Genetics Practice Exam Questions - Key

Download as pdf or txt
Download as pdf or txt
You are on page 1of 20

© UBC 2018W1-BIOL121-122 – NOT FOR RESALE

Genetics Practice Exam Questions – Key

24 M.LAANE ET AL. Hereditas 99 (1983)

1. The image on the right shows all 68


chromosomes
Pollen surfacefrom one root
morphology wastip cell ofafter
studied
fixation in 2 % glutaraldehyde in O.1M Na-caco-
a plant called Campanula rotundifolia
I '
c m%
dylate buffer, then post-fixation in 1 % OsO, in the
after
sameDNA replication.
buffer, dehydration in ethanol and critical-
point drying by COz. The pollen was coated with
gold-palladium and examined in a scanning m
electron microscope. The morphological meas-
urements are based on 10 specimens from each
population. Living material of representative di- *88* 11+ 8*
ploid and tetraploid populations is still cultured at s+
the Botanical Institute, University of Oslo.
* r * 4

Results
Mitotic chromosomes
Mitotic chromosomes in the C. rotirndijolia com-
plex are usually too small or contract too much by
colchicine treatment for karyotype studies (sizes
about 1 pm or less). By chromosome spreading of
prometaphase nuclei (Fig. 1, 2 A, B) we tried to
karyotype two diploid populations (D3, Snflfjord,
Fig. 2B and D9, Bassivuovdi, Fig. 2A). Both
karyotypes indicate that the chromosomes are ar-
ranged in pairs only, except for chromosomes No.
13 in D3 which shows heteromorphism for a sec-
ondary constriction. Although some uncertainties
exist by arranging the pairs, the pair No. 1 in D3
shows, probably, heteromorphy in the long arms. J,
The pairs No. 16 and No. 17 are significantly smal- Fig. 3. Completely spread mitotic root-tip cell from
ler than the other chromosome pairs. Also the T197, KPgen. Note the four smallest chromosomes, in-
pairs No. 2-3 and No. 10 appear to be heteromor- dicating that the karyotype consists of 17 quadruplets. -
a) Howin many
phic short/orchromatids
long arms. In does
D9 theone of theseBarchromosomes
secondary
= IOprn.
have? (1 mark)
constricted chromosome (No. 13) is lacking and
Two chromatids.
also a marked heteromorphism appears in the long
arms of No. 1, further a difference in size was group. At both polidy levels arrangements of four,
found between pairs No. 16 and 17. six, sometimes many more chromosomes are
Although we obtained completely spread tetra- found at MI (see Tables I and 2, Fig. 4-6). In
ploid metaphases in material from a number of addition, a number of structural changes and also
b) How many
populations DNA
(see Fig.double helices is each
3) the chromosomes had one of chromosomes
disturbances in chromosomemade of? (1 together
kinetics, mark)
contracted too much to permit analysis. The with presence of extra chromosomal material, are
Two. preparations seem, however, to indicate seen.
tetraploid
that the chromosome are mostly to be arranged in We detected and analyzed the following charac-
grorcps oj' four, suggesting autopolyploidy ; note teristics: (1) Unassociated chromosomes in first
the four small chromosomes in Fig. 3. meiotic metaphase (irnit&vzts: I) (DILD2,
D4-D9, all tetraploids) (Fig. 4d, f, 5).
c) It is very difficult to recognize homologous (2) Arrangements ofon
chromosomes three
the distinctly
picture, associated
but
Meiosis
chromosomes (trivalents: 111) (no diploids, T1-5 1,
knowing
Meiosis that
in the Campanula
Campanula rotundifolia
rotrtnd(folia complex is diploid,
T106-107, how
T136,many pairs(usually
T160-194) of homologous
chain as in
has previously been extensively described
chromosomes are present in one of its root tip cells? (1 mark)
Fig. 7).
(BWHER1960, 1963; LAANE1965, 1968). Further (3) Arrangements of four distinctly associated
34 of meiotic stability of different populations chromosomes either chains or rings (qrradrira-
studies
provide clues to the evolutionary history of the lents: IV). Polyploid associations inseparable from

1
© UBC 2018W1-BIOL121-122 – NOT FOR RESALE

2. In corn, the colour gene has two alleles, C1 and C2. C1 is dominant to C2 and results
in yellow kernels. The starch gene also has two alleles, S1 and S2, and S1 is dominant
to S2 and results in highly starchy corn. Finally, the wax gene also has two alleles, W1
and W2. These three genes are on three different chromosomes.
a. A corn plant has the genotype C1/C2; S1/S2; W1/W2, as shown in the
diagram below.
What is the maximum number
of different gamete genotypes
that can be produced when a
single sex cell from this plant
undergoes meiosis? (1 mark)

4 (four)

b. A sex cell from this corn plant undergoes meiosis and produces four
gametes. Two of these four gametes are represented in the diagrams
below:

Based on the gametes show above, draw clear diagrams showing the
chromosomes of the original corn sex cell that produced these two
gametes:

i. at G2 (after DNA replication, before the start of meiosis): (4


marks)
- Must have right number of chromosomes
- Chromosomes must have sister chromatids, clearly attached to
each other and relatively parallel to each other
- Homologs need to look homologous enough
- Sister chromatids must have identical alleles (if only one allele
indicated, they must clearly show the “line” that spans both
chromatids)
- Example on next page:

2
© UBC 2018W1-BIOL121-122 – NOT FOR RESALE

ii. at metaphase of meiosis I, clearly indicating the direction in which


the chromosomes will segregate/move: (4 marks)
- homologs have to be paired
- pairs have to be lined up head to tail
- direction of segregation has to be clear and result in C1;S2 and
C2;S1 gametes
- there has to be evidence of crossing over somewhere between
the W gene and the centromere of the chromosome it is on,
involving two non-sister chromatids (see diagrams for examples),
and this crossover must be possible
- cross-over has to be explicitly labeled (e.g., “one crossover
swapped alleles W2 and W1”)
Example of one possible correct answer below (other correct answers may also be
possible):

3
© UBC 2018W1-BIOL121-122 – NOT FOR RESALE

3. The jack jumper ant (Myrmecia pilosula) is 2n = 2. An ant has the genotype aB/Ab
(the A and B loci are on the same chromosome). It was produced from two pure-
breeding parents with the genotypes aB/aB and Ab/Ab respectively.

a. Based on the structures separating in this figure to above, what stage of


meiosis is this cell in? (1 mark)
Remember it says MEIOSIS! So what stage could it be in meiosis?
Sister chromatids (i.e., not homologues) are separating, so it is anaphase
of meiosis II.

b. Given your answer to part “a”, and knowing that the genotype of our
2n=2 jack jumper ant, what is incorrect about this cell, and what, if
anything is correct? (1 mark)
Now that they have decided on the stage, they need to explain how it
deviates.
If sister chromatids are separating, the products from this part of meiosis
will be two of the four gametes. The gametes from what is shown below
will be 2n=2, which is wrong. They should be n=1. So there are too many
chromatids here.
However, the allele combinations are correct (aB from one parent, and
Ab from another parent).

c. For the stage shown in “a”, draw what the meiotic cell SHOULD correctly
look like for the ant described above. (1 mark)
Drawing of cell should have two chromosomes (instead of four), each
with one chromatid, being pulled in opposite directions.

4
© UBC 2018W1-BIOL121-122 – NOT FOR RESALE

4. Imagine a diploid species with a total of six chromosomes in their somatic cells. Of
those six chromosomes, four are autosomes, and two are sex chromosomes. Like
humans, males have two sex chromosomes that are different from one another (XY),
whereas females have two sex chromosomes that are the same (XX).
A geneticist is interested in three different genes in this species:
Gene Alleles Gene function Gene is found on:
A B
bt bt , bt Blood type A vs. blood type B chromosome 1
+ –
eye eye , eye Presence vs. absence of eyelashes chromosome 2
+ –
cel cel , cel Ability vs. inability to digest cellulose X chromosome

a. A female of this species is a triple heterozygote (genotype btA/btB; eye +/eye –


; cel +/cel –). Her mother was a triple homozygote for the alleles btA, eye –, and
cel +.
Draw a somatic cell of the triple heterozygote female in the G1 stage of the
cell cycle (that is, before DNA replication). Make sure the chromosomes are
properly drawn and clearly label all the relevant genes and alleles. (4 marks)
The cell must show three pairs of homologous chromosomes that are
distinct from one another. The chromosomes must be unreplicated (single
chromatids); genes must be in the same location on homologous
chromosomes, and the alleles for the each of the three genes must be
clearly labelled.

b. Which alleles did the triple heterozygote inherit from her mother, and which
alleles must she have inherited from her father? (2 marks)
Because the mother was a triple homozygote, the triple heterozygote
female had to have inherited the btA, eye –, and cel + alleles from her
mother; that means she must have inherited the btB, eye +, and cel – from
her father.

c. For research purposes, you remove three sex cells from the triple
heterozygous female, let them undergo meiosis, and then analyze the
genotypes of the gametes that are produced. The first sex cell produces two
gametes with the genotype btA; eye +; cel +, and two gametes with the
genotype btB; eye –; cel –.
i. Draw the sex cell at metaphase of meiosis I. Make sure you clearly
label all the relevant genes and alleles. (3 marks)
The homologous chromosomes must be matched up in such a way that
when they are pulled in opposite directions during anaphase I, the btA, eye
+
, cel + alleles go in one direction, and the btB, eye –, cel – alleles go in the
other.

5
© UBC 2018W1-BIOL121-122 – NOT FOR RESALE

ii. The second sex cell produces two gametes with the genotype btB; eye
+
; cel +, and two gametes with the genotype btA; eye –; cel –. Explain
what must have caused the difference in genotypes between the
daughter cells of the first sex cell, and the daughter cells of the
second cell. (1 mark)
The homologous chromosomes must have lined up with a different
arrangement during metaphase I.

iii. If we looked at the gametes produced by 100 different sex cells from
the triple heterozygous female, what different genotypes could we
expect to see, and in what proportions?
Given each gene is on a different chromosome, we should expect the allele
to assort/segregate independently (i.e., there is no linkage disequilibrium).
That means all combinations of the different alleles are equally likely:

§ btA, eye +, and cel + 1:1:1:1:1:1:1:1


§ btA, eye +, and cel –
§ btA, eye –, and cel + OR
§ btA, eye –, and cel –
§ btB, eye +, and cel + 12.5% of each
§ btB, eye +, and cel –
§ btB, eye –, and cel + OR
§ btB, eye –, and cel –
1/8 of each

6
© UBC 2018W1-BIOL121-122 – NOT FOR RESALE

5. In hogs, a dominant allele B results in a white belt around the body (giving the
phenotype “belted”) and the recessive allele b gives the “unbelted” phenotype. At a
separate locus (i.e., a different gene), the dominant allele S causes fusion of the two
halves of the normally cloven hoof (a condition known as syndactyly); the recessive
allele, s, cause hoofs to be cloven.
a. Summarize what the information above tells you about the genes and
alleles (e.g., dominance relationships between alleles), by clearly defining
symbols for each of the alleles:
B > b; BB or Bb: belted, bb: unbelted
S > s; SS or Ss: syndactyly, ss: cloven

b. A belted, syndactylous female was crossed with an unbelted, cloven-


hoofed male, resulting in the following distribution of offspring
phenotypes:
Syndactylous Cloven
Belted 18 21
Unbelted 19 20

What are the genotypes of the parents and offspring? Support your
answer by showing how the genotypes you have assigned to the parents
could produce the proportion of offspring phenotypes shown above.
Possible parent genotypes:
Hypothesis Female Male
H1 B/B; S/S b/b; s/s
H2 B/B; S/s b/b; s/s
H3 B/b; S/S b/b; s/s
H4 B/b; S/s b/b; s/s

H 1: Dad H 2: Dad
b; s b; s
B; S B/b; S/s
Mom B; S B/b; S/s Mom
B; s B/b; s/s
H 3: Dad H 4: Dad
b; s b; s
B; S B/b; S/s B; S B/b; S/s
Mom
b; S b/b; S/s B; s B/b; s/s
Mom
b; S b/b; S/s
b; s b/b; s/s
Continued on next page…

7
© UBC 2018W1-BIOL121-122 – NOT FOR RESALE

The four offspring phenotypes (i.e., combinations of traits) exist in


roughly a 1:1:1:1 ratio. This observation corresponds to distribution of
offspring phenotypes predicted by H4 (see above tables).

c. Two belted syndactylous F1 offspring (i.e., from part b) are crossed with
one another, and produce 112 F2 offspring. Approximately how many F2
offspring of each phenotype would you expect to see?
Cross: B/b; S/s × B/b; S/s

Dad
B; S B; s b; S b; s
B; S B/B; S/S B/B; S/s B/b; S/S B/b; S/s
B; s B/B; S/s B/B; s/s B/b; S/s B/b; s/s
Mom
b; S B/b; S/S B/b; S/s b/b; S/S b/b; S/s
b; s B/b; S/s B/b; s/s b/b; S/s b/b; s/s

Number expected
Phenotypes Genotypes Proportion
(out of 112 offspring)
B/B; S/S
Belted B/B; S/s
9/16 9/16 × 112 = 63
syndactylous B/b; S/S
B/b; S/s
Unbelted b/b; S/S
3/16 3/16 × 112 = 21
syndactylous b/b; S/s
Belted B/B; s/s
3/16 3/16 × 112 = 21
cloven B/b; s/s
Unbelted
b/b; s/s 1/16 1/16 × 112 = 7
cloven

d. Now imagine that the B and S genes are very close together on the same
chromosome, such that crossing over between them is very, very rare
(i.e., you can assume it won’t happen). As in part c, you cross two belted
syndactylous F1 individuals, and those two parents produce 112 F2
offspring.
We can use the notation BS/bs to show that the B and S alleles are very
close to one another (i.e., “linked”) on one chromosome, and the b and s
alleles are very close to one another on the other chromosome.
If you assume that one of the F1 individuals has the genotype BS/bs, and
the other F1 individual has the genotype Bs/bS, what distribution of
phenotypes would you expect to see in the F2 offspring?

Continued on next page…

8
© UBC 2018W1-BIOL121-122 – NOT FOR RESALE

BS/bs individual
B; S b; s

Bs/bS B; s B/B; S/s B/b; s/s


individual b; S B/b; S/S b/b; S/s

OR (alternative way of representing the same answer)

BS/bs individual
BS bs
Bs/bS Bs BS/Bs Bs/bs
individual bS BS/bS bS/bs

Number expected
Phenotypes Genotypes Proportion
(out of 112 offspring)
Belted B/B; S/s
1/2 1/2 × 112 = 56
syndactylous B/b; S/S
Unbelted
b/b; S/s 1/4 1/4 × 112 = 28
syndactylous
Belted
B/b; s/s 1/4 1/4 × 112 = 28
cloven
Unbelted
cloven

9
© UBC 2018W1-BIOL121-122 – NOT FOR RESALE

Challenge question
Note: The question below is more challenging than what you can expect to be asked in
an exam; however, if you can answer the question below, then the other questions
should be easy!

6. Inheritance of blood type in mice is similar to that of humans:


§ There are three alleles for the gene influencing blood type: iA, iB, iO
Genotype Blood type Antigens Antibodies
A A A O
i /i or i /i A A antigens B antibodies
B B B O
i /i or i /i B B antigens A antibodies
A B
i /i AB Both A and B antigens No antibodies
iO/iO O No antigens Both A and B antibodies

Two mice, both with the blood type AB, are crossed with one another.
a. What blood types would you expect to see in the offspring of this cross,
and in what ratios?
1:2:1 (Type A: Type AB : Type B)
OR 25% (¼) each Type A and Type B, and 50% (½) Type AB
iA iB
iA iA/iA iA/iB
iB iA/iB iB/iB

b. Repeated crosses between the two AB mice gave the following ratios of
F1 phenotypes:
§ Blood type A: 3/16
§ Blood type B: 3/16
§ Blood type AB: 6/16
§ Blood type O: 4/16
Your friend suspects that O blood type in the F1 offspring may have been
caused by a mutation in a second gene that also influences blood type.
Do the data above support this hypothesis in any way? Support your
answer.

Continued on next page…

10
© UBC 2018W1-BIOL121-122 – NOT FOR RESALE

We start by hypothesizing that a second gene exists, with one wild type
allele, and one mutant allele: e.g., q + and q –.
If your friend is correct, we could get the results observed if:
1) The q gene determines whether or not antigens can be
produced, independently of the i gene
a. the wild type allele (q +) allow antigens to be produced,
and the mutant allele (q –) prevents antigens from being
produced
b. q + is dominant over q –
2) The two AB parent mice were both heterozygotes for the q gene
Dad
A + B +
i ;q i ;q iA; q – iB; q –
iA; q + iA/iA; q +/q + iA/iB; q +/q + iA/iA; q +/q – iA/iB; q +/q –
iB; q + iA/iB; q +/q + iB/iB; q +/q + iA/iB; q +/q – iB/iB; q +/q –
Mom A –
i ;q iA/iA; q +/q – iA/iB; q +/q – iA/iA; q –/q – iA/iB; q –/q –
iB; q – iA/iB; q +/q – iB/iB; q +/q – iA/iB; q –/q – iB/iB; q –/q –

Phenotypes Genotypes Proportion


i /iA; q +/q +
A
Blood type A 3/16
iA/iA; q +/q –
iB/iB; q +/q +
Blood type B 3/16
iB/iB; q +/q –
iA/iB; q +/q +
Blood type AB A B + – 6/16
i /i ; q /q
iA/iA; q –/q –
Blood type O iA/iB; q –/q – 4/16 = 1/4
iB/iB; q –/q –

11
© UBC 2018W1-BIOL121-122 – NOT FOR RESALE

7. A mutant allele in mice results in big ears. Six pairs of mice were crossed. Their
phenotypes and those of their offspring are given in the following table.

N indicates wild type


ears (i.e., “normal”)

B indicates mutant
ears (i.e., “big”)

a. What might be the mode of inheritance for the big ears trait (i.e., autosomal, X-
linked? Dominant, recessive)? Support your answer.
The gene is X-linked; big ears are dominant over normal ears.
Use cross #1 to test predictions regarding each mode of inheritance. The father
carries the mutant X-linked allele and gives it to all of his daughters; the
mother is homozygous recessive for the wild type allele, and gives it to all of
her sons.

b. What are the genotypes of the parent mice in cross #6?


The female parent in cross #6 is a heterozygote for the X-linked gene (she has
one mutant allele and one wild type allele); the male parent carries the mutant
allele.

c. Imagine the only information you were provided was the information from cross
#2. What would have been your conclusion about the mode of inheritance in
that case?
Based solely on cross #2, the trait could be autosomal.
Also based on cross #2, the mutant allele could be dominant over the wild type
allele (in which case the female parent is heterozygous, the male parent is
homozygous recessive for the wild type allele, ½ the progeny are heterozygous,
and ½ the progeny are homozygous recessive);
OR
The wild type allele could be dominant over the mutant allele (in which case
the female parent is homozygous recessive for the mutant allele, the male
parent is heterozygous, ½ the progeny are heterozygous, and ½ the progeny
are homozygous recessive).

12
© UBC 2018W1-BIOL121-122 – NOT FOR RESALE

8. Pedigrees:
a. For this pedigree, determine the mode of inheritance and the possible
genotypes for each individual. Assume the alleles B1 and B2 control the
expression of the trait. (16 marks)

1 2 3 4

5 6 7 8 9

10 11 12 13 14

15 16 17

If impossible: provide support for your


Possible or
answer making specific reference to the
impossible?
relevant individuals in the pedigree
Autosomal dominant Possible [None required]
Autosomal recessive (For full marks: include the individuals
involved and logical explanation; no marks
for “skips a generation”)
Impossible E.g., If both 7 and 8 are affected, they
would both be b/b; their daughter 10,
would also have to be b/b and so should
be affected.
X-linked dominant (For full marks: include the individuals
involved and logical explanation; no marks
for equal # of males and females as an
explanation)
Impossible
E.g., Individual 13 is an affected male, so
he would be XB/Y; he would pass his X
chromosome on to his daughters, but
none of them are affected.
X-linked recessive (For full marks: include the individuals
involved and logical explanation; no marks
for equal # of males and females as an
Impossible explanation)
Individual 3 is an affected female, so she
would be Xb/Xb. She would pass one of her
X chromosomes on to each of her sons, so

13
© UBC 2018W1-BIOL121-122 – NOT FOR RESALE

they would both be Xb/Y and affected;


however, individual 9 is not affected.

b. Define which of the two alleles (i.e., B1 or B2) is the dominant allele, and
then give the possible genotypes for each of the following individuals: (3
marks)

Individual Genotype Individual Genotype Individual Genotype


3 B/b 6 b/b 8 B/b
10 b/b 11 B/B or 13 B/b
B/b

OR: B1 is the dominant allele, and B2 is the recessive allele

Individual Genotype Individual Genotype Individual Genotype


3 B1/B2 6 B2/B2 8 B1/B2
10 B2/B2 11 B1/B1 or 13 B1/B2
B1/B2

c. If individuals 13 and 14 have a 4th child, what is the probability that it will
be an affected son: State the genotypes of both parents and the child. (3
marks)
The trait is autosomal dominant (see answer to question 1a). That
means individual 13 has to have the genotype B/b (because he has
unaffected daughters) and individual 14 has to be b/b; if the son were
affected, he would have to have the genotype B/b.
There’s a ½ chance (or 0.5 probability) that the child will be a son and a
½ change (or 0.5 probability) that it will be affected. So: ½ × ½ = ¼
chance that the child will be an affected son.

14
© UBC 2018W1-BIOL121-122 – NOT FOR RESALE

15
© UBC 2018W1-BIOL121-122 – NOT FOR RESALE

9. In a maternity ward, four babies become accidentally mixed up. The ABO
phenotypes of the four babies are shown in the table below:

Baby ABO Phenotype


1 O
2 A
3 B
4 AB

The ABO phenotypes of the four couples that gave birth to the babies are:

Couple ABO Phenotypes


I AB × O
II A×O
III A × AB
IV O×O

a. Based on the information above, predict which couple could be the parents of
each baby. Show your work, and then complete the table below. Use the
following symbols for alleles:
Associated
ABO Phenotype
allele
O iO
A iA
B iB
Remember that the dominance relationships are: A > O, B > O; A and B co-
dominant.

[Table on next page]

16
© UBC 2018W1-BIOL121-122 – NOT FOR RESALE

(Possible)
Baby ABO Phenotype Possible parents Notes
genotype(s)
Couple II (if the Must actually
individual with be Couple IV
the A phenotype (Couple II
1 O iO/iO
is heterozygous), gave birth to
or Couple IV Baby 2 – see
below)
Couples I, II, or III Must actually
be Couple II
(Couple I gave
birth to Baby
2 A iA/iA, iA/iO
3, Couple III
gave birth to
Baby 4 – see
below)
Couples I or III (if Must actually
the individual be Couple I
with the A (can’t be
phenotype is Couple III,
3 B iB/iB, iB/iO heterozygous) because
Couple III
gave birth to
Baby 4 – see
below)
Couple III Couple III is
A B
4 AB i /i the only
possibility

b. A sex cell from one of the AB parents undergoes meiosis. What will be the
genotypes of the resulting gametes, and in what proportions? Support your
answer by showing your work (e.g., diagram of the cell undergoing meiosis, with
relevant alleles correctly labeled).
Half of the gametes will have the genotype iA; half will have the genotype iB.

17
© UBC 2018W1-BIOL121-122 – NOT FOR RESALE

10. “Large heart” is a very rare heritable phenotype in horses; affected individuals have a
larger than normal heart, which allows them to run faster and perform exceedingly well
in horse races. The pedigree below shows the inheritance of the large heart phenotype
in a large family of horses.

a. Based only on the pedigree above, fill out the table indicating which modes of
inheritance are possible and which ones are impossible. For the modes of
inheritance that are NOT possible, provide support for your answer making specific
reference to the relevant individuals in the pedigree. Your explanations should only
be 1–2 sentences maximum.
(6 marks)
Possible or If impossible: provide support for your answer making specific reference to the
impossible? relevant individuals in the pedigree.

Impossible Refer to a situation where unaffected parents have an affected offspring,


Autosomal making specific reference to the individuals in question.
dominant Explain how this information allows us to rule out autosomal dominant.
e.g., Individuals 1 and 2 (or 5 and 6) are unaffected, but they produce 9, who is
affected

Autosomal Possible [None required – the inheritance is possible]


recessive

Impossible Refer to a situation where unaffected parents have an affected offspring, OR where an
X-linked affected male has an unaffected daughter, making specific reference to the individuals
dominant in question
Explain how this information allows us to rule out X-linked dominant
e.g., If large heart was X-linked dominant, then either individual 1 would have to be
affected, because she must have the “affected”/large heart allele in order to pass it on
to 9, who is affected (NOTE they have to be specific about the mother having to be
affected, because individual 9 gets his X chromosome from the mother). The same
applies for individual 5.
Another example: If large heart was X-linked dominant, then individual 9 would have
the “affected” allele on his X chromosome; he passes his X to all his daughters, who
should therefore all be affected. (1 and 2, 5 and 6, 8 and 9, 11 and 12 are also examples)

X-linked Possible [None required – the inheritance is possible]


recessive

18
© UBC 2018W1-BIOL121-122 – NOT FOR RESALE

b. What is the genotype of individual 8? Please define the letters/symbols that you will
use and briefly explain your answer. (4 marks)
H = normal heart; h = (must define alleles; can choose any symbols but must be
defined and used consistently; students can use other symbols, provided that they
are defined and used consistently; can only be one letter since one gene).
If say X-linked, must define alleles and only get half the marks since at this point we
don’t know if it’s X-linked recessive or autosomal recessive.
Genotype of individual 8: H/h (genotype must be heterozygous and written out
properly; no need to include X chromosomes because at this point they don’t know
if it’s X-linked or autosomal).
Individual 8 is unaffected, so she must have at least one wild
type/normal/unaffected/normal heart allele. One of her sons, individual 19, is
affected, and because the affected/large heart-associated allele is recessive,
individual 19 must have inherited a mutant/affected/large heart allele from his
mother, who therefore must have such an allele. (Marks deducted if individuals are
not specified.)

c. DNA sequencing of the gene involved was conducted on individuals 2, 4 and 5. It


was found that none of them have the affected, “large heart” allele. With this
additional information, what is the mode of inheritance of the large heart
phenotype? Explain your answer by making reference to specific individuals in the
pedigree. (3 marks)
It is X-linked recessive.
Individuals 2 and 5 have affected sons, but don’t have the mutant/affected/large
heart allele.
This means that they cannot have passed on such alleles to their sons, so their
affected sons must have inherited it from their mother. (Note: For full marks must
mention the mother.)
[If the trait is X-linked, males will display the phenotype even if they have only one
affected/mutant/large heart allele, as they only have one X chromosome and
therefore only one allele/any expression that gets at this.]
OK if say why it can’t be autosomal as long as full explanation is given.

19
© UBC 2018W1-BIOL121-122 – NOT FOR RESALE

11. Mendel crossed pea plants homozygous for tall height and purple flowers (P/P; T/T) with
homozygous recessive short plants with white flowers (p/p; t/t). The F1 are P/p; T/t.
These genes are on different chromosomes.
a. Draw the arrangement of these chromosomes in the F1 at metaphase I of meiosis, if
crossing over is NOT occurring. Place the alleles on the respective chromosomes. (3
marks)
Chromosomes have to have two sister
chromatids. Sister chromatids have to
P P p p have same alleles, homologous pairs
beside each other
[Marks deducted if non homologous
chromosomes are all in a row with
homologous, like in mitosis].
Chromosomes with dominant and
recessive alleles can be on left or right.

t t T T

b. What is meant by the independent assortment of chromosomes? Indicate how the


arrangement of chromosomes at metaphase I could results in independent
assortment. (3 marks)
Alleles on non-homologous chromosomes will randomly be present in gametes.
The paternal and maternal chromosomes (P/P and T/T or p/p and t/t will line up
randomly at meiosis I, i.e., recessive and dominant alleles can be on right or left
which determines which gamete the chromosome ends up in.

c. How many different gametes can possibly be formed at the end of this meiotic
division? (1 mark)
Four (4)

d. In no more than 20 words (only the first 20 words will be marked), why is genetic
variation important in populations? (1 mark)
e.g., Increases the probability of adapting to change if environmental conditions
change. [Note: This question is not asking about the importance of sexual
reproduction or being diploid.]

e. The second meiotic division is similar to a mitotic division. Indicate two ways the
second meiotic division is the same as a mitotic division and two ways it is different
from a mitotic division in the same organism. (4 marks)
Example answers – Same: no pairs at metaphase, no crossing over, chromosomes
are condensed, sister chromatids separate
Different: only half the diploid number of chromosomes, half the DNA, no S phase
before division, sister chromatids may not be identical

20

You might also like