1 (a) the allele that is expressed (if it is present) / AW; I ‘powerful’

always seen in the phenotype; defines the phenotype

masks (effect of) recessive allele; max 1 defines characteristic(s)

(b) (i) Parent genotype: Ff , Ff;

Parent phenotype: (with) flecks × (with) flecks; ECF on incorrect key usage
Gametes: F , f, F , f; ECF from each line
Working shown to derive genotype; A Punnett square / criss-cross lines
Offspring genotype: FF , Ff , ff; linked to correct phenotype 5

(ii) ff × ff; A Ff × Ff and Ff × ff

ECF on incorrect key usage from (i)
parents may be implied as first part of the question asks for parental
genotype

both parents must have a recessive allele / A gene for allele

(if ff × ff) no dominant or F allele, in either parent /

(if ff × ff) both parents must be homozygous, recessive / without flecks

no parent must be homozygous dominant /

presence of (even) one dominant allele in parents could result in flecks; 2

[Total: 8]

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2 (a (i)
genetic term example used in the passage

an allele HbN / HbS; A N / S, R NS and N × S

a heterozygous HbNHbS;
genotype A NS

a homozygous HbS HbS;

genotype A SS

phenotype
henotyp / extreme pain / sickle cell anaemia
/ mild symptoms; A the disease
4

(ii) malaria, is severe disease / may be fatal;

idea that it is the selective agent / ref to (natural) selection; A reference to selective advantage for MP2
R immune for resistance (but ECF after first time)
people with sickle cell anaemia / HbS are resistant to malaria;

HbNHbN / homozygous dominant, susceptible to malaria;

HbNHbN more likely to die (of malaria) before have children (to pass
on genes);
A carrier for sickle cell trait
HbN HbS / sickle cell carriers, do not die from sickle cell anaemia;

HbN HbS / sickle cell carriers, have children (and pass on genes);

and pass on the (Hbs) allele;

description of sickle cells are less prone to infection; AVPs:

2 in 4 / ½ , have advantage of resistance to malaria;
idea that no advantage of HbS in areas where no malaria; (if HbN HbS × HbN HbS ) 1 in 4 chance of, HbS HbS /
AVP; max 5 homozygous recessive;

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2 (b) (chromosome) mutation; A trisomy 21
an extra chromosome; R more than one chromosome
non-disjunction / failure during meiosis / translocation; max 1 I older mothers, inherited

(c) discontinuous variation – influenced by genes alone; ORA assume answer is about discontinuous unless stated
otherwise
discontinuous variation – no effect of the environment / does not continuous variation influenced by gene and
change over (life)time; ORA environment = 2 marks (MP1 and MP2)

discontinuous variation, is discrete / has no intermediates / is A continuous is measurable

qualitative / AW; ORA

limited number of phenotypes;

max 3

[Total: 13]

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 Answers Marks Guidance for Examiners

3 (a) 1 (red blood cells) get stuck in capillaries / do not flow smoothly / ignore less haemoglobin
capillaries blocked;
2 reduce , supply of, oxygen / nutrients ( to tissues / cells / muscles) ; A carries less oxygen / nutrients…
3 reduce , removal of, carbon dioxide / wastes, (from tissues / cells / A carries less carbon dioxide…
muscles) ;
4 ref to respiration (in tissues) ;
5 cause sickle cell crises ;
6 pain ;
7 increased chance of, thrombosis / blood clotting ;
8 death of tissues / cells ;
9 AVP ; [max 4] I reduced life expectancy

(b) (i) allele(s) ; [1

(ii) HA , HS + HA , HS ; Could be in Punnett square

A just A and S
(HAHA , HAHS , HAHS) HSHS ; [2] A just S and S

(iii) 0.25 / 25 % / ¼ / 1 in 4 ; [1 I ratios

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 Answers Marks Guidance for Examiners

3 (c) (i) 1 malaria, is severe disease / may be fatal ; A sickle cell trait / carrier for HSHA throughout the
2 idea that it is the selective agent / ref to natural selection ; answer
3 HAHA / homozygous dominant, susceptible to malaria ;
4 HAHS / heterozygous, resistant ; A HSHS resistant ;
5 HAHS survive / HAHA more likely to die before have children ; R immune
6 HAHS have children and pass on, the allele / HS ;
7 (if HAHS x HAHS) 1 in 4 chance of, HSHS / homozygous recessive ;
8 2 in 4 / ½ , have advantage of resistance to malaria ;
9 AVP ; e.g. ref to malarial parasite /
10 AVP ; e.g. ref to transmission of malaria [max 4]

(ii)
1 malaria not very serious / not a severe strain of malaria ;
2 people have other genetic protection from malaria ;
E.g. Thalassemia
3 malaria has only recently spread to these areas / no malaria
before;

4 mutation not occurred in populations of these areas ;

5 people with mutation / have sickle cell allele , have not
migrated here ; A mutation described I gene, for allele

6 (majority of) population in Australia has not lived there for long ;
7 came from areas where no malaria, is / was, present ;

8 AVP ;
9 AVP ;
[max 2]

[Total:14]

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Question
uestion E answers Mark Additional Guidance

4 (a halves the number of chromosomes / diploid to haploid ; accept produces haploid, nuclei / cells /
ignore halves the genetic material gametes
ignore prevents doubling of chromosome
number
produces variation / AW ; [2]

(b) (i) question is discounted [2]

(ii) 1 (only) one fertilisation / one zygote / one fertilised egg ; R ‘from a single cell’ but allow ecf for other
MPs
2 zygote / fertilised egg / (cells in) embryo, divides / splits in two ; R egg divides

3 by mitosis ;

4 into two (groups of) genetically identical cells ; A same , genetic material / genetic make-
up / genome
[2] R similar

(c) increase in, complexity / AW ;

ref to specialisation / differentiation ; ignore (rapid) growth / change in shape
ref to different types of cells ;
ref to, tissues / organs ; A ‘legs / arms / AW, start to grow’
[max 2]
h
(d) 1.. Y;
H
2.. Xh ; do not accept male genotypes for MP2
H H
3.. X ; and MP3
[3]

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Question
uestion E answers Mark Additional Guidance

4 (e) 1 mutation / change in DNA ; MP2 can only be awarded if MP1 is

2 in the gene, for blood clotting protein / on X chromosome ; awarded

3 in the mother / mother is a carrier / mother is heterozygous ; MP3 A in context of allele passing down the
R parent(s) is / are heterozygous female line for several / many generations
(without being expressed in a male)

4 haemophilia is sex linked / shows sex linkage ; ignore carried on the X chromosome as this
is in the question
5 idea that the mother’s egg with the mutant allele fuses with a Y
bearing sperm ;

6 e.g. cause of mutation ; ionising radiation / chemical(s)

[max 2]

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