H2 Biology

Core Idea 2: GENETICS & INHERITANCE

Genetic basis for Variation I

Question 1 - J97P3Q6 (monohybrid cross; mutation; sickle cell anaemia)

(a) On Fig. 6.1, indicate the separation of the haemoglobin from an individual who is heterozygous for the
sickle cell allele (HbAHbS). [1]
(b) Probability ………………… ¼
Parental genotype HbAHbS x HbAHbS
Meiosis
Gametes HbA HbS HbA HbS

Gametes

HbA HbS

HbA HbAHbA HbAHbS

Normal Normal
gametes

HbS HbAHbS HbSHbS

Normal Sickle cell anaemia

Offspring phenotype Normal : Sickle cell anaemia

Phenotypic ratio 3 : 1
Phenotypic frequency ¾ : ¼
(c) Suggest why, and under what conditions, the red blood cells become sickle-shaped. [3]
1. People with sickle cell disease have red blood cells that contain mostly haemoglobin* S, an abnormal
type of haemoglobin;
2. Red blood cells change shape upon deoxygenation because of polymerization of the abnormal sickle
haemoglobin; the haemoglobin proteins stick to each other;
3. causing the cell to get a rigid surface and sickle shape;
(d) Explain briefly how the mutation which produces sickle cell anaemia may occur. [3]
1. Ionising radiation or UV may have induced a single substitution mutation in the code for glutamic acid;
2. Triplet codon is changed from CTT to CAT; thymine in 2nd base is replaced by adenine;
3. thus valine is coded instead;
4. when the gene coding for normal haemoglobin is mutated, it produced a dysfunctional protein;
Note:
The gene defect is a known mutation of a single nucleotide (A to T) of the β-globin gene, which results in glutamate

Last update by: Mr Low CM, Mr D Tan, Mdm S Cross and Mrs Yeo YT 1
 Question 2 - N01P3Q4
(a) Using the symbols R for red fruit and r for yellow fruit, SH for hairy stem and SL for hairless stem, state the
genotype and the phenotype of the parent plant. [2]
Note: For fruit colour
red Yellow
74 26
3 1
This is only possible if both parents are heterozygotes.
For hairy stems
Very hairy Scattered hairs Hairless
25 50 25
1 2 1
This is only possible if both parents are heterozyotes.
Parental genotype RrSHSL [1]
Parental phenotype Red, scattered hairs [1]
(b) Draw a genetic diagram to explain this cross. [5]
Parental
Red fruit, scattered hairs on stem X Red fruit, scattered hairs on stem
phenotype

Parental genotype RrSHSL X RrSHSL [1]

rSH rSL RSH RSL rSH rSL [1]

Gametes RSH RSL

RSH RSL rSH rSL

RRSHSH RRSHSL RrSHSH RrSHSL

Red fruit, Red fruit,
RSH Red fruit, very
scattered hairs on
Red fruit, very
scattered hairs on
hairy on stem hairy on stem
stem stem
RRSHSL RRSLSL RrSHSL RrSLSL
Red fruit, Red fruit,
RSL scattered hairs on
Red fruit, hairless
scattered hairs on
Red fruit, hairless
on stem on stem
stem stem
RrSHSH RrSHSL rrSHSH rrSHSL
rSH Red fruit, Yellow fruit,
Red fruit, very Yellow fruit, very
scattered hairs on scattered hairs on
hairy on stem hairy on stem
stem stem
RrSHSL RrSLSL rrSHSL rrSLSL
rSL Red fruit, Yellow fruit,
Red fruit, hairless Yellow fruit,
scattered hairs on scattered hairs on
on stem hairless on stem
stem stem

Offspring R_SHSH R_SHSL R_SLSL rr SHSL rrSHSH rrSLSL

genotype
Offspring Red fruit; very Red fruit; Red fruit; Yellow fruit; Yellow fruit; Yellow fruit;
phenotype hairy scattered hairs hairless scattered hairs very hairy hairless
Phenotypic ratio 3 6 3 2 1 1
18 37 19 13 7 6
[1] correct offspring genotypes in Punnett square
[1] relate genotype to phenotype
[1] correct phenotypic ratio

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Question 3 - J04P4Q5 (sex linkage; codominance)
(a)
Orange male × black female black male × orange female

Cross 1
Parental phenotype orange male x black female
Parental genotype XOY x XBXB
[1] for parental phenotype linked to genotype
Gametes
X O Y XB
Fertilisation

Gametes
XB

Gametes XO XB XO
Tortiseshell
female
XB Y
Y
Black male

Offspring genotype XB XO XB Y
Offspring phenotype Tortoiseshell female Black male
Phenotypic ratio 1 : 1
[1] for offspring phenotype and genotype (must also have either gametes / construction lines / punnet square)

Cross 2 (reciprocal cross)

Parental phenotype black male x orange female
Parental genotype XBY x XOXO
[1] for parental phenotype linked to genotype

Gametes XB Y XO XO

Fertilisation

Gametes
XO

Gametes XB XB XO
Tortiseshell female
XO Y
Y
Orange male

Genotype of offspring XB XO XO Y
Phenotype of offspring Tortoiseshell female orange male
Phenotypic ratio 1 : 1
[1] for offspring phenotype and genotype (must also have either gametes / construction lines / punnet square)
(b) List the genotypes and their phenotypes of the offspring that may result from mating a tortoiseshell female
with a black male. [4]
Genotype of offspring XOXB XBXB XOY XBY
Phenotype of offspring Tortiseshell Black Orange Black
female female male male
[1] for each offspring with phenotype linked to correct genotype
If phenotypes and genotypes not linked max 2
penalize once for lack of gender

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(c) Suggest an explanation for the tortoiseshell coat in terms of the activity of the X chromosomes. [1]
X-inactivation* is random at early development, it will produce a mosaic of the black and orange coat to
give tortoiseshell coat seen in female;

Question 4 - J06/P6/Opt4/Q3 (lethal alleles, linked genes)

(a) Some alleles are lethal when homozygous causing the organism to die.
(i) Suggest why plants with the homozygous genotypes AA-- and --bb die. [2]
1. no chlorophyll is produced if genotypes are AA_ _ or _ _ bb;
2. thus the plants cannot photosynthesize;
3. no, primary pigment / reaction centre / photosystem thus no ATP and NADPH2 is produced to be used for
Calvin cycle;
4. results in no glucose produce thus no respiratory substrate for growth and survival.
(ii) A plant with the genotype AaBb was self-pollinated.
genotypes of viable offspring phenotypes genotypes of viable offspring phenotypes
of viable offspring of viable offspring
AaBB yellow aaBB green
AaBb yellow aaBb green
half marks rounded up 2
(b) Genes A/a and B/b are linked on the same pair of homologous chromosomes, as shown in Fig. 3.1.
With reference to Fig. 3.1
(i) draw a diagram to show the effect of crossing-over between the homologous chromosomes, [2]
A B A B
A A b
b

a B a B
a b a b
(b) (i) clear diagram showing:
cross over in between two loci of non-sister chromatids giving Ab and aB;
other chromatids unchanged; 2
(ii) state the effect of linkage and crossing-over on the proportions of gametes with different genotypes that
are produced. [2]
1. When the genes are linked, there are large number/proportion of parental types of genotype AB and ab;
2. smaller number of, recombinant types of genotypes Ab and aB;
3. The further the two loci are on the chromosome, the higher the chance of crossing over thus there will be
more recombinants/ ora; max 2

Question 5 – N09P2Q4 (linkage)

(a) Define the term locus. [2]
1. Locus is the position of a gene on a chromosome
2. Alleles, which are alternative forms of a gene, occupy the same locus
3. Different genes occupy different loci
(b) Complete Table 4.1 to show the expected numbers of flies with each phenotype, assuming there is no linkage.
[2]
Phenotype observed number (O) expected number if no linkage (E)
red eye, normal wing 1139 660
purple eye, vestigial wing 1195 660
red eye, vestigial wing 151 660
purple eye, normal wing 155 660
Total 2640 2640
(c) State the meaning of the term linkage in this context. [1]
Linked genes are found on the same chromosome.

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(d) Draw a genetic diagram to explain the observed results of this test cross. [5]
Use the following symbols,
R red eye; r purple eye; N normal wing; n vestigial wing.

Parental Red eye, Purple eye,

phenotype Normal wing Vestigial wing

R r r r
Parental
genotype
[1] X

N n n n

R r R r r
gametes [2]

N n n N n

R r r r R r r r [2] for correct

F1 genotype genotypes
linked to
N n n n n n N n phenotypes
Red eye, Purple eye, Red eye, Purple eye,
F1 phenotypes
Normal wing vestigial wing vestigial wing Normal wing
1139 1195 151 155

(e) Suggest how similar breeding experiments with many different pairs of characters could be used to map the
position of genes on the chromosomes of fruit flies. [3]
1. Examine the percentage of recombinants/cross over value, where the percentage of recombinants/crossover
value reflect distance between the pair of traits
Or
Recombinant frequency = total number of recombinant offsprings X 100%
total number of offsprings
2. The greater the percentage of recombinants/crossover value, the greater the distance between genes (greater
chance of crossover)
3. Distance between linked genes is expressed in map units* (or centiMorgan (cM)), where 1 map unit is
equivalent to 1% recombinant frequency
4. If expected phenotypic ratio is obtained such as 1 : 1 : 1 : 1 when a double heterozygotes is test crossed, then
there is no linkage.
Note: crossover value (COV) can be calculated by the percentage of offspring that show recombination

Question 6 - N13P2Q5 (ABO blood types and Rhesus factor)

(a) Suggest why the IA and IB alleles are dominant over the i allele. [3]
A B
1) The expression of dominant I or I allele masks effect of recessive i allele;
2) The recessive allele i does not lead any production of antigens / glycoproteins
A B
3) The presence of I or I allele leads to production of A antigens/glycoproteins or B antigens/glycoproteins
respectively on surface of red blood cells
A B
4) Therefore heterozygous individuals, with I i or I i genotypes, have A antigens or B antigens, respectively,
A B
on their red blood cells. This suggests that I and I alleles are dominant over i allele;
(b) The Rhesis (Rh) factor alleles control another blood typing system and are inherited independently of the
ABO blood type alleles.

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 There are two different alleles for the Rh factor, Rh+ (Rhesus positive) and Rh- (Rhesus negative). Rh+ is
dominant to Rh-.
(i) The ABO blood type gene is located on chromosome nine.
Suggest where the Rhesus (Rh) factor gene may be found. Explain the reason for your answer. [2].
1) Not found on chromosome 9
OR
Found on another chromosome apart from chromosome 9;
2) As the alleles coding for the Rhesus factor are inherited independently, they are not linked to the alleles
of the ABO blood types. Thus, they are not found on the same chromosome;
R: any numbered chromosome other than 9
(ii) A type A Rhesus positive mother and a type B Rhesus positive father have a type O Rhesus negative child.
Draw a genetic diagram in the space below to show how this occurred.
Use the symbols given above and show all possible genotypes and phenotypes for the offspring of these
parents. [5]
Parental phenotype: Type A, Rhesus positive x Type B, Rhesus positive
A + - B + -
Parental genotype: I iRh Rh x I iRh Rh
Correct parental phenotype and genotype [1]
Meiosis

A - + B + B - +
Gametes: IARh+ I Rh iRh iRh- I Rh I Rh iRh iRh-

[1] for correct gametes (must be circled)

Random fusion of gametes:
A
I Rh
+ A
I Rh
-
iRh
+ iRh-

IBiRh Rh IBiRh Rh
B + A B + + A B + - + + + -
I Rh I I Rh Rh I I Rh Rh
AB Rh+ AB Rh+ B Rh+ B Rh+

B - A B + - A B - - B + - B - -
I Rh I I Rh Rh I I Rh Rh I iR Rh I iR Rh
AB Rh+ AB Rh- B Rh+ B Rh-

+ A + + A + - + + +
iRh I i Rh Rh I i Rh Rh ii Rh Rh ii Rh Rh-
A Rh+ A Rh+ O Rh+ O Rh+

iRh- A
I i Rh Rh
+ - A
I i Rh Rh
- -
ii Rh Rh
+ -
ii Rh Rh
- -

A Rh+ A Rh - O Rh+ O Rh-

Offspring A B
I I Rh+_
A B
I I Rh Rh
- - B
I iRh _
+ B
I iRh Rh
- - A
I iRh _
+ A
I iRh Rh
- -
iiRh _
+ -
iiRh Rh
-

genotype

Offspring AB Rh+ AB Rh- B Rh+ B Rh- A Rh+ A Rh- O Rh+ O Rh-

phenotype

Ratio 3 1 3 1 3 1 3 1

1 in 16 chance of the child having a Type O, Rhesus negative phenotype

: Punnett Square [2]
: Correct genotype and corresponding phenotype as well as phenotypic ratio [1]

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 Question 7 - N14P2Q5 (dihybrid inheritance)
(a)
Parental phenotype Red, axial flowers X White, terminal flowers [1]
Parental genotype RRAA X rraa

Gametes RA ra

F1 genotype RrAa [1]

F1 phenotype All red, axial flowers
F1 selfing RrAa x RrAa

Gametes
RA Ra rA ra

RRAA RRAa RrAA RrAa

RA
Red, axial Red, axial Red, axial Red, axial
RRAa RRaa RrAa Rraa
Ra
Red, axial Red, terminal Red, axial Red, terminal

RrAA RrAa rrAA rrAa

rA
Red, axial Red, axial white, axial white, axial
rraa
ra RrAa Rraa rrAa
White,
Red, axial Red, terminal white, axial
terminal
Correct Punnett Square [2]
Offspring genotype R_A_ R_aa rrA_ rraa
Offspring phenotype Red, Red, White, White,
axial flowers terminal flowers axial flowers terminal flowers
Phenotypic ratio 9 3 3 1
[1] relate genotype to phenotype
[1] correct phenotypic ratio of 9:3:3:1
(b) 1. 9: 3: 3: 1 offspring/F2 phenotypic ratio indicates the alleles of each character are found on different
chromosomes and inherited independently of one another;
2. Alleles of different genes assort independently* of each other because homologous pairs of
chromosome align randomly on either side of metaphase plate/ because alignment of each
homologous pair is independent of other homologous pairs;
(c) 1. Allele T codes for a functional enzyme involved in synthesis of gibberellic acid;
2. Allele t codes for the non-functional enzyme;
3. In a heterozygote, allele T masks the phenotypic effect of allele t;
4. Presence of 1 T allele (in homozygous dominant or heterozygous individuals), when expressed is
sufficient to produce functional enzyme that causes plants to grow tall;
(Allele T is dominant over t)
[Total : 10]
Question 8 - N15P2Q5 (Linked genes)
(a) Parental
Black coat, straight hair X White coat, wavy hair
phenotype
Parental genotype BbHh X bbhh

Gametes BH Bh bH bh bh

BH Bh bH bh
BbHh Bbhh bbHh bbhh
bh Black coat Black coat white coat white coat
straight hair wavy hair straight hair wavy hair

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 Offspring BbHh Bbhh bbHh bbhh
genotype
Offspring Black coat Black coat white coat white coat
phenotype straight hair wavy hair straight hair wavy hair
Phenotypic ratio 1 1 1 1
1m for correct parental phenotype and genotype ;
1m for correct gametes which are circled ;
1m for correct offspring genotype and phenotype ;
1m for correct phenotypic ratio ;
(b) Explain why there is a greater number than expected of the parental phenotypes. [3]
1. The genes coding for coat colour and hair texture are linked on same chromosome;
2. Alleles for black coat and straight hair are linked on the same chromosome;
3. Alleles for white coat and wavy hair are linked on the same chromosome;
4. Greater chance for these alleles to be inherited together, thus resulting in greater number;
5. Number of recombinants are smaller because crossing over/recombination is a chance event
and the frequency of recombination is dependent on the distance between the two genes;
(c) Describe how it is possible for progeny with black coats and wavy hair to be produced from these test
crosses. [3]
1. During prophase I of meiosis I, crossing over* occurs between non-sister chromatids of
homologous chromosome*;
2. At chiasma*, portion of chromatid containing allele B break, rejoin to portion of chromatid
containing allele h;
3. Resulting in new linkage group being formed where allele B that codes for black coat, allele h that
codes for wavy hair are linked on same chromosome;
4. Gamete that contained chromosome that contain allele B linked to allele h fuses with gamete that
contain chromosome that contain allele b linked to allele h;
[Total : 10]

Question 9 - ACJC Prelim 2011

(a)
(i) With reference to Table 4.1 above, determine the relative dominance of the alleles B, bM and bS.

B is dominant over bM and bS while bM and bS are co-dominant / equally dominant;

R! “B is dominant” alone without mentioning “bM and bS”
R! B > bM = bS (unacceptable notations/symbols) [1]
(ii) A homozygous Burmese female cat …..
Parental phenotype: Burmese, normal tail x Siamese, short tail
Parental genotype (2n): bMbMTT x bSbStt
Meiosis

Gametes bMT bSt ;

Fertilisation
F1 genotype (2n): bMbSTt
F1 phenotype: All Tonkinese, normal tail

Sibling mating of F1,

F1 phenotype Tonkinese,normal tail x Tonkinese,normal tail
F1 genotype (2n) bMbSTt x bMbSTt ;

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 F1 gametes bMT bMt bST bSt

bMT bMbMTT bMbMTt bMbSTT bMbSTt

Burmese, Burmese, Tonkinese, Tonkinese,
normal normal normal normal

bMt bMbMTt bMbMtt bMbSTt bMbStt

Burmese, Burmese, Tonkinese, Tonkinese,
normal short normal short

bST bMbSTT bMbSTt bSbSTT bSbSTt

Tonkinese, Tonkinese, Siamese, Siamese,
normal normal normal normal

bSt bMbSTt bMbStt bSbSTt bSbStt

Tonkinese, Tonkinese, Siamese, Siamese,
normal short normal short
All correct F2 genotypes and phenotypes with key;
No phenotypes  0m
F2 genotypes: bMbST_ bMbMT_ bSbST_ bMbStt bMbMtt bSbStt
F2 phenotypic ratio:
6 3 3 2 1 1
Tonkinese: Burmese: Siamese: Tonkinese: Burmese: Siamese
normal normal normal short short short
Correct F2 genotypes and phenotypic ratio; [4]
(iii) Suggest how the environment results in the characteristic coat pattern in Siamese cats.
1. Fur should be (by default) black when the mutant enzyme is functional but high temperature
inhibits/denatures mutant tyrosinase;
2. Hence no pigment formed/white in warmer body while pigment forms in cooler extremities; [2]
(b) Tortoiseshell cats …
(i) State the probability of producing a female tortoiseshell kitten, when a female tortoiseshell cat mates with
a black male cat.
0.25 (25% chance / 1 in 4) [1]
(ii) Approximately 1 in 3000 tortoiseshell cats are male. Based on your knowledge of meiosis, suggest how
male tortoiseshell cats may be produced.
1. Ref. to non-disjunction (of sex chromosomes) / (unequal crossing over leading to)
translocation;
2. Resulting in XOXB gametes (in female) or XOY / XBY gametes (in male);
3. Genotype XOXBY in tortoiseshell male cat;
[2]

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Question 10 - N19P2Q6
(a)

Fig. 6.1
(i) Male offspring
Parental phenotype: Fertile female
Parental genotype: AaBb

Gametes: AB Ab aB ab
Offspring genotype: AB, Ab, aB, ab
Offspring phenotype: All fertile males (drone)
(ii) Female offspring
Parental phenotype: Fertile female (queen) X Fertile male (drone)
Parental genotype: AaBb X ab

AB Ab aB ab ab
Gametes:

Offspring genotype: AaBb Aabb aaBb aabb

Offspring phenotype: All female
(b) See Fig. 6.1 – Thinking: One fertile queen bee, one fertile drone. Both must result in homozygous recessive
offspring.
(c) Explain how the environment determines whether fertilised eggs develop into queen bees or worker bees.
1. Diet of larvae determines if it develops into queen bee or worker bee
2. Larvae fed royal jelly*, a protein-rich secretion from young worker bee will develop into a queen bee.
3. Chemicals in royal jelly trigger expression of genes involved in the development of ovaries and
reproductive organs.
4. Larvae fed a nectar and pollen will develop into worker bee.

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