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11
Mendel and
the Gene Idea
(Ayo)
Ayo website:
http://myweb.nutn.edu.tw/~hycheng/
Gregor Mendel
Figure 11.2
Technique
1
Mendels Experimental,
Quantitative Approach
2
Parental
generation
(P)
3
Stamens
Carpel
4
Results
5
First filial
generation
offspring
(F1)
6
Figure 11.3-1
Experiment
P Generation
Purple flowers
White flowers
Figure 11.3-2
Experiment
P Generation
Purple flowers
White flowers
F1 Generation
(hybrids)
Self- or cross-pollination
10
Figure 11.3-3
Experiment
P Generation
Purple flowers
White flowers
F1 Generation
(hybrids)
Self- or cross-pollination
F2 Generation
11
Table 11.1a
13
Table 11.1b
14
Mendels Model
Four related concepts make up this model
Figure 11.4
Pair of
homologous
chromosomes
16
Figure 11.5-1
P Generation
Purple flowers White flowers
Appearance:
PP
pp
Genetic makeup:
Gametes:
20
Figure 11.5-2
P Generation
Purple flowers White flowers
Appearance:
PP
pp
Genetic makeup:
Gametes:
F1 Generation
Appearance:
Genetic makeup:
Gametes:
Purple flowers
Pp
P
21
Figure 11.5-3
P Generation
Purple flowers White flowers
Appearance:
PP
pp
Genetic makeup:
p
Gametes:
F1 Generation
Appearance:
Genetic makeup:
Gametes:
Purple flowers
Pp
p
Sperm from
F1 (Pp) plant
F2 Generation
PP
Pp
Pp
pp
P
Eggs from
F1 (Pp) plant
p
:1
22
Figure 11.6
Phenotype
Genotype
Purple
PP
(homozygous)
Purple
Pp
(heterozygous)
Purple
Pp
(heterozygous)
White
pp
(homozygous)
Ratio 3:1
Ratio 1:2:1
26
The Testcross
How can we tell the genotype of an individual with
the dominant phenotype?
Such an individual could be either homozygous
dominant or heterozygous
Figure 11.7
Technique
Dominant phenotype,
unknown genotype:
PP or Pp?
Recessive phenotype,
known genotype:
pp
Predictions
If purple-flowered
parent is PP
Sperm
p
p
If purple-flowered
parent is Pp
Sperm
p
p
or
P
Pp
Eggs
Pp
Eggs
Pp
Pp
pp
pp
Pp
Pp
Results
or
All offspring purple
28
Figure 11.8a
Experiment
P Generation
YYRR
Gametes YR
F1 Generation
yyrr
yr
YyRr
31
Figure 11.8b
Hypothesis of
independent assortment
Hypothesis of
dependent assortment
Sperm
Predicted
offspring in
F2 generation
YR Yr yR yr
Sperm
YR yr
YR
YR
YYRR
Eggs
yr
YyRr
YyRr
Yr
Eggs
yyrr
yR
YYRR
YYRr
YyRR
YyRr
YYRr
YYrr
YyRr
Yyrr
YyRR
YyRr
yyRR
yyRr
YyRr
Yyrr
yyRr
yyrr
yr
9
16
16
16
16
108
101
32
Figure 11.9
Rr
Segregation of
alleles into eggs
Rr
Segregation of
alleles into sperm
Sperm
R
Eggs
36
Figure 11.UN01
39
Figure 11.UN02
40
1. Degrees of Dominance
Complete dominance occurs when phenotypes of
the heterozygote and dominant homozygote are
identical
In incomplete dominance, the phenotype of F1
hybrids is somewhere between the phenotypes of
the two parental varieties
In codominance, two dominant alleles affect the
phenotype in separate, distinguishable ways
Figure 11.10-1
P Generation
Red
CRCR
Gametes
White
CWCW
CR
CW
44
Figure 11.10-2
P Generation
Red
CRCR
Gametes
White
CWCW
CR
CW
Pink
CRCW
F1 Generation
Gametes CR CW
45
Figure 11.10-3
P Generation
Red
CRCR
White
CWCW
Gametes
CR
CW
Pink
CRCW
F1 Generation
Gametes CR CW
Sperm
CR CW
F2 Generation
CR
Eggs
CRCR
CRCW
CRCW
CWCW
CW
46
Multiple Alleles
Most genes exist in populations in more than two
allelic forms
For example, the four phenotypes of the ABO blood
group in humans are determined by three alleles of
the gene: IA, IB, and i.
The enzyme (I) adds specific carbohydrates to the
surface of blood cells
The enzyme encoded by IA adds the A carbohydrate,
and the enzyme encoded by IB adds the B
carbohydrate; the enzyme encoded by the i allele
adds neither
Figure 11.11
(a) The three alleles for the ABO blood groups and their
carbohydrates
Allele
Carbohydrate
IB
IA
i
none
IAIA or IAi
IBIB or IBi
IAIB
ii
AB
Phenotype
(blood group)
51
Pleiotropy
Most genes have multiple phenotypic effects, a
property called pleiotropy.
For example, pleiotropic alleles are responsible for
the multiple symptoms of certain hereditary diseases,
such as cystic fibrosis () and sicklecell disease.
Epistasis ()
In epistasis, a gene at one locus alters the
phenotypic expression of a gene at a second locus
For example, in Labrador retrievers and many other
mammals, coat color depends on two genes.
One gene determines the pigment color (with alleles B
for black and b for brown).
The other gene (with alleles C for color and c for no
color) determines whether the pigment will be
deposited in the hair.
Figure 11.12
BbEe
BbEe
Sperm
bE
BE
Be
be
Eggs
BE
BBEE
BbEE
BBEe
BbEe
BbEE
bbEE
BbEe
bbEe
BBEe
BbEe
BBee
Bbee
BbEe
bbEe
Bbee
bbee
bE
Be
be
: 4
54
Polygenic Inheritance
Quantitative characters are those that vary in the
population along a continuum
Quantitative variation usually indicates polygenic
inheritance, an additive effect of two or more genes
on a single phenotype
Skin color in humans is an example of polygenic
inheritance
Figure 11.13
AaBbCc
AaBbCc
Sperm
1
1
1
1
1
Eggs
1
1
1
1
8
8
8
8
8
8
8
8
Phenotypes:
Number of
dark-skin alleles:
64
64
15
64
20
64
15
64
64
64
56
64
Pedigree Analysis
A pedigree is a family tree that describes the
interrelationships of parents and children across
generations.
Inheritance patterns of particular traits can be traced
and described using pedigrees.
Pedigrees can also be used to make predictions
about future offspring.
Figure 11.14
Key
Male
Female
1st generation
(grandparents)
Affected
male
Affected
female
Mating
Offspring, in
birth order
(first-born on left)
Ff
Ww
ww
2nd generation
(parents,
aunts, and
uncles)
Ww ww ww Ww
ww
Widows peak
ff
Ff
Ww
Ww
ww
FF or ff
Ff
3rd generation
(two sisters)
WW
or
Ww
Ff
ww
No widows peak
Attached
earlobe
ff
Ff
Ff
ff
FF
or
Ff
ff
Free
earlobe
60
Figure 11.14a
Key
Male
Female
1st generation
(grandparents)
2nd generation
(parents, aunts,
and uncles)
Affected
male
Mating
Offspring, in
birth order
(first-born on left)
Affected
female
Ww
ww
Ww ww ww Ww
ww
Ww
Ww
ww
3rd generation
(two sisters)
WW
or
Ww
Widows peak
ww
No widows peak
61
Figure 11.14b
Key
Male
Female
Affected
male
Offspring, in
birth order
(first-born on left)
Affected
female
1st generation
(grandparents)
2nd generation
(parents, aunts,
and uncles)
Mating
Ff
FF or
Ff
ff
Ff
ff
ff
Ff
Ff
Ff
ff
ff
FF
or
Ff
3rd generation
(two sisters)
Attached earlobe
Free earlobe
62
Figure 11.15
Parents
Normal
Normal
Aa
Aa
Sperm
A
AA
Normal
Aa
Normal
(carrier)
Aa
Normal
(carrier)
aa
Albino
Eggs
65
Cystic Fibrosis
Cystic fibrosis is the most common lethal genetic
disease in the United States,striking one out of every
2,500 people of European descent
The cystic fibrosis allele results in defective or
absent chloride transport channels in plasma
membranes leading to a buildup of chloride ions
outside the cell
Figure 11.16
Parents
Dwarf
Dd
Normal
dd
Sperm
Dd
Dwarf
dd
Normal
Dd
Dwarf
dd
Normal
Eggs
71
Multifactorial Disorders
Many diseases, such as heart disease, diabetes,
alcoholism, mental illnesses, and cancer, have both
genetic and environmental components.
Lifestyle has a tremendous effect on phenotype for
cardiovascular health and other multifactorial
characters.
Ayo NUTN website:
http://myweb.nutn.edu.tw/~hycheng/
2013 Biology
75