MEMO Semester Test 1 2018

Question 1 [25]

a. Maria: Aa XHXh heterozygous (1) heterozygous (1)

Ben: aa XHY homozygous recessive (1) hemizygous dominant (1)
If alleles not variants of the same letter (-1)
If not superscripts on X (-1)
If dominance not according to convention and not defined (-½)

(b)
MARIA: Metaphase I Metafase I Anaphase II Anafase II

One metacentric pair (½) 2 chromosomes per pole (1)

One acrocentric pair (½) 1 chromatid per centromere (1)
4 chromosomes in 2 bivalents / two pairs (½)
2 sister chromatids per chromosome (½)
Identical alleles on sister chromatids for both loci (1)
(Bivalents can also have other relative orientation)

(c) AXH AXh aXH aXh (4 x ½)

(d)(i) The segregation of the alleles at one locus (1) occurs independently of the segregation of the
alleles at another locus (1) during gamete formation.
OR: Alleles at different loci (1) separate independently of one another (1)
(2)
(ii) The orientation of the chromosome pair with the cystic fibrosis gene on the metaphase I plate /
the separation of these homologs at anaphase I (1) is random and independent of the orientation
/ segregation of the X chromosome with the haemophilia gene (1).
This results in gametes with all possible combination of alleles from these two loci.
(2)
(e) Cystic fibrosis: Aa x aa → ½ Aa : ½ aa
P(cystic fibrosis) = P(aa) = ½ (1)
Haemophilia: XHXh x XHY → ¼ XHXH : ¼ XHXh : ¼ XHY : ¼ XhY
P(no haemophilia) = P(XHXH or XHXh or XHY) = ¾ (1)
P(cystic fibrosis and no haemophilia) = ½ x ¾ = 3/8 (1) for x or 3/8

(or from a Punnett square – correct gametes, correct genotype, 3/8 meet requirements =3)

(f)
• In females one of the two X-chromosomes is inactivated in all somatic cells during early embryonic
development (forms Barr body) (Lyon hypothesis). (1)
• This is a random process that occurs during embryonic development (1).
OR: There are different patterns of X-inactivation in different individuals.
• In females heterozygous for an X-linked locus (1)
• Different individuals can have different phenotypes depending on which allele is expressed in each
cell (1)

OR: specific explanation of this situation (4)

• In Maria with nearly normal clotting by chance mostly Xh alleles were inactivated
• On the two sisters who bruise easily likely equal inactivation of the two alleles occurred
• In the sister with a bleeding tendency mostly the XH alleles were inactivated

(g)(i) XXY or (2 or more X, 1 or more Y) (1)

(ii) mother (1)

anaphase II (1)
Question 2 [12]

2.1
Mitosis Meiosis I
Prophase Chromosomes condense Homologous chromosomes pair (½)
Mitotic spindle forms Crossing over takes place (½)
Nuclear membrane starts to disintegrate
any (1)
Metaphase Individual chromosomes align on Homologous pairs / bivalents / tetrads
metaphase plate (½) align on metaphase plate (½)
Anaphase Sister chromatids separate towards The two chromosomes (still containing
poles two sister chromatids) separate towards
(½) opposite poles
(½)

2.2

Number of chromosomes Number of DNA molecules

G2 of interphase 12 (½) 24 (½)
Metaphase II of meiosis 6 (½) 12 (½)

2.3 (a) The genetic information on the two sister chromosomes comes from the same parent (1)
because the sister chromatids are produced by DNA replication during the S-phase of
interphase and are exact copies of the genetic information originally present on a single
chromosome inherited from one parent (1)

(b) Yes it will be different, as a chromosome during prophase II will have information on the two
sister chromatids from both parents (1)
as a result of crossing over between homologous chromosomes which occurred during meiosis
I. One chromosome of a homologous pair comes from one parent and the other homolog
comes from the other parent. When crossing over takes place, information is exchanged
between nonsister chromatids from homologous chromosomes (1)

2.4 The large cytoplasm normally provided by the oocyte is essential for zygote development. (1)
The presence of at least one X chromosome is required for normal human development, a cell
without an X chromosome / X-linked genes is not viable. (1)
Question 3 [11]

(As Q 3.1(c) was accidentally omitted from final printed version of test, every student gets +2 free)

3.1(a) When two different alleles of a locus are present in a genotype (heterozygote) (½)
only one of the two alleles (the dominant allele) will determined the phenotype (½).
OR: homozygous dominant (AA) and heterozygous (Aa) genotypes show the same (dominant)
phenotype (A_).

(b) Homozygous dominant or heterozygous individuals (genotypes AA or Aa) will have sufficient levels
of the functional enzyme in their cells to produce melanin, and will then have normal skin
pigmentation. (1)
The recessive allele does not encode a functional enzyme, so homozygous recessive individuals
(genotype aa) will not have the enzyme resulting no melanin production and albinism. (1)

(c) Probability is 2/3. (1)

As he shows the normal (dominant) phenotype, and his parents are both carriers, his genotype
could be homozygous dominant or heterozygous with a probability 1/3 AA : 2/3 Aa (or 1:2). (1)

3.2(a) 9 (1)

(b) RR Yy (1)

(c)
Progeny classes Observed (O) Expected (E) Σ(O – E)2/ E (1)
Round, yellow 160 9
/16 x 300 = 168.75 76.56/168.75 = 0.45
Wrinkled, yellow 52 3
/16 x 300 = 56.25 16.06/56.25 = 0.32
Round, green 63 3
/16 x 300 = 56.25 45.56/56.25 = 0.81
Wrinkled, green 25 1
/16 x 300 = 18.75 39.06/18.75 = 2.08
Total 300 300 X2 = 3.66 (1)

For df =3, the calculated chi-square value of 3.66 falls between 2.366 and 6.251
The associated probability interval is 0. 5 – 0.1
OR The probability is greater than 0.1 (10%) but less than 0.5 (50%) that differences due to
chance.
OR 0.1 < P < 0.5 wrong way round -½
OR 0.5 > P > 0.1 (1)

Probability greater than the cut-off value of 0.05 that differences due to chance. (1)
OR the differences are probably only due to chance.
OR differences between observed and expected are not significant
OR the data fit the expected 9:3:3:1 ration
(Only give this mark if calculated chi-square value is <7.815)
Question 4 [12]

4.1

Mode of inheritance of short tails │ Meganisme van oorerwing van kort sterte

Autosomal Autosomal Z-linked dominant Z-linked recessive

dominant recessive
Outosomaal Outosomaal Z-gekoppel Z-gekoppel resessief
dominant resessief dominant
Parents ♀ short x ♂ long ♀ short x ♂ long ♀ short x ♂ long ♀ short x ♂ long
Ouers ♀ kort x ♂ lank ♀ kort x ♂ lank ♀ kort x ♂ lank ♀ kort x ♂ lank

F1 phenotype All short-tailed All long-tailed ♀ all long (½) All long (1)
F1 fenotipe Almal kort sterte Almal lang sterte ♂ all short (½)

F2 phenotype 3 short : 1 long 3 long : 1 short ½ long : ½ short ♂ all long (½)
F2 fenotipe (1) (1) (1) ♀ ½ long : ½ short (½)

4.2(a)
(i) Drosophila: Ratio of X : A
X = number of X chromosomes (½)
A = number of haploid sets of autosomes (½)
X:A = 1 results in female development (½)
X:A = 0.5 results in male development. (½)

(ii) Humans: Presence of the SRY gene (½) on the Y chromosome (½) activates male embryonic
development (½).
In the absence of the SRY gene / Y chromosome the default pathway of female development
results (½).

(b) 4 x (½)

Sex chromosomes Sex in Drosophila Sex in humans

XO Male Female
XXXY Metafemale Male