ANSWERS 1 (52 Marks) IB Standard and Higher level Biology !

l"i#h $ollege Shanghai %o&i# ' (S() and 1) (H()* +eneti#s ',1 4.1.1 4.1.2 4.1.3 4.1.4 $hro-oso-es. genes. alleles and -!tations (S() State that eukaryote chromosomes are made of DNA and proteins. Define gene, allele and genome. Define gene mutation. E plain the conse!uences of a "ase su"stitution mutation in relation to the processes of transcription and translation, using the e ample of sickle#cell anaemia. Meiosis (S() State that meiosis is a reducti$e di$ision of a diploid nucleus to form a haploid nuclei. Define homologous chromosomes. %utline the process of meiosis, including pairing of homologous chromosomes and crossing o$er, follo&ed "y t&o di$isions, &hich results in four haploid cells. E plain that non#dis'unction can lead to changes in chromosomes num"er, illustrated "y references to Do&n syndrome (trisomy 21). State that, in karyotyping, chromosomes are arranged in pairs according to their si+e and structure. State that karyotyping is performed using cells collected "y chorionic $illus sampling or amniocentesis, for pre#natal diagnosis of chromosome a"normalities. Analyse a human karyotype to determine gender and &hether non#dis'unction has occurred.

',2 4.2.1 4.2.2 4.2.3 4.2.4 4.2.* 4.2., 4.2.-

1),1 1..1.1 1..1.2 1..1.3

Meiosis (H() Descri"e the "eha$iour of the chromosomes in the phases of meiosis. Descri"e the "eha$iour of the chromosomes in the phases of meiosis. E plain ho& meiosis results in an effecti$ely infinite genetic $ariety in gametes through crossing o$er in prophase 1 and random orientation in metaphase 1. 1..1.4 State /endel0s la& of independent assortment. 1..1.* E plain the relationship "et&een /endel0s la& of independent assortment and meiosis ',/ 4.3.1 4.3.2 4.3.3 4.3.4 4.3.* 4.3., 4.3.4.3.5 4.3.6 %heoreti#al +eneti#s (S() Define genotype, phenotype, dominant allele, recessi$e allele, codominant alleles, locus, homologous, hetero+ygous, carrier and test cross. Determine the genotypes and phenotypes of the offspring of a monohy"rid cross using a 1unnett grid. State that some genes ha$e more than t&o alleles (multiple alleles). Descri"e A2% "lood groups as an e ample of codominance and multiple alleles. E plain ho& the se chromosomes control gender "y referring to the inheritance of 3 and 4 chromosomes in humans. State that some genes are present on the 3#chromosome and a"sent from the shorter 4 chromosome in humans. Define se linkage. Descri"e the inheritance of colour "lindness and haemophilia as e amples of se linkage. State that a human female can "e homo+ygous or hetero+ygous &ith respect to se # linked genes.

4.3.1. E plain that female carriers are hetero+ygous for 3#linked recessi$e alleles. 4.3.11 1redict the genotypic and phenotypic ratios of offspring of monohy"rid crosses in$ol$ing any of the a"o$e patterns of inheritance. 4.3.12 Deduce the geneotypes and phenotypes of indi$iduals in pedigree charts. 1),2 ihy0rid $rosses and +ene (inkage (H() 1..2.1 7alculate and predict the genotypic and phenotypic ratio of offspring of dihy"rid crosses in$ol$ing unlinked autosomal genes 1..2.2 Distinguish "et&een autosomes and se chromosomes 1..2.3 E plain ho& crossing o$er "et&een non#sister chromatids of a homologous pair in prophase 8 can result in an e change of alleles. 1..2.4 Define linkage group 1..2.* E plain an e ample of a cross "et&een t&o linked genes. Alleles are usually sho&n side "y side in dihy"rid crosses, for e ample 9t2". 8n representing crosses in$ol$ing linkage, it is more common to sho& them as $ertical pairs for e ample:

1..2., 8dentify &hich of the offspring are recom"inants in a dihy"rid cross in$ol$ing linked genes.

1),/ 1olygeni# Inheritan#e 1..3.1 Define polygenic inheritance 1..3.2 E plain that polygenic inheritance can contri"ute to continuous $ariation using t&o e amples, one of &hich must "e human skin colour

',' 4.4.1 4.4.2 4.4.3 4.4.4 4.4.* 4.4., 4.4.4.4.5 4.4.6 4.4.1. 4.4.11 4.4.12 4.4.13

+eneti# Engineering and Biote#hnology (S() %utline the use of polymerase chain reaction (17;) to copy and amplify minute !uantities of DNA. State that, in gel electrophoresis, fragments of DNA mo$e in an electric field and are separated according to their si+e. State that gel electrophoresis of DNA is used in DNA profiling. Descri"e the application of DNA profiling to determine paternity and also in forensic in$estigations. Analyse DNA profiles to dra& conclusions a"out paternity or forensic in$estigations. %utline three outcomes of the se!uencing of the complete human genome. State that, &hen genes are transferred "et&een species, the amino acid se!uence of polypeptides translated from them is unchanged "ecause the genetic code is uni$ersal. %utline a "asic techni!ue used for gene transfer in$ol$ing plasmids, a host cell ("acterium, yeast or other cell), restriction en+ymes (endonucleases) and DNA ligase. State t&o e amples of the current uses of genetically modified crops or animals. Discuss the potential "enefits and possi"le harmful effects of one e ample of genetic modification. Define clone. %utline a techni!ue for cloning using differentiated animal cells. Discuss the ethical issues of therapeutic cloning in humans.

1a&er 1 M!lti&le $hoi#e (1) Marks) 1, <hich en+ymes are needed to produce recom"inant plasmids that are used in gene transfer= A. DNA polymerase and ligase 2. DNA polymerase and restriction en+ymes 7. ;estriction en+ymes and ligase D. >elicase and restriction en+ymes 2, <hich response descri"es the "eha$iour of chromosomes in metaphase 8 and anaphase 88 of meiosis= Meta&hase I Ana&hase II A. 7hromosomes line up at the e!uator Separation of homologous chromosomes 2. 9etrads ("i$alents) line up at the e!uator Separation of homologous chromosomes 7. 7hromosomes line up at the e!uator Separation of sister chromatids D. 9etrads ("i$alents) line up at the e!uator Separation of sister chromatids 8n garden peas, the pairs of alleles coding for seed shape and seed colour are unlinked. 9he allele for smooth seeds (S) is dominant o$er the allele for &rinkled seeds (s). 9he allele for yello& seeds (4) is dominant o$er the allele for green seeds (y). 8f a plant of genotype Ssyy is crossed &ith a plant of genotype ss4y, &hich offspring are recom"inants= A. Ss4y and Ssyy 2. Ss4y and ss4y 7. Ss4y and ssyy D. Ssyy and ss4y <hat constitutes a linkage group= A. ?enes carried on the same chromosome 2. ?enes &hose loci are on different autosomes 7. ?enes controlling a polygenic characteristic D. Alleles for the inheritance of A2% "lood groups A cell &ith a diploid num"er of 12 chromosomes undergoes meiosis. <hat &ill "e the product at the end of meiosis= A. 2 cells each &ith 12 chromosomes 2. 4 cells each &ith , chromosomes 7. 2 cells each &ith , chromosomes D. 4 cells each &ith 12 chromosomes <hich process results in the greatest genetic $ariation in a population= A. /eiosis 2. /itosis 7. 7ytokinesis D. Natural selection

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5,

2,

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9he follo&ing is a DNA gel. 9he results are from a single pro"e sho&ing a DNA profile for a man, a &oman and their four children.
mother child 2 father child 4 child 1 child 3

origin I. II. III. IV.

@Source: 9he 2iology 1ro'ect, Ani$ersity of Ari+onaB <hich fragment of DNA is the smallest= A. 8 2. 88 7. 888 D. 8C 4, 9he follo&ing is a DNA gel. 9he results are from a single pro"e sho&ing a DNA profile for a man, a &oman and their four children.
mother child 2 father child 4 child 1 child 3

1 2 3 4 5 6

origin I. II. III. IV.

<hich child is least likely to "e the "iological offspring of the father= A. 7hild 1 2. 7hild 2 7. 7hild 3 D. 7hild 4

1 2 3 4 5 6

5,

A parent organism of unkno&n genotype is mated in a test cross. >alf of the offspring ha$e the same phenotype as the parent. <hat can "e concluded from this result= A. 9he parent is hetero+ygous for the trait. 2. 9he trait "eing inherited is polygenic. 7. 9he parent is homo+ygous dominant for the trait. D. 9he parent is homo+ygous recessi$e for the trait.

1),

9he allele for red flo&er colour (;) in a certain plant is co#dominant &ith the allele for &hite flo&ers (;0). 9hus a plant &ith the genotype ;;0 has pink flo&ers. 9all (D) is dominant to d&arf (d). <hat &ould "e the e pected phenotypic ratio from a cross of ;;0dd plants &ith ;0;0Dd plants= A. 6:3:3:1 2. *.D pink *.D &hite, and all tall 7. 1:1:1:1, in &hich *.D are tall, *.D d&arf, *.D pink and *.D &hite D. 3:1

1a&er 2 Se#tion A ata Analysis (2 -arks) 1, 1olygalacturonase (1?) plays an important role in fruit softening "y making the pectin of the cell &all more solu"le. 8t is synthesi+ed only &hen the fruit is ripe. 8n order to slo& do&n the ripening of tomatoes (Eycopersicon esculentum), antisense ;NA technology &as used. /essenger ;NA from untransformed and transformed fruit &as hy"ridi+ed to a radioacti$ely la"elled pro"e specific to the 1? sense strand. 9he results of a gel electrophoresis of m;NA are gi$en "elo&. (9he si+e of the m;NA strands is e pressed in kilo"ases, k".) 9he histogram sho&s these results e pressed as the percentage of 1? m;NA in ripe untransformed fruit. Eane Eane Eane Eane 1: 2: 3: 4: ;ipe untransformed fruit Anripe untransformed fruit ;ipe transformed fruit Anripe transformed fruit

Lane 2 3

! / 1.77 e z i S

0.28

100 o i t t "0 + e r f ) i 80 t d a e l e m r r 70 (o f 60 ', a 50 & n t mr n % + 40 $ e * 30 #i r 20 10 0

@Source: Smith et al., Nature, (1655), //', pages -24F-2,B (a) State the percentage of 1? m;NA in ripe transformed fruit. , (G 2) (D)H

Lane

(1)

(")

7ompare the results o"tained for ripe and unripe fruit. only ripe transcri"e 1? m;NA (1) I ripe tomatoes produce more 1? m;NA than unripeH "and at 1.-- k" only in ripe (1)H Asing the information pro$ided, e plain ho& the antisense technology affects transformed fruit. no effect on unripe fruitH "and at 1.-- k" much smaller in transformed I less 1? m;NA produced in transformed ripe fruitH antisense m;NA com"ines &ith sense m;NA (1)H inacti$ating the translation (1) I less translationH less 1? (1) to solu"ili+e pectin of &allH fruit takes longer to ripenH

(2)

(c)

(3)

1a&er 2 Se#tion A Short Str!#t!red (14 Marks) 1, (a) Define se linkage. gene I allele I trait on a se (#determining, 3 or 4) chromosome (") State one e ample of se linkage. e amples include: Ja"ry0s disease I >unter0s syndrome I Eesch#Nyhan syndrome I haemophilia I forms of colour "lindness I /enkes0 steely#hair syndrome I AED (adrenoleukodystrophy) ;enpennings syndrome I Duchenne muscular dystrophy I ?#,#1 dehydrogenase I testicular determining factor (9DJ on 4#chromosome) I calico#tortoiseshell cat fur colour I &hite eye DrosophilaH

(1)

(1)

(c)

Dra& a simple pedigree chart that clearly sho&s se linkage in humans. Ase con$entional sym"ols. Start &ith an a66e#ted "o-an and an !na66e#ted -an. (4) affected &oman and unaffected man in first generation dra&n correctly (1)H nd all sons in the 2 generation affected (1)H nd all daughters 2 generation unaffected (1)H rd at least one son ("ut no daughter in 3 generation unless father &as affected) of a carrier nd daughter (in 2 generation) must "e affectedH dra&ing of pedigree chart (2 generations) &ith correct sym"ols and connecting linesH (1) e ample:

2,

9he follo&ing diagram represents a t&o generation pedigree sho&ing the "lood groups of the indi$iduals. 9he female has "een married to t&o different indi$iduals.

(.

1,t generation 1 . 2nd generation 1

(a)

Key 2 ( 3 (. /ale 0emale

4
(1)

Define the term co#dominant alleles. alleles o6 gene 7 &airs o6 alleles "hi#h 0oth a66e#t the &henoty&e 7 0oth e8&ressed ("hen &resent together in an individ!al 7 in the hetero9ygote): Re;e#t* 0oth do-inant 7 0oth re#essive Deduce &ith a reason the pro"a"le father of 2nd generationF1. 1st generationF3 I father 3H father 1 can only donate an % allele I 2 allele cannot come from % parentH 8f 2nd generationF3 marries a man &ith "lood group A2, predict the possi"le genotypes of the children. A A 8 8 I AAH (1) A 2 8 8 I A2H (1) A % 2 % A 2 8 8 and 8 8 I A% and 2% (1) I 8 i and 8 iH

(")

(2)

(c)

(3)

A&ard marks for correct ans&ers then deduct <1= for each incorrect genotype, eg including genotypes &ith only one allele. /inimum mark <)=. Do not accept phenotypes instead of genotypes.
/, (a) Define the term degenerate as it relates to the genetic code. more than one codon I "ase triplet codes for an amino acid (1)

(")

Apart from international cooperation, outline t"o positi$e outcomes of the >uman ?enome 1ro'ect. (2) may lead to an understanding of genetic I inherited diseases I conditionsH may lead to the production of gene pro"es to detect carriers of genetic diseasesH may lead to the production of pharmaceuticals "ased on DNA se!uencesH study of similarities I differences "et&een human race I populationH find location of genes I produce a complete gene mapH study of human origins I migration I relationships &ith other species State the catalytic acti$ity of re$erse transcriptase. re$erse transcriptase cataly+es the production of DNA from ;NA (1)

(c)

(d)

State one use of monoclonal anti"odies in diagnosis and one use in treatment. A&ard <1 -a8= for use in diagnosis and <1 -a8= for use in treatment. diagnosis: detection of (anti"odies to) >8CH detection of >7? I pregnancy test kitsH detection of cardiac en+yme in suspected heart attacksH detection of tissue I "lood typeH testing for (different strains of) malariaH EE8SA testH

(2)

treatment: targeting cancer cells &ith attached drugsH treatment of ra"ies I E"ola I lymphoma destroying 9#cells to reduce re'ection of transplantsH
Se#tion B E8tended Res&onse (14 Marks) 1, Descri"e, &ith the aid of a diagram, the "eha$iour of chromosomes in the different phases of meiosis. chromosomes condense I coil I "ecome shorter and fatter during prophase 8H (1) (homologous) chromosomes pair up in prophase 8H (1) crossing o$er I chiasmata formation in prophase 8H (1) mo$ement of pairs of chromosomes I "i$alents to the e!uator in metaphase 8H (1) mo$ement of half of the chromosomes to each pole in anaphase 8H mo$ement of chromatids to opposite poles in anaphase 88H (1) decondensation I uncoiling in telophase 88H <' -a8= if no diagram is sho&n. Do not a&ard a mark for a statement if a diagram has "een dra&n that does not fit in &ith the statement. Jor e ample, if the candidate states that pairs of chromosomes mo$e to the e!uator in metaphase 8 "ut sho&s single chromosomes, do not a&ard that mark. 2, E plain ho& meiosis and fertili+ation can gi$e rise to genetic $ariety. random orientationI independent assortment (1) of "i$alents I pairs of chromosomesH maternal and paternal chromosome could go to either poleH n 2 com"inationsH eg o$er 5 million in humansH crossing o$erH (1) e change of material (1) "et&een homologous chromosomes I non#sister chromatidsH segregationI splitting of alleles in meiosisH splitting of homologous pairs com"inations of alleles are "roken upH (,)

(*)

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fertili+ation "rings together genes (1) I alleles from t&o different parentsH fertili+ation generates ne& com"inations of genes (1)I allelesH random fertili+ation (1)I many possi"le com"inations of male and female gameteH eg o$er ,4 million million in humans (ignoring crossing o$er)H Descri"e the conse!uence of a "ase su"stitution mutation &ith regards to sickle cell anaemia. mutation is a change in DNA se!uence (1)H changes the m;NA during transcriptionH changes the amino acid se!uence (1)H su"stitution mutation I changes to one codon (1)H glutamic acid is changed to $aline (1) I ?A? to ?9?H changes the shape of hemoglo"in I hemoglo"in "ecomes less solu"le (1) cannot carry o ygen (1) as &ellH red "lood cells sickle I impairs "lood flo&H causes other health pro"lems I anaemia (1)I tirednessH sickle cell anemia caused "y t&o mutated recessi$e allelesH DNA se!uence amino acid se!uence protein characteristics determines phenotype (e plain the phenotype)

(-)