64 Chapter 5

Chapter 5 Linkage, Recombination, and the Mapping of

Genes on Chromosomes
Synopsis:
This chapter is devoted to a very important topic: linkage of genes. The concept of linkage is the
basis for genetic mapping. Genes on the same chromosome are physically connected or linked. Gene
pairs that are close together on the same chromosome are genetically linked because the alleles on the
same homolog are transmitted together (parental types into gametes more often than not during
meiosis (Figures 5.2 and 5.3.
Gene pairs that assort independently e!hibit a recombination fre"uency of 5#$ because the
number of parental types % the number of recombinants (Table 5.2. Genes may assort independently
either because they are on different chromosomes or because they are far apart on the same
chromosome. The recombination fre"uencies of pairs of genes indicate ho& often ' genes are
transmitted together. (or linked genes) the fre"uency is less than 5#$. The greater the distance bet&een
linked genes) the higher the recombination fre"uency (rf. *ecombination fre"uencies become more
inaccurate as the distance bet&een genes increases.
The relationship bet&een relative recombination fre"uency and distance is used to create genetic
maps. The greater the density of genes on the map) and the smaller the distances bet&een the genes) the
more accurate the map.
+tatistical analysis can help determine &hether or not ' genes assort independently. The Chi s"uare
test can also be used to determine ho& &ell the outcomes of crosses fit other genetic hypotheses
(Figure 5.5.
Tetrad analysis is done in certain species of yeast in &hich the meiotic products are kept together in
a sac (ascus so the results of a single meiosis are displayed in each tetrad. This array of 4 spores
reveals the relation bet&een genetic recombination and the segregation of chromosomes during the '
meiotic divisions. +olving tetrad analysis problems &ill increase your understanding of chromosome
segregation during meiosis.
,n diploid organisms hetero-ygous for ' alleles of a gene rare mitotic recombination bet&een the
gene and its centromere can produce genetic mosaics in &hich some cells are homo-ygous for one allele
or the other (Figure 5.24 and .roblem 5/40.
Signifcant Elements:
1fter reading the chapter and thinking about the concepts you should be able to:
65 Chapter 5
2etermine if genes are linked or not based on the fre"uency of different types of gametes or
progeny.
2etermine &hether observed results are statistically consistent &ith e!pected results using the chi
s"uare test.
3hen given the genotypes of parents and information on linkage of genes) list the gametes that can
be produced &ith and &ithout recombination.
4eginning &ith 0 genes) map the genes. 2etermine the order of the genes and the distance bet&een
linked genes based on the percentage of recombination that occurred during meiosis.
2etermine if there is crossover interference in a three point cross.
,dentify different types of tetrads 5parental ditype (.2) non/parental ditype (6.2) tetratype (T7
and understand &hat events during meiosis gives rise to these different types of asci.
2etermine linkage bet&een genes given either random spore results or numbers of different types of
asci.
,dentify centromere linked genes and determine distance from gene to centromere in Neurospora
tetrads.
Problem Solving Tips:
This chapter discusses the analysis of linked genes. 8ne &ay to analy-e recombination fre"uency
(rf bet&een linked genes is using ' point crosses) as is done in Tetrad 1nalysis. 1 more accurate map
of linked genes can be derived from analy-ing the data from 0 linked genes (0 point crosses. 4oth of
these types of analysis of linked genes lead to maps) but each type of analysis has its o&n peculiarities.
The minimum re"uirement for detecting recombination is hetero-ygosity for ' genes. The
recombination events that can be detected are the ones that occur bet&een the ' genes) giving
recombinant gametes instead of parental gametes.
,t is easiest to detect the parental vs recombinant gametes if you do a test cross.
,n a test cross of aa
9
bb
9
! aa bb the e!pected phenotypic fre"uencies and classes of progeny are
: a
9
/ b
9
/ : : aa bb : : a
9
/ bb : :aa b
9
/ if the genes are assorting independently. The genes are
genetically linked if you see more parental than recombinant progeny.
*ecombination fre"uency % ; recombinant progeny < total ; progeny % rf ! :## % mu or c=.
2epending on the vagaries of the particular system or problem &e may derive some basic
variations of this formula.
3hen discussing recombination) you must &rite the genotypes in a &ay that represents linkage.
*emember that there is one allele per homolog) so aa becomes a < a. 3hen discussing more than
one gene on a chromosome you must initially assume an order. 3hile solving a problem) al&ays
Chapter 5 66
&rite the genes in the same arbitrary) assumed order. Thus) a
9
b
9
c < a b c
9
is more accurately
&ritten as:

a b c
9

a
9
b
9
c
Genes on the > chromosome can be mapped &ithout a test cross. ?ust use the hemi-ygous male
progeny as in .roblem 5/@.
The Chi +"uare calculation is (o / e
'
<e.
Problem Solving - How to Begin:
THREE ESSENTIAL QUESTIONS (3EQ):
:. Ao& many genes are involved in the crossB
'. (or each gene involved in the cross: &hat are the phenotypes associated &ith the geneB 3hich
phenotype is the dominant one and &hyB 3hich phenotype is the recessive one and &hyB
0. (or each gene involved in the cross: is it >/linked or autosomalB
The 0CD are still useful) as you often have to diagram the cross and assign genotypesE (or a more
thorough list of Hints) revie& Solving Problems - How to Beginin Chapter 4 of this +tudy
Guide.
THREE POINT CROSSES:
,n a three point cross first re&rite the classes of progeny (data assigning genotypes to each trait.
These genotypes are based on your ans&ers to the 3EQ!
The offspring are generated by a hetero-ygous individual. Therefore) all classes (parental) etc. &ill
occur as reciprocal pairs of progeny. These reciprocal pairs &ill be both genetic reciprocals and
numerically e"uivalent.
2esignate the different gametes or offspring as noncrossover (parental) single crossover or double
crossover. The noncrossover classes are those classes of progeny &ho have one of the intact) non/
recombinant homologs from the parent. The noncrossover classes &ill be represented by the
greatest numbers of offspring. The double crossover classes &ill be represented by the smallest
numbers of offspring (Figure 5.10. +ometimes one or both double crossover classes are missing
because they are rare.
6F Chapter 5
4y e!amining the pattern of data seen in a problem) you can often start solving the problem &ith a
basic understanding of the linkage relationships of the genes. +ome of the more common patterns
of data are:
/ 0 linked genes give @ classes of data that occur as 4 reciprocal pairs genetically and numericallyG
/ 0 unlinked genes gives @ classes of data that occur as 4 genetically reciprocal pairs) but all
classes are seen in a ::::::::::::::: ratioG
/ 4 linked genes give :6 classes of progeny that occur in @ reciprocal pairsG
/ 4 unlinked genes give :6 classes of progeny in a ::::::::::::::::::::::::::::::: ratioG
/ 0 linked genes and : gene assorting independently gives :6 classes of data occurring as @
reciprocal pairs genetically and 4 groups of 4 numerically.
4egin the process of mapping the genes by ordering the genes. To figure out &hich gene is in the
middle of a group of three genes) choose one of the double crossover classes. Compare it to the
most similar parental class of progeny &here t&o of the three genes &ill have the same combination
of alleles. The gene that differs is the gene in the middle. +ee problem 5/'4c for further
e!planation.
The last step is to determine the distance bet&een the genes on each end and the gene in the middle.
Hse the formula rf % ; recombinants bet&een the ' genes < total ; of progeny.
+ee problem 5/'4 for an e!ample of using the data to make a map.
+ee problem 5/'I for an e!ample of ho& to generate the data &hen you start &ith the map.
+ee problem 5/'F for some hints on ho& to solve more complicated arrangements of genes.
TETRAD ANALYSIS:
+ome of the things that can be done here &hen analy-ing recombination fre"uency (rf are based on
the biology of the organisms. Thus you must understand some of the basic biology of Neurospora
and yeast (Figure 5.14. There is no three point cross analysis in tetrads. ,nstead you map t&o
genes at a time. Study Figure 5.15 (two genes on different chromosomes) and Figure 5.17 (two
linked genes) to understand the derivation of the Three Easy Rules for Tetrad Analysis.
Rule #1 - ,f the number of .2 tetrads is about e"ual to the number of 6.2 tetrads then the genes
are unlinked. ,f the ; .2 tetrads JJJ ; 6.2 tetrads) the genes are linked.
,ndependent assortment dictates that these t&o classes of asci &ill be about e"ual &hen genes are
unlinked) see Figure 5.15.
Rule #2 - 2istance bet&een linked genes is determined by calculating recombination fre"uency
using the e"uation: rf % (6.2 9 :<'T< total ; tetrads :##.
Chapter 5 6@
Rule #3 -Crossovers bet&een a gene and the centromere mean that the t&o alleles are separated
at the second meiotic division (second division segregation instead of during the first meiotic
division. Centromere distance can be measured in yeasts &ith ordered asci) such as Neurospora
and Ascobolus.
These rules are based on the effects of meiosis on t&o unlinked genes (Figure 5.15 versus the
effects on t&o linked genes (Figure 5.17. (urther intricacies of single and double crossovers are
discussed in problem 5/0@.
Solutions to Problems:
Vocabulary
5-1. a. 8G b. 4G c. 1G d. 11G e. 2G f. 5G g. 6G h. 3G i. 10G K. 12G k. 9G l. 7.
Section 5.1 Gene Linkage and recombination
5-2.
a. 2iagram the cross.
scabrous L (scsc j
+
j
+
! Kavelin M (sc
+
sc
+
jj N (
:
3T M (scsc
+
j
+
j ! scabrous Kavelin L
(scsc jj N :<4 scabrous (. : :<4 Kavelin (. : :<4 3T (* : :<4 scabrous Kavelin (*.
This (
:
female &ill make four different types of gametes in e"ual fre"uency O :<4 sc
9
j : :<4 sc j
9
:
:<4 sc
9
j
9
: :<4 sc j. 4ecause this is a test cross the male parent &ill al&ays give the recessive
alleles of the genes. Thus the phenotypes of the progeny &ill be determined by the gamete they
receive from the hetero-ygous (
:
female.
8f course these genes may be linked. ,n this case the cross &ould be diagrammed as follo&s:
scabrous L (sc j
+
/ sc j
+
! Kavelin M (sc
+
j < sc
+
j N (
:
3T M (sc j
+
< sc
+
j ! scabrous
Kavelin L (sc j < sc j N scabrous (sc j
9
(. : Kavelin (s
9
j (. : 3T (sc
9
j
9
(* : scabrous
Kavelin (sc j (*. 1gain) this (
:
female &ill make 4 different types of gametes. There will be the
two arental !" t#$es and two %eco&binant !%" t#$es - s
'
j !" ( sc j
'
!" (

sc
'
j
'
!%" ( sc j
!%". The t&o .arental types must be e"ual fre"uency and the t&o *ecombinant types must be e"ual
to each other. The relative proportion of .arental to *ecombinant &ill depend on the genetic
distance (recombination fre"uency % rf bet&een the genes on the chromosome. The recombination
6I Chapter 5
fre"uency could be anything from # mu (the genes are very closely linked to 5# mu (the genes are
far apart on the same chromosome. ,n the latter case . % * and the proportions of the four types of
gametes &ill also be : : : : : : :.
b. ,n these results the parental (FF scabrous 9 F4 Kavelin are e"ual fre"uency to the recombinants (F6
&ild type 9 F0 scabrous Kavelin. Thus the genes assort inde$endentl# !are 50 &u a$art".
c. (
:
3T M (scsc
+
j
+
j ! &ild type L (sc
+
sc
+
j
+
j
+
N all &ild type progeny. The (
:
female &ill
still make four types of gametes in e"ual fre"uency. Ao&ever the male parent in this cross can only
contribute sc
+
j
+
gametes so all the $rogen# will be $henot#$icall# wild t#$e. Thus #ou could
not deter&ine the )re*uenc# o) $arental and reco&binant ga&etes )ro& the F
1
)e&ale.
d. 2iagram the cross.
Kavelin M (sc
+
sc
+
jj ! scabrous Kavelin L (scsc jj N (
:
Kavelin M (scsc
+
jj. This (
:
female
&ill make sc
+
j and sc j parental gametes. +er reco&binant ga&etes will be the sa&e
genot#$es as her $arental ga&etes thus &a,ing it i&$ossible to detect crossing o-er. ,n order
to detect crossing over (or independent assortment the parent must be hetero-ygous for t&o genes
or markers. The cross overs detected &ill occur bet&een the t&o genes.
5-3.
a. 2iagram this cross.
4
:
4
'
2
:
2
4
L ! 4
0
4
0
2
'
2
0
M N 4
:
4
0
2
:
2
0
L (?ohn. Thus ?ohn received a 4
:
2
:
gamete
from his father and a 4
0
2
0
gamete from his mother. ?ohn &ill produce $arental ga&etes o) these
t#$es - .
1
/
1
and .
3
/
3
.
b. The reco&binant ga&etes $roduced b# 0ohn will be .
1
/
3
and .
3
/
1
.
c. 1ll :## sperm have the parental genotypes. There are no recombinant sperm. Therefore the . and
/ /12 loci are lin,ed. 4ased on this data they are # mu apart.
Section 5.2 Chi-Square Test
5-4. The null hypothesis is that there is independent assortment of ' genes yielding a dihybrid
phenotypic ratio of I<:6 R/Y/ : 0<:6 R/ yy : 0<:6 rr Y/ : :<:6 rr yy. Hse the Chi s"uare (P
'
test to
compare =endelQs observed data &ith the I:0:0:: ratio e!pected for ' genes that assort independently.
Genotypes 8bserved ; C!pected ;
P
'
s"uare e"uation +um of P
'
R/Y/ 0:5 I<:6 (556 % 0:0
(0:5 0:0
'
<0:0
#.#:
R/ yy :#@ 0<:6 (556 % :#4
(:#@ :#4
'
<:#4
#.:5
Chapter 5 F#
rr Y/ :#: 0<:6 (556 % :#4
(:#: :#4
'
<:#4
#.#I
rr yy 0' :<:6 (556 % 05
(0' 05
'
<05
#.'6
#.5:
The number of classes is 4) so the degrees of freedom is 4: or 0. Hsing Table 5-1 in the te!t) the
probability of having obtained this level of deviation by chance alone is bet&een #.I and #.II (I# /
II$. Thus &e can 68T reKect the null hypothesis. ,n other &ords) the data are consistent with
inde$endent assort&ent and we there)ore conclude that 3endel4s data could indeed result )ro&
the inde$endent assort&ent o) the 2 genes.
5-5.
a. 2iagram the cross.
orange (O- bb ! black (oo B- N (
:
bro&n (O/ B/ N :## bro&n (O/ B/ : '5 orange (O- bb
: '' black (oo B/ : :0 albino (oo bb
4ecause the (
:
snakes &ere all bro&n) &e kno& that the orange snake could not have contributed
an o allele) or there &ould have been some black snakes. The orange snake must be OO bb. The
black snake could not have contributed a b allele or there &ould have been some orange snakes) so
the black parent must be oo BB. Therefore the F
1
sna,es &ust be Oo Bb.
b. The (
:
snakes are hetero-ygous for both genes (Oo Bb. ,f the t&o loci assort independently) &e
e!pect the (
'
snakes to sho& a I bro&n : 0 orange : 0 black : : albino ratio. The total number of
(
'
progeny is :6#. 5e e6$ect 90 !160 6 9716" o) these $rogen# to be brown8 30 !160 6 3716" to
be orange8 30 to be blac, and 10 !160 6 1716" to be albino.
c.
Genotypes C!pected ; 8bserved ;
P
'
s"uare e"uation +um of P
'
O- B- I# :##
(:##I#
'
<I#
:.::
O- bb 0# '5
('50#
'
<0#
#.@0
oo B/ 0# ''
(''0#
'
<0#
'.:0
oo bb :# :0
(:0:#
'
<:#
#.I
4.IF
There are three degrees of freedom (4 classes : and the p value is bet&een #.5 and #.:. The
obser-ed -alues do not di))er signi)icantl# )ro& the e6$ected.
d. There is a :#$ / 5#$ probability that these results &ould have been obtained by chance if the null
hypothesis &ere trueG this is simply another &ay of &riting the meaning of the p value.
5-6.
F: Chapter 5
a. The cross is:
normal (DD ! dancer (dd N (
:
normal (Dd (
'
0<4 D/ (normal : :<4 dd (dancer
174 o) the F
2
&ice will be dancers i) the trait is deter&ined b# a single gene with co&$lete
do&inance.
b. 2iagram the cross:
normal (AA BB ! dancer (aa bb N (
:
normal (Aa Bb (
'
:5<:6 normal (A/ B/ 9 A/ bb 9 aa
B/ : :<:6 dancer (aa bb
1716 o) the &ice would be e6$ected to be dancers gi-en the second h#$othesis that dancing
&ice &ust be ho&o9#gous )or the recessi-e alleles o) two genes.
c. Calculate the chi s"uare values for each situation. 6ull hypothesis ;:: 2ancing is caused by the
homo-ygous recessive allele of one gene) so :<4 of the (
'
mice should be dancers. Calculating the
e!pected numbers) :<4 5# mice or :0 should have been dancers) 0F should have been
nondancers.
Genotypes 8bserved ; C!pected ;
P
'
s"uare e"uation +um of P
'
nondancers 4' (0<4 ! 5# % 0F
(4'0F
'
<0F
#.6@
dancers @ (:<4 ! 5# % :0
(@:0
'
<:0
:.I'
'.6#
3ith one degree of freedom the p value is bet&een #.5 and #.: and &e cannot reKect the null
hypothesis. The hypothesis that dancing is caused by the homo-ygous recessive allele of one gene
is therefore a good fit &ith the data. 6ull hypothesis ;': 2ancing is caused by being homo-ygous
for the recessive alleles of t&o genes (aa bb) so :<:6 of the (
'
mice should be dancers.
Genotypes 8bserved ; C!pected ;
P
'
s"uare e"uation +um of P
'
nondancers 4' 4F
(4'4F
'
<4F
#.50
dancers @ 0
(@0
'
<0
@.00
@.@6
3ith one degree of freedom) the p value is R #.##5) so the null hypothesis that t&o genes control
the dancer phenotype is not a good fitG in fact) the hypothesis can be reKected by the criteria
employed by most geneticists. The one gene h#$othesis is a better )it with the data.
5-7. This "uestion asks you to &eigh the advantages and disadvantages of using Chi s"uare analysis to
test for linkage bet&een t&o genes using t&o different assumptions.
a. ,n assumption ;:) as seen in (igure 5.5) the e!pectation of independent assortment is that the
fre"uency of parentals is the same as the fre"uency of recombinants. ,n assumption ;') the
e!pectation of independent assortment is the parental and recombinant progeny should be present
Chapter 5 F'
in a ratio of :::::::. 1otice that the null h#$othesis is the sa&e in both cases( that the genes are
assorting inde$endentl#.
b. 1ssumption ;:) 5# progeny:
Genotypes 8bserved ; C!pected ;
P
'
s"uare e"uation +um of P
'
parental 0: '5
(0: / '5
'
<'5
:.44
recombinant :I '5
(I / '5
'
<'5
:.44
'.@@
: dof (degree of freedom) #.#5 R p R #.: and the null hypothesis cannot be reKected / the data is
compatible &ith the hypothesis that the genes are assorting independently.
1ssumption ;') 5# progeny:
Genotypes 8bserved ; C!pected ;
P
'
s"uare e"uation +um of P
'
AB :F :'.5 (:F / :'.5'<:'.5 :.6'
ab :4 :'.5 (:4 / :'.5'<:'.5 #.:@
Ab @ :'.5 (@ / :'.5<:'.5 :.6'
aB :: :'.5 (:: / :'.5'<:'.5 #.:@
0.6
0 dof) #.:# R p R #.5 and the null hypothesis cannot be reKected / the data is compatible &ith the
hypothesis that the genes are assorting independently.
1ssumption ;:) :## progeny:
Genotypes 8bserved ; C!pected ;
P
'
s"uare e"uation +um of P
'
parental 6' 5# (6' / 5#'<5# '.@@
recombinant 0@ 5# (0@ / 5#'<5# '.@@
5.F6
: dof) #.#: R p R #.#5 and the null hypothesis is reKected / the genes are not assorting
independently) so they must be linked.
1ssumption ;') :## progeny:
Genotypes 8bserved ; C!pected ;
P
'
s"uare e"uation +um of P
'
14 04 '5 (04 / '5'<'5 0.'4
ab '@ '5 ('@ / '5'<'5 #.06
1b :6 '5 (:6 / '5'<'5 0.'4
a4 '' '5 ('' / '5'<'5 #.06
F.'
0 dof) #.#5 R p R #.: and the null hypothesis cannot be reKected / the data is compatible &ith the
hypothesis that the genes are assorting independently.
,n the first e!periment &ith only 5# progeny) p R #.#5 using both the ' class and 4 class
assumptions) so neither assumption supports the idea that the genes are linked (although the test
&ith ' classes is closer to significance. 3hen more progeny are scored) the null hypothesis (that
F0 Chapter 5
the genes are assorting independently is reKected &hen you look at the data as ' classes but not as
4 classes. This suggests that using 2 classes is a &ore sensiti-e test )or lin,age than using 4
classes.
c. There is actually a subtle difference in the null hypotheses: in the ' class situation the null
hypothesis is linkageG in the 4 class situation it is :::::::) &hich not only means linkage but also
e"ual viability of the 4 classes. Sou could imagine a situation in &hich certain classes are sub/
viable) for e!ample any class &ith the a allele. ,n such a case) you might see linkage &ith the '
class test) but you &ould miss the even more important point that one allele causes reduced
viability. This abilit# to see the relati-e -iabilit# o) the alleles is an ad-antage to the 4 class
&ethod.
Section 5.3 Recombination Results from Crossing-Over During Meiosis
5-8. The parents are from true breeding stocks. 2iagram the cross:
raspberry eye color L ! sable body color M N (
:
&ild type eye and body color M ! sable body
color L (if no mention is made of the eye color) then it is assumed to be &ild type N (
'
':6 &ild
type M : ''0 sable M : :I: sable L : :@@ raspberry L : '0 &ild type L : 'F raspberry sable L
0CD ;: / the phenotypes seem to be controlled by ' genes) one for eye color and the other for body
color. 0CD ;' / the (
:
female progeny sho& that the &ild type allele is dominant for body color (s
9
J
s and the &ild type allele is also dominant for eye color (r
9
J r. Duestion ;0 / sable body color is
seen in the (
:
males but not the (
:
females) so the s gene is >/linked. ,n the (
'
generation the
raspberry eye color is seen in the males but not in the females) so r is also an >/linked gene. 3e can
no& assign genotypes to the true/breeding parents in this cross:
r s
'
7 : !ras$berr# ; " 6 r
'
s 7 r
'
s < = F
1
r s
'
7 r
'
s < !wild t#$e" 6 r
'
s 7 : !sable ;" =
>the hetero9#gous F
1
)e&ale can &a,e the )ollowing ga&etes( !$arentals" r s
'
8 r
'
s and
!reco&binants" r s8 r
'
s
'
? the F
1
&ale can &a,e : and r
'
s ga&etes@ = F
2
will be r s
'
7 r
'
s
!wild t#$e )e&ales"8 r
'
s 7 r
'
s !sable )e&ales"8 r s 7 r
'
s !sable )e&ales"8 r
'
s
'
7 r
'
s !wild t#$e
)e&ales"8 r
'
s 7 : !sable &ales"8 r s
'
7 : !ras$berr# &ales"8 r s 7 : !ras$berr# sable &ales"8 r
'
s
'
7
: !wild t#$e &ales"
The (
:
female is hetero-ygous for both genes and &ill therefore make parental and recombinant
gametes. The (
:
male is not a true test cross parent) because he does not carry the recessive alleles for
both of the >/linked genes. Ao&ever) this sort of cross can be used for mapping) because (
'
sons
Chapter 5 F4
receive only the S chromosome from the (
:
male and are hemi-ygous for the > chromosome from the
(
:
female. Thus the phenotypes in the (
'
males represent the array of parental and recombinant
gametes generated by the (
:
female as &ell as the fre"uencies of these gametes. Hsing the (
'
males)
the r) between sable and ras$berr# A 23 !wild t#$e &ales" ' 27 !ras$berr# sable &ales" 7 429
!total &ales" A 0.117 6 100 A 11.7 c3.
5-9.
a. The parental females are hetero-ygous for the >/linked dominant Greasy fur (Gs and 4roadhead
(Bhd genes. They are crossed to homo-ygous recessive males. The male progeny of this cross &ill
sho& four phenotypes) &hich &ill fall into t&o genetic reciprocal pairs. 8ne pair &ill be Gs 4hd
and &ild type (Gs Bhd and Gs
9
Bhd
9
&hile the other pair &ill be Gs and 4hd (Gs Bhd
9
and Gs
9

Bhd. ,f the genes are far apart on the > chromosome then they &ill assort independently and all
four classes &ill sho& e"ual fre"uency. ,f the genes are more closely linked then there &ill be a
more fre"uent reciprocal pair (the parental pair and a less fre"uent pair (the recombinant pair.
There are 5: Gs Bhd
9
and 4@ Gs
9
Bhd male progeny. Thus) this is the parental pair and the
genotype of the female is Gs Bhd
9
< Gs
9
Bhd. The cross can be diagra&&ed(
Gs Bhd
'
7 Gs
'
Bhd < 6 Gs
'
Bhd
'
7 : ; = 51 Gs Bhd
'
; ( 48 Gs
'
Bhd ; ( 2 Gs Bhd
; ( 1 Gs
'
Bhd
'
;.
The distance between these two genes( r) A 2 ' 1 7 100 A 0.03 A 3&u.
b. The daughters in this cross must inherit the Gs
9
Bhd
9
> chromosome from their fathers. This
chromosome carries the recessive alleles of both genes) so this is a true test cross. Thus the
genot#$es8 $henot#$es and )re*uencies o) the )e&ale $rogen# would be the sa&e as their
brothers.
5-10.
a. 2iagram the cross:
CC DD ! cc dd N (
:
C D / c d ! cc dd N I#0 Cc Dd) @IF cc dd) I@ Cc dd) :#' cc Dd.
4ecause the gamete from the homo-ygous recessive parent is al&ays c d) &e can ignore one c and
one d allele (the c d homolog in each class of the (
'
progeny. The remaining homolog in each class
of (
'
is the one contributed by the doubly hetero-ygous (
:
) the parent of interest &hen considering
recombination. ,n the (
'
the t&o classes of individuals &ith the greatest numbers represent
parental gametes (C D or c d from the hetero-ygous (
:
parent combining &ith the c d gamete from
F5 Chapter 5
the homo-ygous recessive parent. The other t&o types of progeny result from a recombinant
gametes (C d or c D combining &ith the c d gamete from the homo-ygous recessive parent. The
number of recombinants divided by the total number of offspring ! :## gives the map distance: (I@
9 :#'<(I#0 9 @IF9 I@ 9 :#' % '##<'### % #.#: ! :## % :#$ rf or 10 &a$ units !&u" or 10
c3.
b. CC dd ! cc DD N (
:
C d / c D ! c d < c d N as determined in part a) c and d are :# c=
apart. Thus the gametes produced by the hetero-ygous (
:
&ill be 45$ C d) 45$ c D) 5$ C D) 5$
c d. 1fter fertili-ation &ith c d gametes) there &ould be 45B Cc dd8 45B cc Dd8 5B Cc Dd8 5B
cc dd. 4ecause this is a test cross) the gametes from the doubly hetero-ygous (: parent determine
the phenotypes of the progeny.
5-11. To determine the probability that a child &ill have a particular genotype) look at the gametes that
can be produced by the parents. ,n this e!ample) A and B are '# mu apart) so in a doubly hetero-ygous
individual '#$ of the gametes &ill be recombinant and the remaining @#$ &ill be parental. The aa bb
homo-ygous man can only produce a b gametes. The doubly hetero-ygous &oman) &ith a genotype of
A B / a b) can produce 4#$ A B) 4#$ a b) :#$ A b and :#$ a B gametes. (Total of recombinant
classes % '#$. The $robabilit# that a child recei-es the A b ga&ete )ro& the )e&ale !and is
there)ore A b 7 a b" A 10B.
5-12.
a. 2esignate the alleles: H % Auntington allele) h % normal alleleG B % brachydactyly) b % normal
fingers. 0ohn4s )ather is bb Hh? his &other is Bb hh. The *oman numerals are missing from the
pedigree diagram belo&.

bb Hh
Bb hh
affectedB
?ohn
Bb Bh
bb hh
b. 3e kno& the ?ohn is Bb because he has brachydactyly. +is co&$lete genot#$e could be Bb Hh
or Bb hh. The probability that ?ohnQs genotype is Hh % :<' (chance that he inherited the H allele
from his father ! :<0 (probability of J5# years of age for onset of symptoms % :<6.
Chapter 5 F6
c. The probability that the child &ill have and e!press brachydactyly % :<' (probability of inheriting
B from ?ohn ! I<:# (probability of e!pressing the phenotype % #.45. The probability that the
child &ill e!press AuntingtonQs disease by age 5# % :<6 (probability that ?ohn is Hh ! :<'
(probability that the child &ill inherit the H allele ! '<0 (probability the child &ill sho& symptoms
of AuntingtonQs by age 5# % #.#56. C) brach#dact#l# and +untington4s assort inde$endentl#
the $robabilit# that the child will e6$ress both $henot#$es b# age 50 A 0.45 !$robabilit# o)
e6$ressing brach#dact#l#" 6 0.056 !$robabilit# o) e6$ressing +untington4s b# age 50" A 0.025.
d. ,f the t&o loci are linked) the alleles on each of ?ohnQs homologs &ill be either B h / b H or B h / b
h. ,f it is the former (and ?ohn has AuntingtonQs) the B H gamete could only be produced by
recombination. The probability of that specific recombinant gamete % :#$ (b h constitutes the
other :#$ of the recombinant gametes. 1s sho&n in part a) the probability that ?ohnQs genotype is
B h / b H % :<6. The $robabilit# that 0ohn4s child will inherit both the +untington and
brach#dact#l# alleles A 176 !$robabilit# that 0ohn is B h / b H" 6 1710 !$robabilit# o) child
inheriting B H reco&binant ga&ete )ro& 0ohn" 6 9710 !$robabilit# o) e6$ressing
brach#dact#l#" 6 273 !$robabilit# o) e6$ressing +untington4s b# age 50" A 0.01.
5-13. 2esignate the alleles of the genes: A % normal pigmentation and a % albino alleleG Hb
A
% normal
globin and Hb
S
% sickle allele.
a. 4ecause both traits are rare in the population) &e assume that the parents are homo-ygous for the
&ild type allele of the gene dictating their normal traits (that is) they are not carriers. 2iagram the
cross: a Hb
A
/ a Hb
A
(father ! A Hb
S
/ A Hb
S
(mother N a Hb
A
/ A Hb
S
(son. Given
that the genes are separated by : map unit) parental gametes % II$ and recombinant gametes %
:$ of the gametes. The son4s ga&etes will consist o)( 49.5B a Hb
A
, 49.5B A Hb
S
, 0.5B a
Hb
S
and 0.5B A Hb
A
.
b. ,n this family) the cross is A Hb
A
/ A Hb
A
(father ! a Hb
S
< a Hb
S
(mother N a Hb
S
/ A
Hb
A
(daughter. The daughter4s ga&etes will be( 49.5B a Hb
S
,

49.5B A Hb
A
8 0.5B a
Hb
A
and 0.5B A Hb
S
.
c. The cross is: a Hb
A
/ A Hb
S
(son ! a Hb
S
/ A Hb
A
(daughter. The $robabilit# o) an a
Hb
S
7 a Hb
S
child !sic,le cell and ane&ic" A 0.005 !$robabilit# o) a Hb
S
)ro& son" 6 0.495
!$robabilit# o) a Hb
S
)ro& daughter" A 0.0025.
5-14. 2iagram the cross:
FF Chapter 5
blue smooth ! yello& &rinkled N :44F blue smooth) :6I blue &rinkled) :@6 yello& smooth) :5:#
yello& &rinkled.
a. To determine if genes are linked) first predict the results of the cross if the genes are unlinked. ,n
this case) a plant &ith blue) smooth kernels (A- - is crossed to a plant &ith yello&) &rinkled
kernels (aa !!. +ince there are four classes of progeny) the parent &ith blue) smooth kernels must
be hetero-ygous for both genes (Aa !. (rom this cross) we would $redict e*ual nu&bers o) all
)our $henot#$es in the $rogen# i) the genes were unlin,ed. Dince the nu&bers are -er#
s,ewed8 with the s&aller classes re$resenting reco&binant o))s$ring8 the genes are lin,ed. r) A
!169 ' 186" 7 !1447 ' 169 ' 186 ' 1510" A 35573312 A 10.7B A 10.7 c3.
b. The genotype of the blue smooth parent &as Aa !. The arrangement of alleles in the parent is
determined by looking at the phenotypes of the largest classes of progeny (the parental reciprocal
pair. +ince blue) smooth and yello& &rinkled are found in the highest proportion) A must be on
one homolog and a ! on the other % A W / a w.
c. The genotype of the blue) &rinkled progeny is A ! /a !. This genotype can produce A ! or a !
gametes in e"ual proportions. *ecombination can 68T be detected here) as this genotype is only
hetero-ygous for one gene. 6otice that recombination bet&een these homologs yields the same t&o
combinations of alleles (A ! and a ! as the parental) so each type of gamete is e!pected 5#$ of
the time. The yello& smooth progeny plant has a genotype of a / a !. 1gain since recombination
cannot be detected) the fre"uency of each type is 5#$. Thus the cross is A ! / a ! (blue &rinkled
! a / a ! (yello& smooth. Four t#$es o) o))s$ring are e6$ected in e*ual $ro$ortions( 174 A
w / a W !blue s&ooth" ( 174 A w / a w !blue wrin,led" ( 174 a w / a W !#ellow s&ooth" ( 174 a
w / a w !#ellow wrin,led".
5-15. 2iagram the cross: CC bb (bro&n rabbits ! cc BB (albinos N (
:
Cc Bb ! cc bb N 04
black : 66 bro&n : :## albino.
a. ,f the genes are unlinked) the (
:
&ill produce C B" c b" C b and c B gametes in e"ual proportions.
1 mating to animals that produce only c b gametes &ill produce four genotypic classes of
offspring: :<4 Cc Bb (black : :<4 cc Bb (albino : :<4 Cc bb (bro&n : :<4 cc BB (albino. The
ratio &ould be 174 blac, ( 172 albino ( 174 brown.
b. ,f c and b are linked) then the genotype of the (
:
class is C b < c B and you &ould e!pect the
parental type C b and c B gametes to predominateG c b and C B are the recombinant gametes and
are therefore present at lo&er levels. The parental gametes are represented in the (
'
by the Cc bb
(bro&n and cc Bb (albino classes. +ince &e cannot distinguish bet&een the albinos resulting from
fertili-ation of recombinant gametes (c b) and those resulting from parental gametes (c B) &e
have to use the proportion of the C B recombinant class and assume that the other class of
Chapter 5 F@
recombinants (c b is present in e"ual fre"uency. +ince the crossing/over is a reciprocal e!change)
this assumption is reasonable. There &ere 04 black progenyG assuming that 04 of the :## albino
progeny &ere the result of recombinant gametes) the genes are !34 ' 34" reco&binant 7 200 total
$rogen# A 34B r) A 34 c3 a$art.
5-16. 6otice that you are asked for the number of different kinds of phenotypes) not the number of
individuals &ith each of the different phenotypes.
a. 2 (A/ and aaG
b. 3 (AA) Aa and aaG
c. 3 (AA) Aa and aaG
d. 4 (A/ B/) A/ bb) aa B/) aa bbG
e. 4 (A/ B/) A/ bb) aa B/) aa bbG because the genes are linked) the fre"uency of the four classes &ill
be different than that seen in part dG
f. 1ine phenotypes in total. There are three phenotypes possible for each gene. The total number of
combinations of phenotypes is (0
'
% I ((AA) Aa and aa ! (BB) Bb and bb.
g. 6ormally there are four phenotypic classes) as in parts d and e (A-B-) A-bb" aaB- and aabb. ,n
this case) one of the genes is epistatic so t&o of the classes have the same phenotype) gi-ing 3
$henot#$ic classes.
h. T&o genes means four phenotypic classes (A- B-) aa B-" A- bb and aa bb. 4ecause gene function
is duplicated the first three classes are all phenotypically e"uivalent in that they have function) and
only the aa bb class &ill have a different phenotype) being &ithout function. Thus there are only 2
$henot#$ic classes.
i. There is :##$ linkage bet&een the t&o genes. The number of phenotypic classes &ill depend on
the arrangement of alleles in the parents. C) the $arents are A B / a b 6 A B / a b, the $rogen# will
be 374 A- B- ( 174 aa bb and there will be two $henot#$ic classes. C) the $arents are A b / a B 6
A b / a B, the $rogen# will be 174 2- b ( 172 2- .- ( 174 a .- and there will be three $henot#$ic
classes in the o))s$ring.
5-17.
a. AA BB ! aa bb N (
:
A B / a b (A B on one homolog and a b on the other homolog. The (:
progeny &ill produce gametes of the parental types A B and a b# and of the recombinant types A b
and a B. 4ecause the genes are 4# c= apart) the reco&binants will &a,e u$ 40B o) the ga&etes
!20B Ab and 20B aB". The $arental ga&etes &a,e u$ the re&aining 60B o) the ga&etes8
30B A B and 30B a b. +et up a .unnett s"uare to calculate the fre"uency of the 4
FI Chapter 5
phenotypes in the (
'
progeny. ,n the .unnett s"uare the phenotypes are sho&n in parentheses (A/
bb. The F
2
$henot#$ic ratio is( 0.59 A- B- ( 0.16 A- bb ( 0.16 aa B- ( 0.09 aa bb.
0.3 A B 0.3 a b 0.2 A b 0.2 a B
0.3 A B
A B < A B
(#.#I A- B-
A B < a b
(#.#I A- B-
A B < A b
(#.#6 A- B-
A B < a B
(#.#6 A- B-
0.3 a b
a b < A B
(#.#I A- B-
a b < a b
(#.#I aa bb
a b < A b
(#.#6 A- bb
a b < a B
(#.#6 aa B-
0.2 A b
A b < A B
(#.#6 A- B-
A b < a b
(#.#6 A- bb
A b < A b
(#.#4 A- bb
A b < a B
(#.#4 A- B-
0.2 a B
a B < A B
(#.#6 A- B-
a B < a b
(#.#6 aa B-
a B < A b
(#.#4 A- B-
a B < a B
(#.#4 aa B-
b. ,f the original cross &as AA bb ! aa BB) the allele combinations in the (
:
&ould be A b / a B.
.arental gametes in this case are 0#$ A b and 0#$ a B and the recombinant gametes are '#$ A B
and '#$ a b. +et up a .unnett s"uare) as in part a. The F
2
$henot#$ic ratio is( 0.54 A- B- ( 0.21
A- bb ( 0.21 aa B- ( 0.04 aa bb.
5-18. $
%
) $
&
) and $
'
are codominant alleles of the 261 variant marker locus) &hile D and d are alleles
of the disease gene. The marker and the disease locus are linked. 2iagram the cross:
$
%
D < $
&
d (father ! $
'
d < $
'
d (mother N $
&
B < $
'
d.
The fetus must get a $
'
d homolog from the mother. The fetus also received the $
&
allele of the marker.
The father could have given a $
&
d (non/recombinant or a $
&
D (recombinant gamete.
a. ,f the D locus and the $
%
allele of the marker are # mu apart (there is no recombination bet&een
themG they appear to be the same gene) the $robabilit# that the child8 who recei-ed the v
2
allele
o) the &ar,er8 has the D allele A 0.
b. ,f the distance bet&een the disease locus and marker is : mu) :$ of the fatherQs gametes are
recombinant bet&een D and the marker locus. Aalf of the recombinant gametes (#.5$ &ill be $
&

D# the other half &ill be $
%
d. 4ecause &e are only considering cases &here the child has the $
&

marker) the $robabilit# that the child inherited D A 0.05 !$robabilit# o) inheriting v
2
D 7 0.5
!$robabilit# o) inheriting v
2
" A 0.01 A 1B.
c. 5B.
Chapter 5 @#
d. 10B.
e. 50B.
Section 5.4 Mapping: Locating Genes Along a Chromosome
5-19.
a. There are four e"ually fre"uent phenotypic classes in the progeny must include a reciprocal pair of
parentals and a reciprocal pair of recombinants. The parental reciprocal pair could either be &ild
type &ings) &ild type eyes and dumpy &ings) bro&n eyes or &ild type &ings) bro&n eyes and
dumpy &ings) &ild type eyes. The first possibility means the genotype of the hetero-ygous female
&as dp
9
b!
9
< dp b! &hile the second pair means the genotype of the female &as dp b!
9
< dp
9

b!. ,n either case the recombination fre"uency is 5#$ (:F@ 9 :@: < F:6 or :@5 9 :F' < F:6 so the
two genes are assorting inde$endentl#.
b. ,n this cross the hetero-ygous parent is the male and there is no recombination in Drosoph(la
malesE ,f dumpy and bro&n &ere on separate chromosomes then they must assort independently
and there &ould be four classes of progeny as in part a. ,f the two genes are on the sa&e
chro&oso&e then the lack of recombination in the male parent means that only the t&o parental
classes of progeny are seen. 1lso) the genot#$e o) the hetero9#gous &ale &ust ha-e been dp
'

bw
'
7 dp bw.
c. ,f the genes are far enough apart on the same chromosome they &ill assort independently in the
first cross. This is because (: reco&bination occurs at the )our strand stage o) &eiosis) and ('
so &an# crosso-ers occur between genes when the# are )ar a$art on the sa&e chro&oso&e
that the lin,age between alleles o) these genes will be rando&i9ed. ,ndependent assortment does
not occur in the second cross because there is no recombination in Drosoph(la males. ,n
Drosoph(la) therefore) it is a si&$le &atter to decide i) genes are s#ntenic (linked to the same
chromosome. 1 cross bet&een a male hetero-ygous for the t&o genes of interest and a recessive
female &ill clearly distinguish bet&een genes on separate chromosomes and syntenic genes. ,n the
case of genes on separate chromosomes there &ill be four e"ually fre"uent classes of progeny. ,n
the case of genes on the same chromosome (even genes that are very far apart on the same
chromosome there &ill only be t&o classes of progeny O the parental classes.
d. This distance can not be measured in any t&o/point cross. The measured recombination fre"uency
can be no higher than 5#$ &hen looking at data involving a single pair of genes. Targe genetic
distances can be measured accurately only b# su&&ing u$ the -alues obtained )or s&aller
distances se$arating other genes in between those at the ends.
@: Chapter 5
5-20. 2iagram the cross:
&ild type M ! reduced cinnabar L N (
:
M ! (
:
L N 'I' &ild type) I cinnabar) F reduced) I'
reduced cinnabar.
T&o genes are involved in this cross) but the fre"uencies of the phenotypes in the second generation
offspring do not look like fre"uencies e!pected for a cross bet&een double hetero-ygotes for t&o
independently assorting genes (I:0:0::. The genes must be linked. 2esignate the alleles: c)
+
% &ild
type) c) % cinnabarG rd
+
% &ild type) rd % reduced. The cross is:
c)
+
rd
+
< c)
+
rd
+
M ! c) rd / c) rd L N (
:
c)
+
rd
+
/ c) rd.
%eco&bination occurs in Drosophila )e&ales but not in &ales. Thus &ales can onl# $roduce the
Chapter 5 @'
$arental cn
+
rd
+
or cn rd ga&etes. The )e&ales $roduce both the $arental ga&etes and the
reco&binant ga&etes cn
+
rd and cn rd
+
.
)e&ale ga&etes &ale ga&ete
cn
+
rd
+
&ale ga&ete
cn rd
cn
+
rd
+
(parental
c)
+
rd
+
< c)
+
rd
+
(&ild type
c)
+
rd
+
< c) rd
(&ild type
cn rd
(parental
c) rd < c)
+
rd
+
(&ild type
c) rd < c) rd
(cinnabar reduced
cn
+
rd
(recombinant
c)
+
rd < c)
9
rd
+
(&ild type
c)
+
rd < c) rd
(reduced
cn rd
+
(recombinant
c) rd
+
< c)
+
rd
+
(&ild type
c) rd
+
< c) rd
(cinnabar
The reduced flies and the cinnabar flies are recombinant classes. Ao&ever) there should be an e"ual
number of recombinant types that have a &ild/type phenotype because they got a c)
9
rd
9
gamete from
the male parent. ,f &e assume that these recombinants are present in the same proportions) then rf % '
! (F9I<4## % @$ recombination. The genes are se$arated b# 8 c3.
5-21.
The shortest distances are the most accurate. Therefore begin assembling a map using the genes
that are closest together. =1T/TCH' are :6 c= apart and =1T/TA*4 are :6 c= apart. This gives
t&o possible maps: =1T / (:6 c= / TCH'<TA*4 or TCH' / (:6 c= / =1T / (:6 c= / TA*4.
4ecause TA*4 is 05 c= from TCH' the second map must be the correct one. 6ote that the t&o
smaller distances to not sum to the longer distance because these recombination fre"uencies are based
on t&o point crosses. The A,+4 gene is '0 c= from TCH'. This initially leads to t&o possible maps:
A,+4 / ('0 c= / TCH' / =1T / TA*4 or TCH' / ('0 c= / A,+4<=1T / TA*4. The first map is the
most likely because A,+4 is 0F c= from =1T instead of being very close to =1T. +o the order o) the
genes is +CD4 - EFG2 - 32T - T+%4 (or the inverse.
5-22.
a. 1 test cross is the best &ay to find the map distance bet&een t&o genes. 8ne parent must the
hetero-ygous for both genes and the other parent must the homo-ygous recessive. Thus the cross
&ould be .b Hc 6 bb cc. 4ecause these genes are syntenic the hetero-ygous parent may be either
4 C < b c or 4 c < b C.
b. There are t&o possible orders for these genes:
@0 Chapter 5
:4 mu
:' mu

'0 mu
C C
:5 mu :: mu
2 1 4 C
: mu
:5 mu
:: mu

'0 mu
C C
:4 mu :' mu
2 1 4 C
: mu
c. 4ecause the map positions of 1 and 2 are so close) the relati-e order o) 2 and / is not clear.
2nother uncertaint# is the location o) gene F. This gene must be on this chromosome because &e
are told all of these genes are syntenic. Ao&ever the C gene is genetically unlinked to any of the
other genes (1) 4) C and 2.
d. To figure out the actual order of the genes you must do a three $oint cross with either . 2 / or 2
/ H and order the genes by finding the double cross over class) comparing this to the .arental
class and ascertaining the order of the genes. This is described in the QAo& to 4egin / Three .oint
CrossesQ section at the beginning of this chapter (page 6F. 1lso see problem 5/'4c for a further
e!planation of this method of determining the gene order.
The location o) the F gene can be deter&ined b# finding ne& genes that are genetically
linked to the left of C and to the right of 4 in the maps seen in part b. This e6tension o) the
lin,age grou$ &ill eventually allo& the placement of gene C &hen sho&s genetic linkage to one of
these ne& genes.
5-23.
1lthough this problem considers three different genes each cross only considers t&o at a time. Sou
are thus asked to construct a map of the three genes based on 0 t&o point crosses. 6ote the unusual
usage of a comma to separate the genes in the genotypes &ritten for the parents of each cross. This is
meant to sho& that &e donQt kno& if any of the genes are on the same chromosome. ,f the t&o genes in
each cross are assorting independently then the four phenotypic classes in the test cross progeny must
occur in e"ual fre"uencies (see problem 5/:F. This is clearly not the case in any of the three crosses.
Therefore the *b) e and + genes are all linked. The genotypes of the parents in the first cross may be
correctly &ritten as *b
9
e
9
< *b
9
e
9
! *b e < *b e.
Chapter 5 @4
,n the first cross) the *b
9
e
9
and *b e classes are the parentals. This is based both on the kno&n
genotypes of the true breeding parental generation and on the fact that this reciprocal pair is the most
fre"uent. The recombinants are the *b
9
e and the *b e
9
flies) so the rf % :: 9 :5 < '5# % #.:#4 %
:#.4mu. ,n the second cross the recombinant reciprocal pair is +
9
e
9
and + e so the recombination
fre"uency is :: 9 F < 0:' % #.#5@ % 5.@mu. The + *b
9
and +
9
*b classes are the recombinant
reciprocal pair for the third cross. ,n this case the rf % :: 9 :5 < 4'' % #.#6' % 6.'mu. The *b and e
genes in the first cross are the furthest apart) so the + gene must be in bet&een them. Thus the map of
this data is:

5.@ mu 6.' mu
e + *b
:#.4 mu
6ote that the distance calculated bet&een e and *b in cross one (:#.4mu does 68T e"ual the sum
of the t&o shorter distances (:'.#mu. The distance calculated from cross one is less accurate because
it is based on single crossovers bet&een e and mb and does not include any of the double crossovers
that occurred in the e O k and k O mb regions simultaneously. Thus) the best &a$ o) these genes is:


5.@ mu 6.' mu
e + *b
:'.# mu
5-24. ,n fo!gloves &ild type flo&er color is red and the mutant color is &hiteG the mutation peloria
causes the flo&ers at the ape! of the stem to be very largeG normal fo!gloves are very tall) and d&arf
affects the plant height. 3hen you describe the phenotype of an individual you usually only refer to the
non/&ild type traits. The cross is:
&hite flo&ered ! d&arf peloria N (
:
&hite flo&ered ! d&arf peloria N :F' d&arf peloria)
:6' &hite) 56 d&arf peloria &hite) 4@ &ild type) 5: d&arf &hite) 40 peloria) 6 d&arf) 5 peloria
&hite.
@5 Chapter 5
a. 4ecause there is only : phenotype of (
:
plant) the parents must have been homo-ygous for all
three genes. The phenotype of the (
:
hetero-ygote indicates the do&inant alleles( white )lowers 8
tall ste&s8 and nor&al-si9ed )lowers ( 0CD ;'.
b. 2esignate the alleles for the 0 genes: % &hite) ! % redG , % normal/si-ed flo&ers) p % peloriaG -
% tall) . % d&arf. The cross is: WW PP !white )lowered" 6 ww dd pp !dwar) $eloria".
c. 6ote that all 0 of these genes are genetically linked. There are only ' classes of parental progeny as
defined both phenotypically and numerically. ,n order to dra& a map of these genes) organi-e the
test cross data) figure out &hich of the 0 genes is in the middle and calculate the recombination
fre"uencies in regions : and '. 4y definition) the parentals are the class &ith the same phenotype as
the original parents of the cross) and the 2C8 class is the least fre"uent reciprocal pair of progeny.
1t this point) arbitrarily one of the remaining ' reciprocal pairs of progeny is +C8 : and the last
remaining pair is +C8 '.
Classes of
gametes
Genotype 6umbers
.arental
(.
, -
! p .
:6'
:F'
+C8 :
p .
! , -
56
4@
+C8 '
, .
! p -
5:
40
2C8
! , .
p -
6
5
Compare the 2C8 class &ith the parental class. *emember that a 2C8 comes from a meiosis
&ith a simultaneous crossover in regions : and '. 1s a result) the allele of the gene in the middle
s&itches &ith respect to the alleles of the genes on the ends. ,n this data set) take one of the 2C8
classes (for e!ample p - and compare it to the most similar parental gamete ( , -. T&o
alleles out of three are in commonG the one that differs (p in this case is the gene in the middle.
Thus) the order is , - (or - , .
8nce you kno& the order of the 0 genes) you must calculate the ' shortest distances / from the
end to the center ( to , and from the center to the other end (, to -. The total number of
progeny in this test cross % 540. rf -, % (56 9 4@ 9 6 9 5<540 % ::5<540 % ':.' c=G rf ,-- %
(5: 9 40 9 6 9 5<540 % :I.0 c=.
Chapter 5 @6
The map is:

':.' mu :I.0 mu
, -
d. ,nterference (, % : / coefficient of coincidence (coc
coc % fre"uency of observed 2C8 < fre"uency of e!pected 2C8
1s discussed in problem 5/'5) the e!pected percentage of double crossovers is the product of the
fre"uency of recombination in each interval: (#.:I0 ! (#.':' % #.#4#I. The observed 2C8
fre"uency % ::<540 % #.#'#0G coc A 0.020370.0409 A 0.496? C A 1 - 0.496 A 0.504.
5-25.
a. +ee problem 5/'I for a detailed e!planation of the methodology. 2iagram the cross:
a
+
b
+
c
+
< a b c M ! a b c < a b c L N BB. *ecombination occurs in Drosoph(la females) so
the female parent &ill make the follo&ing classes of gametes. 4ecause this is a test cross) these
gametes &ill determine the phenotypes in the progeny.
Classes of
gametes
Genotype
(re"uency of
reciprocal pair
6umbers
(re"uency
of each
class
; of progeny
fre" ! :)###
arental
!"
a
+
b
+
c
+
a b c
: / all else
: / (#.:@ 9 #.#@ 9
#.#' % #.F'
#.06
#.06
360
360
DHI 1
a
+
b c
a b
+
c
+
rf in region : %
+C8 : 9 2C8
+C8 : % #.' /
#.#' % #.:@
#.#I
#.#I
90
90
DHI 2
a
+
b
+
c
a b c
+
rf in region ' %
+C8 ' 9 2C8
+C8 ' % #.: /
#.#' % #.#@
#.#4
#.#4
40
40
/HI
a
+
b c
+
a b
+
c
(rf in region :
! (rf in region '
(#.' ! (#.: %
#.#'
#.#:
#.#:
10
10
b. 2iagram the cross: a
+
b
+
c
+
< a b c L ! a b c < a b c M N BB. Aere) the hetero-ygous parent is
the male. *ecombination 28C+ 68T 8CCH* in male Drosoph(la. Thus) the hetero-ygous parent
&ill only give ' types of gametes) the parental types. ,f you score :)### progeny of this cross) you
&ill find 500 a
+
b
+
c
+
and 500 a b c $rogen#.
@F Chapter 5
5-26. 2iagram the cross:
pink petals) black anthers) long stems ! pink petals) black anthers) long stems N
a. The cross is pink ! pink N (F@ 9 6 9 44 9 :5 red : (0I 9 :0 9 '#4 9 6@ pink : (' 9 ' 9 ::F 9
0I &hite % :40 red : 0'4 pink : :6# &hite. The appearance of t&o ne& phenotypes (red and &hite
suggest that flo&er color sho&s incomplete dominance. This is confirmed by the ::':: monohybrid
ratio seen in the self/cross progeny. The $in, )lowered $lants are Pp8 red are PP and white are
pp.
b. The e!pected ratio of red: pink : &hite &ould be ::'::. Calculating for the 65# plants) this e"uals
162.5 red8 325 $in,8 and 162.5 white.
c. The monohybrid ratio of the black and &ith tan anthers %. (F@9'690I9:0959' tan : (44 9 :5 9
'#4 9 6@ 9 ::F 9 0I black % :60 tan : 4@F black % J 1 tan ( 3 blac,. There)ore blac, !." is
do&inant to tan !b". The monohybrid ratio for the stem length % 4@F long stems : :60 short stems.
% J 3 long (1 short8 so long !E" is do&inant to short !s".
d. 2esignate the alleles: , % red) ,p % pink) p % &hiteG B %black) b %tan) / %long) l %short. 4ecause
all 0 monohybrid phenotypic ratios are characteristic of hetero-ygous crosses) the genot#$e o) the
original $lant is Pp Bb !l.
e. ,f the stem length and anther color genes assort independently) the I:0:0:: phenotypic ratio should
be seen in the progeny. Totaling all the progeny in each of the classes: 065 long black : :'' short
black : :'' long tan : 4: short tan. The observed dihybrid ratio is close to a I:0:0:: ratio) so the
genes )or anther color !." and ste& length !E" are unlin,ed.
The e!pected monohybrid ratio for flo&er color is : red : ' pink :: &hite) &hile that for stem
length is 0 long :: short. ,f the t&o genes are unlinked) the e!pected dihybrid ratio can be
calculated using the product rule to give 0<@ long pink : 0<:6 long red : 0<:6 long &hite : :<@ short
pink : :<:6 short red : :<:6 short &hite) or a 6 T/ .p :0 T/ .. :0 T/ pp :' ll .p :: ll .. :: ll pp
ratio. The observed numbers are: '40 long pink : :'' long red : :'' long &hite : @: short pink : 4:
short red : 4: short &hite. This observed ratio is close to the predicted ratio) so the genes )or $etal
color !" and ste& length !E" are unlin,ed.
The same analysis is done for flo&er color and anther color. The e!pected dihybrid ratio here is
also 6:0:0:':'::. The observed numbers are: 'F' black pink : 5I black red : :56 black &hite : 5'
tan pink : :#4 tan red : F tan &hite. 4ecause these numbers do not fit a 6:0:0:':::: ratio) &e can
conclude that )lower color !" and anther color !." are lin,ed genes.
f. Ct is clear that the original sna$dragon was hetero9#gous )or Pp and Bb. +owe-er the
genot#$e o) this hetero9#gous $lant could ha-e been either P B 7 p b or P b 7 p B. C) it is the
)or&er and the genes are closel# lin,ed8 then the pp bb $henot#$e will be -er# )re*uent
!al&ost 174 o) the $rogen# because it is non-reco&binant". Cnstead the pp bb class is -er#
Chapter 5 @@
in)re*uent8 accounting )or onl# about 1B !77650" o) the $rogen#. Thus8 the $arental genot#$e
&ust ha-e been P b 7 p B. Cn this case8 the in)re*uent pp bb class recei-ed a p b reco&binant
ga&ete )ro& both $arents !see problem 5/0# parts a U b ". The )re*uenc# o) the pp bb genot#$e
A !$robabilit# o) the p b reco&binant ga&ete"
2
. The reco&bination )re*uenc# !r)" between the
gene and the . gene A )re*uenc# o) P B + p b ga&etes A 2!K!Lpp bb7L total $rogen#"" A
2!K!77650"" A J20 &a$ units.
5-27.
a. &ild type M ! scute echinus crossveinless black L N :6 classes of dataE 1mong the :6 classes
there are &ild type and sc) ec) cv and bl. This tells you that the parental female &as hetero-ygous
for all 4 traits. The fact the parental female is &ild type also tells you that the &ild/type alleles of
all 4 genes are dominant. *emember that if you do a test cross &ith a female that is hetero-ygous
for 0 linked genes) the data sho&s a very specific pattern. 4ecause each type of meiosis (no
recombination) 2C8) etc. gives a pair of gametes) you &ill see @ classes of data that &ill occur in
4 pairs) both genetically and numerically. Thus) if you begin a cross &ith a female that is
hetero-ygous for 4 linked genes) you should see :6 classes of progeny in a pattern of @ genetic and
numeric pairs. 1lthough &e have :6 classes of data) they do 68T occur in numeric pairs / instead
&e see numeric groups of 4. ,f one (or more of the genes instead assorts independently of the
others) then in a test cross you must see numeric groups of 4. (or e!ample) the most fre"uent
classes &ill be parental) and there &ill be a ::::::: ratio of the 4 parental types.
3hich gene is assorting independently relative to the other 0 genesB To ans&er this "uestion)
list the genotypes of the gametes that came from the hetero-ygous parent in the largest group of 4.
This group should include the parental classes for the 0 linked genesG there are 4 genotypes here to
account for the independent assortment of the unlinked gene. Then choose one of the 4 genes) and
remove the allele of that gene from all 4 groups. 3hen you do this &ith the gene that is assorting
independently of the rest) you &ill find there are only ' reciprocal classes of data left) &hich are the
parental classes for the linked genes. ,f you choose one of the linked genes to remove) you &ill still
have 4 different phenotypic classes left. Try removing the b gene first. Sou see that &hen the b
allele is removed there are only ' classes left) s e c and + + +G &hen this analysis is repeated
removing the allele of the s gene there are still 4 different phenotypes left.
@I Chapter 5
Genotype 6umbers remove b remove s
b s e c 650 s e c b e c
+ s e c 6F# s e c + e c
+ + + + 6F5 + + + + + +
b + + + 655 + + + b + +
The b gene is therefore assorting independently of the other 0 genes. 3hen the b gene is removed
from all :6 classes of data) you can see that the data reduces to @ classes that form 4 genetic and
numeric reciprocal pairs) Kust as in any three/point cross (see ans&er to part b belo&. Thus) the
genotype of the parental female is:

c
'

b
'

s
'
"
+

b s c "
b. 3rite the classes out as reciprocal pairs.
Classes of gametes Genotype 6umbers
.arental (.
+ + +
s e c
:0'0
:00#
+C8 :
s + +
+ e c
:44
:4F
+C8 '
s 0e +
+ + c
:F:
:6I
2C8
s + c
+ e +
'
'
Compare the 2C8 s + c to the parental s e cG this sho&s that e is in the middle. Calculate rf s / e %
(:44 9 :4F 9 ' 9 '<0'@@ % I.# c=G rf e / c % (:F: 9 :6I 9 ' 9 '<0'@@ % :#.5 c=.

e
I mu :#.5 mu
s c
c. ,nterference % : / coefficient of coincidence
coc % observed 2C8 fre"uency < e!pected 2C8 fre"uency % (4<0'@@ < (#.#I ! #.:#5 % #.##: <
#.##I % #.::
C A : #.:: % 0.89? #es) there is interference.
Chapter 5 I#
5-28.
(irst re/&rite the data as genotypes grouping the genetic reciprocal pairs.
The th h st and &ild type classes are
defined as parental because they are the
most fre"uent reciprocal pair.
a. Cach class of the parental reciprocal
pair corresponds to one homolog of the
hetero-ygous Drosoph(la female that &as test crossed to the homo-ygous recessive male. Thus the
genotype of this female is #h h s# 7 #h
'
h
'
s#
'
.
b. This is a test cross &ith three linked genes) but there are only 6 classes of data (0 reciprocal pairs
instead of @ classes. The missing reciprocal pair is .h 9 9 and 9 h s.. This pair must be the least
fre"uent 2C8 class. Comparing the .h 9 9 2C8 class to the 9 9 9 parental class (the most
similar sho&s that .h is the gene that differs so .h must be the gene in the middle. The h to .h
distance is 05 9 04 < :### % #.#6I % 6.Imu. The .h to s. distance is 0F 9 00 < :### % #.#F % Fmu.
The best &a$ is(
6.I
th
6.I mu F.# mu
h s.
c. C A 1 M coe))icient o) coincidence? coe))icient o) coincidence A obser-ed /HI 7 e6$ected /HI.
Thus coe))icient o) coincidence A 0 7 !0.069"!0.07" A 0 and C A 1 M 0 A 1. The interference is
complete.
5-29. 2iagram the cross:
1 C S < 1 C S (Virginia strain ! * c s < * c s (Carolina strain N (
:
1 C S < * c s ! * c s < * c
s N B
1ssume no interference) and remember the map of these 0 genes:

6 mu :F mu
= C +
Sou are being asked to calculate the proportion of the test cross progeny that &ill have the Virginia
parental phenotype. ,n Chapter 0 &e could ans&er this "uestion by calculating the monohybrid ratios
each pair of alleles: 1 : *) C : c and S : s in the hetero-ygous parent. The test cross parent can only
Classes of gametes Genotype 6umbers
.arental (.
.h h s.
+ + +
40'
4'I
recombinant
.h h +
+ + s.
0F
00
recombinant
.h + s.
+ h +
05
04
I: Chapter 5
provide the recessive alleles for each gene) so the probabilities of the various phenotypes can be
determined by applying the product rule. Hnfortunately) this method of arriving at the probability of the
progeny phenotypes only &orks &hen the genes under discussion are assorting independentlyE 3hen the
0 genes are linked) as in this problem) to calculate the fre"uency of a parental class &e must calculate
first calculate the fre"uencies of 1TT of the phenotypes e!pected in the test cross progenyE
1 parent that is hetero-ygous for 0 genes &ill give @ classes of gametes. ,n a test cross) the gamete
from the hetero-ygous parent determines the phenotype of the progeny. 3hen the 0 genes are
genetically linked) these @ classes &ill be found as 4 reciprocal pairs. ,n other &ords) each meiotic
event in the hetero-ygous parent must give ' reciprocal products that occur in e"ual fre"uency. (or
instance) a meiosis &ith no recombination &ill produce the parental gametes) 1 C S and * c s in e"ual
fre"uency. This particular reciprocal pair &ill also be the most likely event and so the most fre"uent
pair of products. The least probable meiotic event is a double crossover &hich is a recombination event
in the region bet&een 1 and C (region : and simultaneously in the region bet&een C and S (region '.
The remaining gametes are produced by a single crossover in region : (the reciprocal pair kno&n as
single crossovers in region : and a single crossover in region ' (the reciprocal pair kno&n as single
crossovers in region '.
The numbers sho&n on the map of this region of the chromosome represent the recombination
fre"uencies in the gene/gene intervals. There are 6 mu bet&een the = and C genes) so 6$ (rf % #.#6 of
the progeny of this cross &ill have had a recombination event in region :. This recombination
fre"uency includes all detectable recombination events bet&een these ' genes / both +C8 in region :
162 2C8. Tike&ise) :F$ of all the progeny &ill be the result of a recombination event in region '.
The 2C8 class is the result of a simultaneous crossover in region : and region '. *ecombination in
t&o separate regions of the chromosome should be independent of each other) so &e can apply the
product rule to calculate the e!pected fre"uency of 2C8s. Thus fre"uency of 2C8 % (#.#6 ! (#.:F %
#.#:. *emember that the recombination fre"uency bet&een 1 and C (region : includes both +C8 :
and 2C8. Thus) #.#6 % +C8 : 9 #.#:G solve for +C8 : % #.#6 / #.#: % #.#5. The same calculation for
region ' sho&s that +C8 ' % #.:6. The parental class % : / (+C8 : 9 +C8 ' 9 2C8. 1lso remember
that each class of gametes (parental) etc. is made up of a reciprocal pair. ,f the fre"uency of the 2C8
class is #.#:) then the fre"uency of the 1 c S gamete is half of that % #.##5. This is summari-ed in the
table belo&.
Chapter 5 I'
Classes of
gametes
Genotype
(re"uency of
reciprocal pair
6umbers
(re"uency of
each class
.arental
(.
1 C S
* c s
: / all else
: / (#.#5 9 #.:6 9 #.#:
% #.F@
#.0I
#.0I
+C8 :
1 c s
* C S
rf in region : %
+C8 : 9 2C8
+C8 : % #.#6 / #.#: %
#.#5
#.#'5
#.#'5
+C8 '
1 C s
* c S
rf in region ' %
+C8 ' 9 2C8
+C8 ' % #.:F / #.#: %
#.:6
#.#@
#.#@
2C8
1 c S
* C s
(rf in region :
! (rf in region '
(#.#6 ! (#.:F % #.#:
#.##5
#.##5
a. The $ro$ortion o) bac,cross $rogen# rese&bling Nirginia !$arental8 $ C S" A 0.39.
b. rogen# rese&bling % c s !" A 0.39.
c. rogen# with $ c S !/HI" A 0.005.
d. rogen# with $ C s !DHI 2" A 0.8.
5-30.
a. *ecombination does 68T occur in male Drosoph(la. Therefore) in the cross A b < a B M ! A b < a
B L N (
:
the females &ill make 4 types of gametes (parental A b and a B# recombinant A B and
a b. The fre"uencies of the ' parental gametes &ill be e"ual to each other) and the fre"uency of the
A B recombinant &ill be e"ual to the fre"uency of its reciprocal recombinant) a b.
)e&ale ga&etes
&ale ga&ete
A b
&ale ga&ete
a B
A b
5parental7
A b < A b
(A- bb
A b < a B
(A- B-
a B
5parental7
a B < A b
(A- B-
a B < a B
(aa B-
A B
5recombinant7
A B < A b
(A- B-
A B < a B
(A- B-
a b
5recombinant7
a b < A b
(A- bb
a b < a B
(aa B-
There is a ratio of :<4 A- bb : :<' A- B- : :<4 aa B- for the progeny receiving the parental gametes
162 the same ratio among the progeny receiving the recombinant gametes. Thus) the o-erall
$henot#$ic dih#brid ratio will alwa#s be 174 A& bb ( 172 A& B& ( 174 aa B&8 inde$endent o) the
reco&bination )re*uenc# between the 2 and . genes.
This will not be true o) the cross A B 7 a b < 6 A B 7 a b '. The male &ill make the
parental gametes) A B and a b) &hile the female &ill make 4 types of gametes: parental A B and a
bG recombinant A b and a B. ,n this case) as in problem 5/:F) half of the progeny &ill look A/ B/
I0 Chapter 5
because they received the A B gamete from the male parent irrespective of the gamete from the
female parent. 3hen the male parent donates the a b gamete) then it is the gamete from the female
parent that determines the phenotype of the offspring. The progeny that are A- bb and aa B- have
received a recombinant gamete from the female parent (and the a b gamete from the male. These
classes of progeny can then be used to esti&ate the reco&bination )re*uenc# between the A and
B genes( r) A 2!L o) A- bb ' L o) aa B-"7total $rogen#.
b. ,n mice) recombination occurs in both females and males. Therefore) in the cross A b < a B M ! A
b < a B L both se!es &ill make the same array of gametes (parental A b and a B# recombinant A B
and a b. ,n this case) the only phenotype of progeny &ith a singular genotype &ill be aa bb. ,n the
cross under consideration here) the aa bb phenotype can only arise if both parents donate the a b
recombinant gamete. 8f course) the other recombinant gamete) A B) occurs &ith e"ual fre"uency.
The probability of the aa bb genotype % (probability of an a b recombinant gamete
'
. ,f you kno&
the fre"uency of the aa bb phenotypic class in the progeny) reco&bination )re*uenc# !)re*uenc#
o) reco&binant $roducts" between the A and B genes A 2!KLaa bb7L total $rogen#".
,n the case of the A B < a b M ! A B < a b 2 cross in mice) both se!es are making the same
parental gametes (A B and a b and recombinant gametes (A b and a B gametes. 1gain) the only
phenotype of progeny &ith a singular genotype &ill be aa bb. ,n this e!ample) this phenotype is the
result of the fusion of the a b parental gamete from each parent. The fre"uency of the aa bb
phenotype % (the fre"uency of the a b gamete ! (the fre"uency of the a b gamete. ,f you kno& the
fre"uency of the aa bb phenotypic class in the progeny) the )re*uenc# o) non-reco&binant
$roducts between the A and B genes A 2!KLaa bb"7L total $rogen#. %eco&bination )re*uenc# A
1 - )re*uenc# o) non-reco&binant $roducts between the A and B genes.
5-31. ,n cross ;: the criss/cross inheritance of the recessive alleles for d&arp and rumpled from mother
to son tells you that all these genes are >/linked. ,n cross ;') you see the same pattern of inheritance
for pallid and raven) so these genes are >/linked as &ell. The fact that the (: females in both crosses
&ere &ild type tells you that the &ild type allele of all 4 genes is dominant to the mutant allele.
2esignate alleles: d!p
+
and d!p for the d&arp gene) r*p
+
and r*p for the rumpled gene) pld
+
and
pld for the pallid gene) and r$
+
and r$ for the raven gene. 1ssign the genes an arbitrary order to &rite
the genotypes. ,f you keep the order the same throughout the problem) it is sufficient to represent the
&ild type allele of a gene &ith 9.
Cross :: d!p r*p + + / d!p r*p + + ! + + pld r$ / S N d!p r*p + + / + + pld r$ (&ild/type
females and d!p r*p + + / S (d&arp rumpled males.
Chapter 5 I4
Cross ': + + pld r$ /+ + pld r$ ! d!p r*p + + / S N + + pld r$ / d!p r*p + +

(&ild/type
females and + + pld r$ / S (pallid raven males.
d!p r*p + + / + + pld r$ (cross : (
:
females ! d!p r*p pld r$ / S N 4'@ 9 9 pa ra) 4'F d! ru
9 9) 4@ 9 ru pa ra) 4F d! 9 9 9) '0 9 ru pa 9) '' d! 9 9 ra) 0 9 9 pa 9) ' d! ru 9 ra.
1ll 4 genes must be linked) as they are all on the > chromosome. Sou e!pect :6 classes of progeny (' !
' ! ' ! ' in @ genetic and numeric pairs. 6otice that there are only @ classes of progeny. The data that
is seen sho&s e!actly the pattern you e!pect for a female that is hetero-ygous for 0 linked genesE ,f '
of the 4 genes 6CVC* recombine then you &ould e!pect the pattern of data that is seen. ,f ' genes
never recombine) they &ill al&ays sho& the parental configuration of alleles. Thus) e!amine the various
pairs of genes for the presence or absence of recombinants. 6ote that you never see recombinants
bet&een pall(d and d!arp: all the progeny are either pallid or d&arp) but never pallid and d&arp nor
&ild type for both traits. This suggests that the t&o genes are so close together that there is essentially
no recombination bet&een the loci. ,f a much larger number of progeny &ere e!amined) you might
observe recombinants. Treat d!p and pld as ' genes at the same location) so one of them (d!p) for
instance can be ignored) and this problem becomes a three/point cross bet&een pld" r$ and r*p.
3hen the r*p + r$ 2C8 class is
compared to the r*p + + parental class)
you can see that rv is in the &iddle. The
r%p - rv r) A !48 ' 47 ' 3 ' 2"71000 A 10
c3? the pld - rv r) A !22 ' 23 ' 3 '
2"71000 A 5 c3. , % : / cocG coc % observed fre"uency of 2C8<e!pected fre"uency of 2C8. +o coc %
(5<:###<(#.#5(#.: % #.##5<#.##5 % :G , % : / : % #) so there is no inter)erence.

5 mu :# mu
d!p/pld r*p r$
Section 5.5 Tetrad Analysis
5-32.
a. This data is presented as phenotypes of individual spores. 4ecause there is data for 0 genes) this
may be analy-ed as a 0 point cross. 8rgani-e the data into reciprocal pairs of spores.
Classes of
gametes
Genotype 6umbers
Classes of gametes Genotype 6umbers
.arental (.
d!p r*p + +
+ + pld r$
4'F
4'@
+C8 :
+ r*p pld r$
d!p + + +
4@
4F
+C8 '
d!p + + r$
+ r*p pld +
''
'0
2C8
+ + pld +
d!p r*p + r$
0
'
I5 Chapter 5
.arental
(.
3 + +
a 4 5
0:
'I
+C8 :
a + 5
3 4 +
6
6
+C8 '
3 + 5
a 4 +
:0
:4
2C8
a + +
3 4 5
:
:
The 3 4 5 2C8 spore type is most similar to the a 4 5 parental spore type. Thus) the mating type
(a<3 is the gene in the middle. The distances are: 4 / a<3 % (6 9 6 9 : 9 :<:#: % :0.I c= and a<3
to 5 % (:0 9 :4 9 : 9 :<:#: % '@.F c=.

:0.I mu '@.F mu
4
a/
5
b. This problem says you have an ascus &ith an 3 4 5 spore. This spore is the result of a double
crossover (see part a. The reciprocal product &ould be the a + + spore) but this is not seen in the
ascus. *emember that there are 0 different types of double crossovers / ' strand 2C8s) 0 strand
2C8s and 4 strand 2C8s. Cach of these types of 2C8s gives a different array of spores in the
resulting ascus (Figure 5.17. 2ra& a meiotic figure of this chromosome and try some different
types of 2C8s. 2 3 strand /HI gi-es the desired result.

5
9
3
4
9

4
9

5
9
3
4 5 a
4 5 a
5-33.
a. The number of meioses represented here is the total of the number of asci % 334. Cach ascus
contains the 4 products of one meiosis.
b. 2iagram the cross: a 9 c ! 9 b 9
To map these genes) use the Three Easy Rules for Tetrad Analysis. (irst designate the type of
asci represented. This has to be done for each pair of loci as .2 (.) 6.2 (6 and T refer
e!clusively to the relationship bet&een t&o genes. ,n the table belo&) the top ro& sho&s the
Chapter 5 I6
designations for all three pairs: the a/b comparison is at the lo&er left) the b/c comparison is at the
lo&er right and the a/c comparison is at the top of the pyramid.
.
. .
.
6 6
T
T .
T
T 6
6
6 .
.
T T
a + c a b c + + c + b c a b + a + c
a + c a b c a + c a b c a b + a b c
+ b + + + + + b + + + + + + c + + +
+ b + + + + a b + a + + + + c + b +
:0F :4: '6 '5 ' 0
, , , , , , ,, , , ,, , , , , , , ,, ,
Rule #1: (or genes a and b .2 % 6.2) so these t&o genes are not linked. (or genes b and c .2 %
6.2) so genes b and c are not linked. (or genes a and c) .2JJ6.2) so the genes are linked.
Calculate rf bet&een a and c % ' 9 :<'('6 9 '5<004 % @.' c= (Rule #2).
Gene/centromere distances can be calculated in Neurospora (Rule #3) so analy-e the data for
=, and =,, segregation patterns for the alleles of each gene in each ascus type. This analysis is
done separately for each gene) unlike the gene / gene analysis done above. The designation for each
gene is presented under that gene at the bottom ro& of the table (, / =,) ,, % =,,. Rule #2sho&s
that the distance bet&een a and its centromere % :<'('6 9 '5<004 % F.6 muG the distance bet&een
b and its centromere % :<'(0<004 % #.4 muG the distance bet&een c and its centromere %
:<'(#<004 % #.
6o& compile all of these pieces of data into one map. Rule #1sho&s that gene b is #.4 mu
from its centromere and is on a different chromosome from genes a and c. Genes a and c are on the
same chromosome) so the a/centromere distance and the c/centromere distance refer to the same
centromere. Gene c is # mu from the centromere. 1s you can see from the map) there are ' slightly
different distances for the gene a to gene c region / the gene/gene distance is @.' mu and the a/
centromere distance is F.6 mu. ,n this case the longer gene/gene distance is more accurate
as it includes the +C8s bet&een a and c as &ell as some of the 2C8s bet&een a and c (the 4
strand 2C8) Figure 5.17.

a b
@.' mu #.4 mu
c
F.6 mu
c. Carefully consider the information you have for the different chromosomes in the ascus type chosen
(the group &ith 0 members. The a and c genes sho& .2 segregation) &hich can mean either no
IF Chapter 5
crossing over bet&een them or a ' strand 2C8. 4oth genes sho& =, segregation) &hich means
there havenQt been any single crossovers bet&een either gene and the centromere. Oene b shows
3CC segregation8 which &eans there has been an DHI between the gene and its centro&ere.
This crossover also means the a-b and c-b comparisons in this class &ill sho& the tetratype pattern
(T are due to crossovers bet&een either gene and its centromere &hen the genes are on separate
chromosomes.

b
9

b
9

b
b
a
c
c
a
a
+

c
+

c
+

a
+

5-34. Hse the Three Easy Rules for Tetrad Analysisto help you solve this problem.
a. ,n cross :) the number of .2 (parental ditypes % 6.2 (nonparental ditypes so the ad gene and
the mating type locus assort independently. ,n cross ' the number of .2 JJ 6.2 so &e can
conclude the p gene and the mating locus are linkedG rf p / *a.()5 .ype % (6.2 9 :<'T< total
tetrads % (0 9 (:<'('F<54 %:6.5<54% .0: :## % 0: c= bet&een the t&o genes.

0: mu
*a. locus p ad
b. To calculate gene-centro&ere distances #ou need in)or&ation on the order o) ascos$ores in
each ascus t#$e. 8nly &ith this information can you calculate gene / centromere distances based
on :<'(; of asci sho&ing =,, segregation for the gene<total asci.
5-35. 2iagram the cross and summari-e the data: *e.
-
lys
-
! *e.
+
lys
+

. T
*e.
+
lys
+
*e.
+
lys
+
*e.
+
lys
+
*e.
-
lys
+
*e.
-
lys
-
*e.
+
lys
-
*e.
-
lys
-
*e.
-
lys
-
@I ::
Chapter 5 I@
a. The two t#$es o) cells in the )irst grou$ o) 89 asci are %"#
+
l(s
+
!could grow on all )our t#$es
o) &edia" and %"#
&
l(s
&
!re*uire the addition o) &et and l#s to &ini&al &ediu&". These asci are
parental ditypes (.2. The four types of cells in the second group of :: asci are %"#
+
l(s
+
) %"#
+
l(s
&
!grew on &in ' l#s and on &in ' l#s ' &et"? %"#
&
l(s
+
!grew on &in ' &et and on &in ' l#s
' &et"? and %"#
&
l(s
&
* These are tetratype (T asci.
b. 4ecause the number of .2JJJ 6.2) the genes are lin,ed. The distance bet&een them is:
(6.2 9 :<'(T < total tetrads % (# 9 :<'(::<:## :## % 5.5 &.u.
c. 6.2 should be seen eventually and &ould result from four strand double crossovers. There &ould
be t&o types of spores: *e.
-
lys
+
(could gro& on min 9 met and on min 9 met 9 lys and *e.
+

lys
-
(could gro& on min 9 lys and on min 9 met 9 lys.
5-36. Genes a" b" and c are all on different chromosomes. Thus) all crosses bet&een these genes are
e!pected to give an e"ual number of .2 and 6.2 asci. The fact that the cross involving genes a and b
yields no T indicates that genes a and b are both -er# close to their res$ecti-e centro&eres. ,f t&o
genes are on separate chromosomes) tetratypes arise &hen a crossover occurs bet&een one of the genes
and its centromere or bet&een the other gene and its centromere. ,n the crosses involving genes a and c
or genes b and c" many T asci are seen. 4ecause genes a and b are tightly centromere/linked) gene c
&ust be -er# )ar )ro& its centro&ere in order to generate these T asci.
5-37.
a. The genotype of a true breeding &ild type diploid strain of Saccharo*yces can be &ritten 9 < 9. ,f
this diploid undergoes meiosis) all !100B" o) the asci will ha-e 4 -iable s$ores.
b. The genotype of this strain is 9 < )) &here ) % a null activity allele of an essential gene. The diploid
cells &ill be viable) because they have functional en-yme for this essential gene from the 9 allele. ,f
this diploid undergoes meiosis) then all !100B" o) the tetrads will ha-e 2 ' ( 2 n s$ores !that is8
onl# 2 s$ores in each tetrad will be -iable".
c. Gene a and gene b are different essential genesG a and b represent temperature/sensitive alleles of
these genes. 3hen you diagram a cross you must &rite complete genotypes for both haploid
parents: a b
+
(strain a ! a
+
b (strain b N aa
+
bb
+
. Cach haploid parent strain &ill die &hen
gro&n under restrictive conditions because they cannot produce a re"uired product) &hile the
diploid cells are viable because they have a &ild type allele for both genes.
,f these genes are unlinked) then after meiosis .2 asci % 6.2 asci (Q0 Casy *ules for Tetrad
1nalysisQ rule ;:. 3hen the genes are unlinked) also remember that T tetrads (asci arise from
II Chapter 5
+C8s bet&een either gene and its centromere. 4ecause both of these genes are # mu from their
centromeres) you &ill not see T asci. Thus) after meiosis) you &ill have 5#$ .2 (' a b
+
spores : '
a
+
b spores : 5#$ 6.2 (' a
+
b
+
: ' a b. 6one of the spores in the .2 tetrads are viable under
restrictive conditions) &hile ' of the 4 spores in the 6.2 asci are viable (a
+
b
+
. Thus) 50B o)
the asci will ha-e 0 -iable s$ores !/" and 50B o) the asci will ha-e 2 -iable s$ores !1/".
d. 1gain genes a and b are unlinked essential genes) but no& gene a/centromere % # mu and gene b/
centromere % :# mu. 1 +C8 bet&een gene b and its centromere &ill happen in '#$ of the asci
(because only half of the ascospores of an +C8 are recombinant and &ill give T asci. 1 T ascus
&ill have a spore ratio of : a
+
b
+
: : a b : : a b
+
: : a
+
b. There is : viable spore (a
+
b
+
in a T
ascus. The remaining @#$ of the asci &ill be e"ually divided bet&een .2 and 6.2 because the
genes are unlinked. Thus) 40B o) the asci will ha-e 0 -iable s$ores !/"8 40B o) the asci will
ha-e 2 -iable s$ores !1/" and 20B o) the asci will ha-e 1 -iable s$ore !T".
e. 4ecause both genes are on the same chromosome) you can diagram this cross: a b
+
(strain a !
a
+
b (strain b N a b
+
< a
+
b. 3hen the genes are linked) +C8 and 0 strand 2C8 bet&een the
genes give T asci and 4 strand 2C8 bet&een the genes gives 6.2 asci. The remainder of the asci
are .2 (no crossover and ' strand 2C8. ,f the recombination fre"uency bet&een gene a and gene
b % # mu) then the only possible result &ill be .2 asci (' a b
+
: ' a
+
b in &hich none of the
spores are viable. Thus) 100B o) the asci will ha-e 0 -iable s$ores.
f. 6o& the genes are :# mu apart and there are no 2C8 events. This means that '#$ of the asci
produced &ill be T (see part d and the remaining @#$ &ill be .2. Therefore) 80B o) the asci will
ha-e 0 -iable s$ores !/" and 20B o) the asci will ha-e 1 -iable s$ore !T".
g. 1 4 strand 2C8 gives an 6.2 ascus. The genotypes of the spores &ill be ' a
+
b
+
: ' a b. Thus) 2
o) the 4 s$ores will be -iable.
5-38. Genes c and d are a total of '' mu apart.
a. ,f interference % :) then there are no double crossovers (2C8. Therefore) all the recombinants
bet&een the ' genes are due to single crossovers (+C8. ,f t&o genes are linked) then +C8s
bet&een the genes give tetratype asci (T. *emember that the rf bet&een C and D is #.'') 2C8
bet&een C and D is # (so there can be no 1/ tetrads) and the formula for recombination
fre"uency bet&een ' genes % 6.2 9 :<'(T<total asci. +olve for T: #.'' % # 9 :<'(T so T %
'(#.'' % #.44. Therefore) 44B o) the asci will be tetrat#$es and the re&aining 56B will be
$arental dit#$es.
Chapter 5 :##
b. ,nterference % #) so 2C8s &ill occur in the e!pected fre"uency (see problems 5/'I and 5/'5. The
e!pected fre"uency of 2C8 % (recombination fre"uency in the C/D region ! (recombination
fre"uency in the C/D region % (#.'' ! (#.'' % #.#4@4. The rf bet&een C/D % +C8 9 2C8G so
#.'' % +C8 9 #.#4@4G +C8 % #.'' / #.#4@4 % #.:F:6. ,f +C8 fre"uency bet&een C and D %
#.:F:6 then T due to +C8 % #.040' (see part a of this problem.
*emember that &hen analy-ing tetrads the three different types of 2C8s can be distinguished:
' strand 2C8s) &hich give .2 asciG 0 strand 2C8s) &hich give T asciG and 4 strand 2C8s) &hich
give 6.2 asci (Figure 5.17b-). These 2C8s occur in the ratio of :<4 (' strand 2C8s : :<' (0
strand 2C8s : :<4 (4 strand 2C8s. ,f the total 2C8 fre"uency % #.#4@4 then :<4 (#.#4@4 %
#.#:': is the fre"uency of 4 strand 2C8s (6.2) :<' (#.#4@4 % #.#'4' is the fre"uency of 0
strand 2C8s (T and the remaining :<4 of the 2C8s (#.#:': are ' strand 2C8s) &hich &ill be
.2 tetrads.
,n total) 1/ A 0.01218 T A 0.0242 !due to /HI" ' 0.3674 !due to DHI" A 0.3795 and the
re&ainder are / A 0.6205.
c. ,n Neurospora the recombination events that underlie the formation of .2) 6.2 and T are the
same as in yeast. The difference is that the ordered tetrads allo& you to distinguish &hether a +C8
event occurs bet&een C and the centromere or bet&een D and the centromere. ,f the +C8 occurs
bet&een C and the centromere then you &ill see =,, segregation for the alleles of the C gene and
=, segregation for the alleles of the D gene. ,f the +C8 occurs bet&een D and the centromere then
you &ill see the reverse / =, segregation for C and =,, segregation for D.
Aere) , % :) so there are no 2C8s. Therefore) as in part a) T % #.44 and .2 % #.56. Ao&ever
F<'' of the +C8 events occur bet&een gene C and the centromere) &hile the remaining :5<'' of
the +C8s occur bet&een D and the centromere. The e6$ected results are su&&ari9ed in the
table below.
crossover type and location:
no
crossover
+C8 C/cent. +C8 D/cent
ascus type: .2 T T
=, or =,, gene C: =, =,, =,
=, or =,, gene D: =, =, =,,
fre"uency: #.56 F<'' ! #.44 % #.:4
:5<'' ! #.44 %
#.0#
d. Aere) , % #) so 2C8 events are occurring at the e!pected fre"uencies. The fre"uencies of each of
the 2C8 events is as in part b. 1 2C8 represents a single meiosis in &hich a crossover in the first
region (C to centromere happens simultaneously &ith a crossover in the second region (centromere
to D. Thus any of the 2C8 events &ill sho& =,, segregation for both genes. The e6$ected
results are su&&ari9ed in the table below.
:#: Chapter 5
crossover type
and location:
no
crossove
r
+C8
C/cent.
+C8
D/cent
2C8
' strand
2C8
0 strand
2C8
4 strand
ascus type: .2 T T .2 T 6.2
=, or =,, gene C: =, =,, =, =,, =,, =,,
=, or =,, gene D: =, =, =,, =,, =,, =,,
fre"uency: #.5'@
F<'' !
#.4:I
% #.:4
:5<'' !
#.4:I
% #.0#
:<4 ! #.#:#5
% #.##0
:<' !
#.#:#5
% #.##5
:<4 !
#.#:#5
% #.##0
5-39. 2iagram the yeast cross: h(s
-
.rp
+
! h(s
+
.rp
-
N h(s
-
h(s
+
.rp
+
.rp
-
N '00 .2) :: 6.2)
:56 T.
a. The / asci &ust ha-e 2 his
&
#rp
+
( 2 his
+
#rp
&
s$ores8 the 1/ asci ha-e 2 his
+
#rp
+
( 2 his
&

#rp
&
s$ores and the T asci ha-e 1 his
&
#rp
+
( 1 his
+
#rp
&
( 1 his
+
#rp
+
( 1 his
&
#rp
&
s$ores.
b. /PP1/ so the genes are lin,ed? r) between 2 genes A 11 ' 172!156"7400 A 22.3 &u.
c. 4ecause the genes are linked) you kno& that 6.2 asci are the result of 4 strand 2C8s. This sort
of 2C8 is :<4 of all the 2C8 events. The 0 strand 2C8s (:<' of all 2C8s give T &hile ' strand
2C8s (:<4 of all 2C8s give .2. ,n the data you see :: 6.2 tetrads) or :: meioses that
under&ent 4 strand 2C8s. There are another '' tetrads that are the result of 0 strand 2C8s (and
are Ts) and another :: asci that under&ent ' strand 2C8s (and are .2s) for a total o) !11 ' 22 '
11 A" 44 asci that underwent 2 crosso-ers. The re&aining !156 - 22 A" 142 T asci underwent a
DHI8 or 1 crosso-er8 and the re&aining !233 - 11A" 222 / asci underwent 0 reco&bination
e-ents.
d. There are 44 asci that under&ent 2C8s for a total of @@ crossover events. There &ere another :4'
asci that under&ent +C8s. Thus) there &ere :4' 9 @@ % '0# crossover events < 4## meioses %
0.575 crosso-ers7&eiosis.
e. The e"uation for recombination fre"uency bet&een ' genes used in the te!tbook and in part b
above only includes 4 strand 2C8 (6.2. This )or&ula ignores 3 strand and 2 strand /HIs.
This calculation for recombination fre"uency assumes that all T asci are due to +C8s. Though this
is true for the maKority of T asci) a small proportion of T asci are due to 0 strand 2C8 events.
1lso) it is an oversimplification to assume that all .2 asci are non/recombinant) because a very
fe& of them are due to ' strand 2C8s. *emember that the 0 types of 2C8 events occur in a ratio
of :<4 ' strand 2C8 : :<' 0 strand 2C8 : :<4 4 strand 2C8. 3ith this information &e can derive
a more accurate formula for recombination fre"uency bet&een ' genes % +C8 9 2C8<total asci: r)
A 172!T M 21/" ' 4!1/"7total asci % :<'(T 9 0(6.2<total asci. =any yeast geneticists use
this more accurate formula in preference to the one in your te!tbook.
Chapter 5 :#'
f. rf % :<'(:56 O '' 9 4(::<4## % :<'(:04 9 44<4## % :::<4## % #.'F@ % 27.8 &u. 1s you can
see) this is some&hat larger than the distance calculated in part b.
5-40.
a. *efer to the three strains as trp:) trp' and trp0. *emember that in Neurospora the 4 meiotic
products undergo a subse"uent mitosis to give @ spores in the ascus. Ao&ever) the first ' spores are
identical to each other (they are mitotic products of the same initial spore) the 0d and 4th spores
are the same as each other) and so on. (or the purposes of discussing the results) assume that the
ascus is made up of the 4 original spores prior to this e!tra mitosis. Sou cross .rp%
/
! &ild type
N diploid N ' &ild type : ' .rp%
/
. Sou are seeing a monohybrid ratio of :::) &hich means there
is only one gene controlling the .rp
/
phenotype in strain trp:. Cach of the strains gives the same
result) so in each ha$loid strain a single &utant gene is res$onsible )or the #rp
-
$henot#$e.
b. (irst consider the cross bet&een trp0 and &ild type. The diploid is .rp'
-
< .rp'
+
. 1fter meiosis the
first ' spores &ere either both .rp'
+
(could gro& on minimal media or they &ere both .rp'
-
(could
not gro& on minimal media. Thus) all the asci &ere ' .rp'
-
: ' .rp'
+
) and the order of the alleles
&as either / / 9 9 or 9 9 / /. ,n other &ords) all the asci sho&ed =, segregation for the .rp' geneE
,n the case of the crosses &ith .rp%
-
! &ild type and .rp&
-
! &ild type) the resultant diploids gave
some asci that gave a different result / only one spore of the top ' &as trp
9
&hile the other one &as
trp
/
. ,n other &ords) these asci sho&ed =,, segregation for the .rp gene in "uestion. ,n summary)
the #rp+ gene is -er# closel# lin,ed to its centro&ere !no T A no crosso-ers between the gene
and the centro&ere"8 while the #rp, and #rp2 &utations are )urther )ro& their centro&ere!s".
c. ,f ' strains have mutations in the same gene) then the resulting diploid &ould be unable to gro& on
minimal media .rp6
-
< .rp6
-
and &ould give asci &here all 4 spores &ere .rp6
-
(# spores viable on
minimial media. This result is never seen) so each mutant strain must have a mutation in a
different gene) for a total of 0 different .rp
-
genes in the 0 strains. 2iagram the cross bet&een #rp,
and #rp2: .rp%
-
.rp&
+
! .rp%
+
.rp&
-
N .rp%
-
.rp%
+
.rp&
+
.rp&
-
. 3hen this diploid is allo&ed to
undergo meiosis you see 78 asci &ith # viable spores (' .rp%
-
.rp&
+
: ' .rp%
+
.rp&
-
A / / see
problem 5/00f and 22 asci &ith '<@ or :<4 viable spores (: .rp%
+
.rp&
+
: : .rp%
-
.rp&
-
: : .rp%
-

.rp&
+
: : .rp%
+
.rp&
-
A T". ,n the #rp, 6 #rp+ cross you see a ne& class of asci) those &ith ' viable
spores (' .rp%
+
.rp'
+
: ' .rp%
-
.rp&
-
% 6.2. ,n this cross there are 46 /8 48 1/8 and 6 T
asci. ,n the last cross) #rp2 6 #rp+8 there are 42 /8 42 1/ and 16 T asci.
:#0 Chapter 5
d. ,n .rp% ! .rp& .2JJ6.2 (% # so the genes are linked. The T asci are caused by +C8s bet&een
the ' genes. The recombination fre"uency bet&een .rp% and .rp& % (# 9 :<'(''<:## % #.:: % ::
mu. ,n .rp% ! .rp' there are 46 .2 % 4@ 6.2 so the genes are unlinkedG the 6 T asci arise from
+C8s bet&een .rp% and its centromere. 6one of these T asci can arise from crossovers bet&een
.rp' and its centromere because you found in part b that they &ere very tightly linked. Thus) .rp%
is 0 mu from its centromere. ,n the cross bet&een .rp& ! .rp') .2 % 6.2 so the genes are
unlinked. There are :6 T asci) so gene ' must be @ mu from its centromere. The &a$ is shown
below.

@ mu 0 mu
:: mu
.rp' .rp% .rp&
e. 8rdered octads sho& the segregation pattern for each gene separately. ,n this e!ample) both
&utant genes gi-e the sa&e $henot#$e !tr$
-
". Thus8 it is i&$ossible to deter&ine i) a tr$
-

s$ore is ' - or -- or - '. ,f you cannot distinguish these different types of spores) then you cannot
determine the segregation pattern (=, vs =,, for the individual genes.
f. :ou can calculate gene-centro&ere distances because #ou disco-ered that one o) the genes
!#rp+" is tightl# lin,ed to its own centro&ere. Therefore) &hen .rp'
-
is crossed &ith either of the
other mutants) any T asci must be due to +C8 bet&een the other gene and its centromere) and these
T asci can then be used to calculate a distance bet&een the other gene and its centromere. This
same sort of analysis can also be used in yeast to map gene/centromere distances if a strain is
available &ith a mutation kno&n to be right at a centromere.
Section 5.6 Mitotic Recombination and Genetics Mosaics
5-41.
a. *ed sectors arise &hen one cell in the gro&ing colony becomes ade&
-
/ ade&
-
. 1s all the cells
continue to gro&) the colony continues to e!pand and the ade&
-
/ ade&
-
cells form a red sector
&ithin the &hite colony (Figure 5.25. %ed cells o) the ad"2
&
/ ad"2
&
genot#$e could arise b#
&itotic reco&bination !Figure 5.24"8 b# loss o) the entire chro&oso&e containing the ad"2
+

allele8 b# a deletion o) the $ortion o) the chro&oso&e containing the ad"2
+
allele8 or b#
s$ontaneous &utation o) the ad"2
+
allele to an ad"2
&
allele.
Chapter 5 :#4
b. The si-e of the red sectors depends on &hen in the formation of the colony the event occurred to
form the initial ade&
-
/ ade&
-
cell. ,f the event occurred early in the formation of the colony there
&ill be a larger red sector than if the event occurred near the end of colony formation. 1ll of the
events mentioned in part a are rare) so in general they &ill occur later in colony formation &hen
there are more cells in &hich they could occur. 1s a result) &ost o) the red sectors will be s&all.
5-42. 1fter replication in the hetero-ygous diploid) each chromosome &ould be composed of a pair of
sister chromatids) as sho&n belo&. The centromeres on sister chromatids split and segregate from each
other during mitosis (Figure 5.24. The centromeres are numbered in the figure belo& so you can
follo& them more easily. (or e!ample) cen: and cen' segregate from each other) so chromatids : or '
and 0 or 4 &ill end up in a daughter cell. ,n a normal mitosis) this gives daughter cells that are
genotypically a b c le.h d e < a
+
b
+
c
+
le.h
+
d
+
e
+
and are phenotypically &ild type) like the original
cell. =itotic recombination can rarely occur bet&een non/sister chromatids) for e!ample bet&een
chromatid ' and 0. +everal possible locations for such recombination events are indicated by >/, / >/V
in the figure. 1ssume that no crossovers occur bet&een gene a and the ce) because they are so closely
linked.
cen4

V
,
,, ,,, ,V
cen'
b
+

b
+

a
+

a
+

e
+

e
+

d
+

d
+

le.h
+

le.h
+
c
+

c
+

e le.h
e le.h
b
b
c
c
d
d
a
a
cen:
cen0
Consider the results of the >/, crossover. ,n one possible segregation) chromatids ' and 4 segregate
into one daughter cellG this cell &ill be homo-ygous for the b
+
allele and hetero-ygous for the rest of
the genes on the chromosome. Thus) this cell &ill be phenotypically &ild type and indistinguishable
from the non/recombinant cells surrounding it. The reciprocal product &ill be the daughter cell &ith
chromatids : and 0 &hose genotype &ill be homo-ygous mutant for gene b and hetero-ygous &ild type
for everything else. This cell &ill continue to divide mitotically and give you a patch of b mutant tissue
in a sea of &ild type tissue. ,n effect) the genes that are further a&ay from the centromere than the site
of mitotic recombination become homo-ygous. 8ne segregant (the ' and 4 chromatids in this e!ample
&ill be homo-ygous &ild type) and thus indistinguishable from the non/recombinant cellsG the other
:#5 Chapter 5
segregant (the : and 0 chromatids here becomes homo-ygous for the mutant allele of the gene(s that
are further from the centromere than the crossover &hile those genes that are closer to the centromere
than the recombination event (or on the other side of the centromere) i.e. those genes unaffected by the
mitotic recombination event remain hetero-ygous. 6e!t consider crossover >/,,. ,n this case the same
segregations &ill give you a &ild type cell (chromatids ' and 4 &hile the reciprocal daughter cell &ill
be b
+
a
+
c le.h d e (lethal) chromatids : and 0. Crossover >/,,, &ill also give a lethal recombinant
product. Crossover >/,V &ill give a d e patch of mutant tissue) and crossover >/V &ill give a patch of
e mutant tissue. Thus) the onl# $henot#$es that will be )ound in sectors as a result o) &itotic
reco&bination will be b, ", and d " !L28 58 and 9".
Chapter 5 :#6
5-43. The genotype of the female fly is y
+
s)
+
< y s):

,
,,
y
s)
s)
y
y
+

s)
+

s)
+

y
+

a. The larger $atch o) #ellow tissue arises )ro& a &itotic crosso-er in region C. This &itotic
reco&bination will generate a cell o) the genot#$e ( sn
+
7 ( sn !$roble& 5-42". The s&aller
$atch o) tissue &ust ha-e arisen )ro& a second &itotic reco&bination between the centro&ere
and sn8 in region CC. This &ould produce cells that are y s) < y s). 4ecause the yello& patch is
larger) the recombination in region , occurred earlier in development. The yello&) singed cells are a
small patch &ithin a larger patch of yello& cells) so the mitotic crossover in region ,, happened
after (later in development than the crossover in region ,) and this second crossover happened in a
recombinant daughter cell of the first recombination event. 6o &onder these patches &ithin patches
are rareE
b. ,f the genotype of the female &as y
+
s) < y s)
+
) then a reco&bination e-ent in the region C
would gi-e #ou a detectabl# reco&binant cell with the genot#$e ( sn 7 ( sn
+
. 2 subse*uent
second &itotic crosso-er in region CC in one o) these originall# reco&binant ( sn 7 ( sn
+
cells
will gi-e #ou a $atch o) ( sn tissue inside a $atch o) #ellow tissue8 as in $art a.

y
sn
+
sn
+
y
,
,,
y
+

sn
sn
y
+

There is one mitotic recombination event &hich &ill give a different result in a y
+
s)
+
< y s)
female (part a than a y
+
s) < y s)
+
female (part b. 1fter a recombination event in region ,, the
female from part a &ill sho& a y s) patch of tissue. The other recombinant product &ill be
homo-ygous y
+
s)
+
) and thus indistinguishable from non/recombinant cells. The same sort of
recombination event in region ,, in the female from part b &ill give one daughter cell of genotype
:#F Chapter 5
y
+
s) < y
+
s) &hich &ill give a patch of s) tissue. The other product of the mitotic recombination
&ill be y s)
+
< y s)
+
and &ill give an adKacent patch of yello& tissue. This phenomenon is called
t&in spots.
5-44. Tist the phenotypes seen in the normal tissue and the '# tumors and their fre"uency of
occurrence:
/ normal tissue % 1
(
1
+
4
(
4
+
C
(
C
+
2
(
2
+
/ tumor type : % 1
(
4
(
4
+
C
(
C
+
2
(
% :' tumors
/ tumor type ' % 1
(
4
(
4
+
C
(
C
+
2
(
2
+
% 6 tumors
/ tumor type 0 % 1
(
4
+
C
(
C
+
2
(
% ' tumors
*emember that all of the tumor tissues &ere also homo-ygous for N7%
-
&hile the normal tissue is
hetero-ygous N7%
-
N7%
+
.
a. 3itotic reco&bination could have caused all 0 types of tumors.
b. *emember that mitotic recombination causes genes further from the centromere to become
homo-ygous) &hile genes bet&een the recombination event and the centromere) or those on the
other side of the centromere) remain hetero-ygous (revie& problem 5/4'. 6otice that all 0 types of
tumor cells are homo-ygous for N7%
-
) so by definition all '# mitotic recombination events that
gave rise to the '# tumors occurred bet&een the centromere and the N7% gene. 6otice also that all
'# tumors are homo-ygous for gene A) specifically the A
7
allele. 4ecause gene A is affected by all
of the mitotic recombination events) it must be further from the centromere than the N7% gene.
4ecause these tumors become homo-ygous for the A
7
allele) that allele must be on the same
homolog &ith the N7%
-
allele. There are 6 tumors that are homo-ygous for these ' genes (tumor
type '. 1s you &ork your &ay along the chromosome from N7% to&ard the centromere the ne!t
gene to also become homo-ygous is the D gene (tumor type :) specifically the D
7
allele) then the
B gene (tumor type 0) the B
S
allele. Gene C never becomes homo-ygous) yet &e are told it is on
this chromosome as &ell. Thus it could either be on the other side of the centromere from N7%) A)
D and B or it could be on the same side of the centromere as the rest of the genes but very closely
linked to the centromere (like the a gene in problem 5/4'. The order o) the genes and cou$ling o)
the alleles is shown below:
Chapter 5 :#@

C
7/S
C
7/S
D
7
N7%
-
+

B
S
A
7

C
7/S
A
S
B
7
N7%
+
+

D
S
C
7/S

,t is possible to use the &itotic recombination fre"uencies &ith &hich the various genotypes of
tumors arose as a rough) relative appro!imation of the distances bet&een the genes. These numbers
are 68T to be confused &ith the meiotic recombination fre"uency &e have been calculating in the
other problems in this and other chaptersE ,n tumor type ' the mitotic recombination event
happened bet&een gene N7% and gene D (N7%
-
is homo-ygous) and so further from the centromere
than the recombination event &hile gene D is still hetero-ygous) and this occurred in 6<'# tumors
% #.0) so the relati-e reco&bination )re*uenc# between -., gene D is 0.3. ,n tumor type : the
mitotic recombination event happened bet&een gene B and gene D (B is still hetero-ygous in these
tumors &hile D is homo-ygous D
7
) and this happened in :'<'# tumors % #.6) so the relati-e
reco&bination )re*uenc# between genes B and D is 0.6. ,n tumor type 0 the mitotic
recombination event happened bet&een the centromere and gene B (or bet&een gene C and gene B
if you place gene C on the same side of the centromere as the 6(: gene. This event happened in
'<:# tumors % #.: so the relati-e reco&bination )re*uenc# between the centro&ere and gene B
is 0.1.
c. ,n this mechanism an entire homolog of one chromosome is lost. ,f the lost homolog &as the one
&ith the N7%
+
allele) then the resulting cell would be he&i9#gous )or the -.,
&
allele8 and
would de-elo$ into a tu&or. This did 1IT occur here8 because 2EE 3 genot#$es o) tu&ors
are still hetero9#gous )or at least the C gene.
d. :es8 deletions o) $ortions o) the -.,
+
ho&olog which cause loss o) the -.,
+
allele could
cause tumors to develop in the resulting N7%
-
cells. ,f these deletions e!tended to the neighboring
genes A" D" or B" the tumor cells could sho& the same protein variants as in the problem. Tike&ise)
$oint &utations which inacti-ate the -.,
'
allele could cause tumors to develop in the resulting
N7%
/
cells.