Biology 202 BASIC GENETICS Final Examination 2007 VERSION # 1 -5-

SHORT ANSWER QUESTIONS

1. In a laboratory population of Drosophila melanogaster, the narrow-sense heritability

(h2) of abdominal bristle number is 0.52 when measured at 14 degrees Celsius. Suppose
the mean bristle number in this population is 35.2.

(a) (2 points) What would you predict the mean number of bristles to be in the
offspring generation if a selection differential (S) of 2.0 is applied for increased
bristle number, and the response to selection (R) is measured in offspring grown
at 14 degrees Celsius (Note: Assume that the covariance of genotype and
environment is zero when answering this question)? Please show your
calculations.

One uses the “Breeders Equation” to solve this problem; namely the response to
selection (R) is a product of the selection differential (S) and the narrow-sense
heritability (h2). Or in other words, R = h2 S = 0.52 x 2.0 =1.04.
(Award 1 point for recall of correct formula and its correct application in the
calculation of R).

This response to selection (R) must now be added to the mean of the parental
generation (parental mean = 35.2) in order to arrive at the predicted offspring mean
of 36.24 (i.e., Predicted offspring mean = parental mean + R = 35.2 + 1.04)
(Award 1 point for correct use and application of the calculation of R in predicting the
offspring bristle number)

(b) (1 point) Answer the above question (in one sentence), but now assume that
response to selection (R) is measured in offspring grown at 20 degrees Celsius
instead of at 14 degrees.

Correct answers:

One cannot predict R under these conditions, as at the new temperature of 20 C,

changes in phenotypic expression among genotypes are expected to be different
from those observed at 14 C.
or/
One cannot predict R under these conditions, as at the new temperature of 20 C, the
likely existence of non-parallel norms of reaction for quantitative traits mean that
the response may be different from that observed at 14 C.

Some Incorrect answers:

The response will be the same because the covariance of genotype and environment
is zero at each temperature. (Note: Zero genotype-environment does not change the
fact that genotypes may respond differently to a new environment; in other words, the
genotype-environment covariance can be zero when measured in each environment (14
and 20 C), but this does not imply that the norm of reaction is flat across
temperatures).

The response will be the same because the heritability is already known (calculated)
at 14C and should, therefore, not change (This answer is incorrect, as we are
interested in the response to selection. Even though heritability may be different when
measured at 20 C this is not really the point. Rather, it is inability to know in advance
the norm of reaction that is the problem that enters into predicting the response, not the
heritability; i.e., the issue is not the heritability, but rather the way that genotypes
respond to new environments. In fact, even if the heritability were to remain unchanged,
the response may still differ, due to non-flat norms of reactions of the genotypes.
Biology 202 BASIC GENETICS Final Examination 2007 VERSION # 1 -6-

SHORT ANSWER QUESTION

2. Drosophila compound eyes are made up of many individual facets known as

ommatidia. In a screen for eye mutants, three novel genes were identified:

- HANGOVER (HOV) – the facet size is variable, giving a rough-eye appearance

- REDUCTO (RDO) – the eyes are smaller and contain fewer facets
- GEORDIE (GDE) – the compound eyes are shaped like horizontal bars, rather
then being round

In order to determine the relative roles of these genes, double mutants were constructed
and found to have the following phenotypes:
- hov rdo – no eyes
- hov gde – rough, bar-shaped eyes
- rdo gde – small, bar-shaped eyes

(a) (2 points) Determine the types of genetic interactions between these genes and
briefly explain your reasoning.

This question is just like the sample question done in lecture 17 (slide 27)

- hov rdo – no eyes synergistic phenotype in double, so act together to make eyes
- hov gde – rough, bar-shaped eyes additive phenotype, so act independently in
parallel
- rdo gde – small, bar-shaped eyes also additive

1 pt for hov rdo

0.5 pts each for hov gde & rdo gde since same interaction for both double mutants

(b) (1 point) Based on your above conclusions, draw a model for the regulation of
eye development in Drosophila (make sure you label it clearly).

Expecting a model like the one drawn in lect 17 (slide 27) – see below - but accepted
other types of models as long as the relationships were clear – also looked for things
that reflected the gene interactions determined in “a” (as requested)

Model: HOV RDO GDE

( make (make correct |
proper number |
facet) facets) |
| | |
|___________ | |
| |

Make eye Shape of eye

Biology 202 BASIC GENETICS Final Examination 2007 VERSION # 1 -7-

Prof. Schoen’s

MULTIPLE CHOICE

3. (1 point) The genotype frequencies of two separate populations are as follows:

AA Aa aa
Population 1 .36 .48 .16
Population 2 .55 .10 .35

What are the allele frequencies? Are the populations in Hardy-Weinberg equilibrium?

a) f(A) = 0.6, f(a) = 0.4 in both populations. Population 1 is in Hardy-Weinberg

equilibrium but population 2 is not.
b) f(A) = 0.6, f(a) = 0.4 in both populations. Both populations are in Hardy-
Weinberg equilibrium.
c) f(A) = 0.6, f(a) = 0.4 in both populations. Neither population is in Hardy-
Weinberg equilibrium.
d) f(A) = 0.84, f(a) = 0.16 in population 1 and f(A) = 0.65, f(a) = 0.35. Neither
population is in Hardy-Weinberg equilibrium.
e) f(A) = 0.84, f(a) = 0.16 in population 1 and f(A) = 0.65, f(a) = 0.35. Both
populations are in Hardy-Weinberg equilibrium.

Answer (a) Note: Some people incorrectly answered with (b). This answer is
incorrect. Population 1 has allele frequencies p=0.6 and q=0.4, and application of the
formulation for HW shows it is in HW proportions. Population 2 has the same allele
frequencies as population 1, but is not in HW.

4. (2 points) In an experiment on tobacco flower length, the variance in flower length

shown by two pure-breeding lines and the F1 averaged 8.76. The total variance in flower
length of the F2 was 40.96. What is the broad-sense heritability (H2) of flower length in
tobacco (in this experiment)?

a) H2 = 0.214
b) H2 = 0.728
c) H2 = 0.786
d) H2 = 0.272
e) H2 = 1.0

Answer (c)

5. (1 point) To establish that evolution by natural selection is operating in a

population, one must demonstrate variability for a trait, heritability of
that trait, differential reproductive success and/or survival based on that trait, and:

a) continuous change in the environment.

b) mutation.
c) inbreeding.
d) increased complexity of the organism.
e) nothing else.

Answer (e) Some people mistakenly answered as (a). While continuous change in the
environment may be associated with natural selection, it is not a requirement for
demonstrating that natural selection is operating if, as the question states, once one has
Biology 202 BASIC GENETICS Final Examination 2007 VERSION # 1 -8-

already established variability, heritability, and association with reproduction or

selection for the trait, as mentioned above in the question.

6. (1 point) What is the “norm of reaction”?

a) The cumulative contribution made by all the genes that contribute to a

quantitative trait.
b) The range of phenotypes produced by a genotype as a function of an
environmental variable, such as temperature.
c) The genetic variance that arises from the average effects of substituting one
allele for another at a gene locus.
d) The proportion of the total phenotypic variance that is due to genetic variance.
e) The proportion of the total phenotypic variance that is due to additive genetic
variance.

Answer (b)

7. (1 point) Inbreeding in a very large population results in:

a) a change in allele frequencies.

b) extinction.
c) increased frequency of heterozygotes.
d) increased frequency of homozygotes.
e) none of the above.

Answer (d) Inbreeding influences genotype not allele frequencies, and generally
increases the frequency of homozygotes.

8. (2 points) A completely recessive allele at a locus with two alleles has a frequency of
0.7 in a large population. What will be the frequency of this allele in the next generation
if the homozygous genotype for it has a relative fitness of 0.6?

a) 0.63
b) 0.70
c) 0.71
d) 0.85
e) 0.50

Answer (a)

9. (1 point) A population in Hardy-Weinberg proportions has eight times as many

heterozygotes as homozygous recessives at a locus with two alleles. What is the
frequency of the recessive allele?

a) 0.1
b) 0.2
c) 0.3
d) 0.4
e) Can’t be calculated.

Answer (b) With a recessive allele frequency of 0.2, the frequency of homozygote
recessives at HW equilibrium is 0.04 and the frequency of heterozygotes is 0.32.

10. (2 points) Which of the following techniques would be considered genome

annotation, functional genomics or comparative genomics?
Biology 202 BASIC GENETICS Final Examination 2007 VERSION # 1 -9-

1) Comparing DNA sequences between genomes to determine the degree of

matching
2) Characterizing the transcriptome and proteome present in a cell at a specific
developmental stage or in a particular disease state
3) ORF searches
4) Cloning and sequencing of expressed sequence tags (ESTs) from different
tissues
5) BLASTing genome sequences against known cDNAs to identify genes

a) #1 is comparative; #2,4 are functional; #3,5 are annotation

b) #1 is comparative; #2,3 are functional; #4,5 are annotation
c) #1 is comparative; #2,5 are functional; #3,4 are annotation
d) #5 is comparative; #2,4 are functional; #1,3 are annotation
e) #5 is comparative; #3,1 are functional; #2,4 are annotation

answer is “a”

11. (1 point) The Arabidopsis genome contains 10 actin genes. While the coding region
of these genes appears to be quite similar (conserved) within the gene family, the
upstream non-coding regions appear to be more divergent, suggesting that these genes
may be regulated at the level of gene transcription. How would you be able to confirm
this hypothesis?
a) Use bioinformatics to compare the sequences of the upstream promoter
regions
b) Construct promoter-reporter gene (transcriptional) fusions for each regulatory
region
c) Use anti-sense RNA probes for each gene in in situ hybridization on tissue
sections
d) “a” and “b”
e) “b” and “c”

the correct answer is “e” since both transcriptional fusions & RNA in situ
hybridization show where the gene is transcribed & would test/confirm the
hypothesis (however, ended up allowing “d” as an answer as well, since a number of
students seemed to think that the original bioinformatics described in the question
could have been inadequate and needed to be repeated in more depth)

12. (2 points) A novel family of four putative transcription factor genes was identified in
C. elegans. To study the roles of the gene family members, a combination of expression
analysis using in situ hybridization and reverse genetics using RNAi was employed,
yielding the following results:

Gene Expression pattern Phenotype of RNAi

mutants
CeNTF1 Digestive system Wild-type appearance
CeNTF2 Digestive system, body muscle cells Uncoordinated movement
CeNTF3 Vulva Lack of vulva
CeNTF4 Mouthparts, digestive system, body muscle Die early, don’t seem to
cells feed

What conclusions can be drawn from this experiment?

a) Some genetic redundancy exists between family members

b) CeNTF1 plays no role in digestive system development
 Biology 202 BASIC GENETICS Final Examination 2007 VERSION # 1 - 10 -

c) Expression pattern is an absolute predictor of expected results in a knockout

experiment
d) The CeNTF family do not act as transcription factors
e) CeNTF3 cannot really be a member of the same gene family as the other 3
genes

answer is “a”

13. (2 points) What phenotype do you expect for the following Lac operon partial diploid
mutant?

I+ P- O+ Z+ Y- / F’ I+ P+ OC Z- Y+

a) β-galactosidase and permease are both constitutive

b) β-galactosidase and permease are both uninducible
c) β-galactosidase is uninducible and permease is constitutive
d) β-galactosidase is constitutive and permease is inducible
e) β-galactosidase is uninducible and permease is inducible

answer is “c”

14. (1 point) Which of the following statements about prokaryotic gene regulation is
FALSE?
a) Levels of cyclic AMP are used as part of the system to gauge the need for
enzymes to catabolize sugars other than glucose
b) Prokaryotic genes are generally regulated at the levels of transcription and
post-translational modifications
c) Allosteric regulation is commonly used to change the activity of regulatory
proteins
d) While positive and negative regulatory proteins both exist, the same protein
cannot act as both a positive and negative regulator
e) Lac I physically prevents transcription of the Lac operon in the absence of
lactose by interfering with the binding and/or movement of RNA polymerase

answer is “d” (recall that AraC acts as both a positive & negative regulator)

15. (1 point) For transcription factors that activate genes acting in rapid-response
pathways, such as hormone or stress response, the transcription factors are often
synthesized, but held in the cytoplasm until a signal reaches the cell that leads to
their entry into the nucleus. Which of the following techniques could be used to
test nuclear entry upon hormone signalling for a particular hormone-response
transcription factor in Drosophila neurons?
a) In situ hybridization on neurons before and after exposure to the hormone
b) Study of a translational fusion between the transcription factor and a
reporter protein such as GFP before and after exposure to the hormone
c) Deletion series of the promoter for a gene believed to be regulated by the
transcription factor
d) “a” and “b”
e) “b” and “c”

answer is “b” (only seeing where the protein itself moves will test this – the other
2 techniques focus on transcription)
 Biology 202 BASIC GENETICS Final Examination 2007 VERSION # 1 - 11 -

16. (2 points) You are interested in studying transcription factors and have developed an in
vitro transcription system by using a defined segment of DNA that is transcribed under the
control of a eukaryotic promoter. The transcription of this DNA occurs when you add purified
RNA polymerase II, TFIID (TATA binding protein), TFIIB and TFIIE (bind to RNA
polymerase). You perform a series of experiments that compare the efficiency of transcription
in this “defined system” with the efficiency of transcription in a crude nuclear extract. These
include using a full-length template promoter as well as a series of deletions and yield the
following results:
Transcription levels
Defined system Nuclear Extract
Full length:
+ ++++
Deleted versions:
-204 -127 -61 -20
-204
+ ++++

-127
+ ++++

-61 + +

-20 None None

Considering these results, which of the following conclusions can you draw?

a) The DNA upstream of -61 basepairs is absolutely required for

transcription of this gene.
b) There is at least one other transcription factor/regulatory protein required
for full transcription from this promoter that is missing from your defined
mix.
c) Since the TATA box is located at -10, the complete loss of transcription in
the -20 deletion must be due to the loss of a combination of other
important cis regulatory sites.
d) “b” and “c”
e) “a”, “b” and “c”

answer is “b” (still have transcription with the -61 construct, so “a” is wrong;
and eukaryotic TATA boxes are at -35 not at -10 so “c” is wrong)

17. (2 points) DNA methylation is commonly associated with reduction of

transcription. Researchers decided to study the impact of the location of DNA
methylation on gene activity in human cells. The following data describe the relative
expression of a reporter gene (luciferase) in response to different levels of DNA
methylation both outside and within the transcription region.
Biology 202 BASIC GENETICS Final Examination 2007 VERSION # 1 - 12 -

DNA segment Patch size of Number of Relative

methylation methylated luciferase
(kb) CpGs expression
Outside transcription 0.0 0 490X
unit (0 – 7.6 kb away) 2.0 100 290X
3.1 102 250X
12.1 593 2X

Inside transcription unit 0.0 0 490X

1.9 108 80X
2.4 134 5X
12.1 593 2X

What general conclusions can be drawn from these data?

a) Methylation within the transcription unit has a drastic effect on gene

expression
b) Methylation outside of the transcription unit has a drastic effect on gene
expression only when there are very large numbers of CpGs
c) In both locations, the decrease in gene expression is directly proportional
to the size of the methylated patch, rather than the number of CpGs
methylated.
d) “a” and “b”
e) “a”, “b” and “c”

answer is “d”

18. (1 point) In a screen for novel Drosophila eye colour mutants following X-ray
mutagenesis of wild type flies, you identify a new mutant with eyes having red and white
spotting. Which of the following would you expect to see if this phenotype is due to
position-effect variegation involving the white gene?
a) A less open conformation of the white locus using fluorescent in situ
hybridization (FISH) on chromosomes
b) A larger region of the white-containing chromosome (X chromosome)
bound by heterochromatin binding proteins
c) An altered position of the white locus on its chromosome
d) “a” and “c”
e) “a”, “b” and “c”

answer is “e”

19. (1 point) The initial establishment of polarity in developing Drosophila oocytes is

critical for proper embryogenesis. In what order do the following steps occur for this to
happen?
Biology 202 BASIC GENETICS Final Examination 2007 VERSION # 1 - 13 -

1) Signal from the follicle cells to reorganize the cytoskeleton and reposition the
nucleus
2) Production of GRK by the nucleus
3) Movement of the nucleus to the dorsal part of the oocyte
4) Binding of GRK to the EGF receptor to initiate a signal transduction pathway in the
follicle cells
5) Specification of posterior follicle cells
6) Specification of dorsal follicle cells

a) 2>4>5>1>3>6
b) 2>3>4>6>1>5
c) 3>2>4>6>1>5
d) 1>2>3>4>6>5
e) 2>4>6>1>3>5

answer is “a”

20. (2 points) brainiac is a novel ladybug embryo mutant with enlarged head structures
and loss of posterior structures. Differing results in reciprocal crosses (where swap
parental genotypes) suggest that it is a maternal effect gene. What percentage of the
progeny of a cross between a +/brn female and a +/brn male do you expect to survive to
adulthood?
a) 0
b) 25%
c) 50%
d) 75%
e) 100%

answer is “e”

21. (1 point) In Drosophila embryos, the gene fushi-tarazu (ftz) is expressed in early
embryos in a pattern of seven stripes. Mutations in all of the maternal effect anterior-
posterior patterning genes affect the expression of this gene, as do the Gap genes.
However, expression of the Segment-polarity genes is affected by ftz. What is the
location of ftz in the hierarchy of anterior-posterior patterning genes in Drosophila?
a) Maternal-effect gene
b) Gap gene
c) Pair-rule gene
d) Segment polarity gene
e) Homeotic effector gene

answer is “c”

22. (2 points) Most dicot flowers are made up of concentric whorls of organs (moving
from the outside to the centre): (1) leaf-like sepals, (2) decorative petals, (3) the male
reproductive organs called stamens, and (4) the female pistil that is made of carpels (i.e.
can write the structure of flowers as: sepals, petals, stamens, carpels). The regulation of
floral organ identity has been determined in Arabidopsis through the study of homeotic
mutants leading to the so-called ABC model of floral organ identity, where different
combinations of class A, B and C genes specify each type of organ. Using your
knowledge of the ABC model, what floral organs would you expect to see in a
transgenic flower expressing Class B genes throughout the whole flower? (assume the
domains of function of Class A and C genes are unaffected).
Biology 202 BASIC GENETICS Final Examination 2007 VERSION # 1 - 14 -

a) Sepals, petals, stamens, carpels

b) Sepals, sepals, carpels, carpels
c) Petals, sepals, carpels, stamens
d) Petals, petals, stamens, stamens
e) Stamens, carpels, petals, sepals

answer is “d”

23. (1 point) Which of the following statements about the genetic regulation of
development is FALSE?

a) Establishment of anterior-posterior patterning during Drosophila embryogenesis is

regulated by a cascade of genes, most of which encode transcription factors
b) Both positive feedback loops between cells and inhibitory signals are employed to
determine and/or maintain cell fate
c) In Drosophila, the segment polarity genes encode both transcription factors and cell
signalling factors due to cellularization taking place at about the time of development
when segment polarity genes are activated
d) Combinatorial regulation by transcription factors is very well conserved not only
across organisms within the same kingdom, but also across kingdoms
e) Actually, none of these answers are false, they are all true

answer is “e” – these are all TRUE

24. (1 point) The structure of E. coli Tn10 is IS10L[defective]-Tetracycline

resistance gene-IS10R. What statement about Tn10 is TRUE?
a) Tn10 is a simple bacterial transposon
b) Tn10 moves by a replicative mechanism
c) IS10R can transpose independently of Tn10
d) Because of the presence of two IS10s, transposition of Tn10 leads to the
generation of 2 sets of target duplications
e) Actually, none of the answers are true, they are all false

answer is “c”

25. ( 2 points) In order to understand the method of transposition of LINEs, a

researcher cloned LINE L1 and created several mutant versions of the ORF2 protein.
The ability of these mutant versions of ORF2 to transpose L1 in an in vitro system
capable of sustaining the transposition of wild type L1 was tested:

LINE version Results of DNA analysis

Wild type L1 New L1 found inserted into target site, DNA otherwise intact
L1 missing N- No L1 inserted, DNA otherwise intact
terminal portion of
protein
L1 missing middle No L1 inserted, DNA found to be nicked
of protein
L1 missing C- New L1 found inserted into target site, DNA otherwise intact
terminal portion of
protein

What conclusions can be drawn from these experiments in terms of the location of the
functional domains of ORF2?
Biology 202 BASIC GENETICS Final Examination 2007 VERSION # 1 - 15 -

a) N term – Endonuclease – Reverse transcriptase – Unnecessary – C term

b) N term –Reverse transcriptase – Endonuclease – Unnecessary – C term
c) N term – Endonuclease – Unnecessary – Reverse transcriptase – C term
d) N term – Reverse transcriptase – Unnecessary – Endonuclease – C term
e) N term – Unnecessary – Reverse transcriptase – Endonuclease – C term

answer is “a”

26. (1 point) It has been noted that most transposable elements in humans and
other organisms are located in noncoding regions of the genome – regions such as
introns, pseudogenes, and some types of repetitive DNA sequences. These
observations are consistent with which of the following statements?

a) Insertions in other locations occur, but, because insertions in other locations

can cause mutation, those cells/individuals die and only the noncoding
insertions remain
b) Transposable elements can contain targeting signals that make them insert
preferentially into certain locations
c) Genomes are able to inactivate transposable elements when they insert into
coding regions
d) “a” and “b”
e) “a”, “b” and “c”

answer is “d”

27. (2 points) uncovered (unc) mutants of Arabidopsis plants lack the hairs
(known as trichomes) normally found on their leaves and stems. A novel unc
mutant plant was discovered in which hairlessness only occurred in patches all
over the plant. Most progeny arising from the self fertilization of the many
flowers of this plant had hairlessness in patches, just like the original plant. A
few, however, made completely normal plants. How can this be explained?

a) The novel unc mutant resulted from the insertion of an autonomous

transposable element
b) The normal progeny resulted from imprecise translocation of the element out
of the UNC gene in germ cells
c) The normal progeny resulted from precise translocation of the element out of
the UNC gene in germ cells
d) “a” and “b”
e) “a” and “c”

answer is “e”

28. (1 point) Which of the following statements about spontaneous mutation

is FALSE?

a) The reality of spontaneous mutations was proved by Luria-Delbruck’s

fluctuation test
b) Trinucleotide repeat diseases such as Fragile X syndrome likely result from
replication slippage and looping out of the parental DNA strand
c) The presence of thymine rather than uracil in DNA likely reflects an
evolutionary mechanism to prevent frequent transition mutations through the
deamination of C
d) Tautomeric shifts of bases during DNA replication can be responsible for
Biology 202 BASIC GENETICS Final Examination 2007 VERSION # 1 - 16 -

spontaneous mutation
e) The number of unrepaired spontaneous mutations that occur resulting in
diseases is very low, ranging from less than 1 in a million to ~100 in a
million

correct answer is “b” (“c” happens to be TRUE & it was true on last year’s exam
as well, but since it was allowed as an alternative false answer due to some confusion
last year, many students thought it was false this year as well, so “c” was taken as an
answer this year as well)

29. (2 points) On the world of Pern, dragons are known to form telepathic
bonds with their human handlers. This trait is primarily controlled by a
gene called OUTREACH (OR) and most dragons have the ability to both
form emotional attachments and communicate through their telepathy.
However, rare recessive mutations in OR have been identified in which the
dragons are either unable to communicate telepathetically, but still become
attached (noncommunicators); or be unable to communicate or attach to
humans (loners). Which of the following types of mutation could result in
a loner versus a noncommunicator?

1) Synonymous mutation
2) Nonsense mutation late in the gene
3) Missense mutation with nonconservative change
4) Insertion of a transposable element
5) Deletion of 10 nucleotides
6) Insertion of 6 nucleotides

a) Loner - #1, 3, 4, 5; Noncommunicator #2, 6

b) Loner - #2, 4, 5; Noncommunicator #1, 3, 6
c) Loner - #3, 4, 5; Noncommunicator #2, 6
d) Loner - #1, 2, 4, 6; Noncommunicator #3, 5
e) Loner - #2, 6; Noncommunicator #3, 4, 5

answer is “c” (note, this question is a generalization – in general, certain types of

mutations are less likely to cause severe consequences, while others almost always
cause severe consequences)

30. (2 points) Cell cultures derived from 7 different patients with xeroderma
pigmentosum were grown and fused with each other to form
heterokaryons (combining the contents of 2 nuclei together in one cell).
The occurrence of unscheduled DNA synthesis was determined for each of
the heterokaryons using BrdU labelling. Since no unscheduled DNA
synthesis happens in each of the XP cell lines by themselves, the presence
of unscheduled DNA synthesis in heterokaryons demonstrates
complementation of the XP repair defect phenotype. The summary of the
results are shown in the following table (+ = complementing
heterokaryon; - = noncomplementing heterokaryon):

XP1 XP2 XP3 XP4 XP5 XP6 XP7

XP1 -
XP2 - -
XP3 - - -
XP4 + + + -
Biology 202 BASIC GENETICS Final Examination 2007 VERSION # 1 - 17 -

XP5 + + + + -
XP6 + + + + - -
XP7 + + + + - - -

How many different “XP genes” were identified through this screen?

a) 2
b) 3
c) 4
d) 5
e) 7

answer is “b”

Prof. Chevrette

MULTIPLE CHOICE

31. (1 point)
Which one of the following statements is true?
a) Using either G (Giemsa) or R (reverse) banding, the 23 pairs of human
chromosomes can be identified in interphase obtained from normal human cells.
b) Tetraploid plants will always be fertile since their gamete cells will always have a
pair of each chromosome.
c) The telomeres of polytene chromosomes of Drosophila are fused together at the
chromocenter.
d) Humans being diploid individuals, endomitosis has never been detected in human
cells.
e) None of the above statements (a) to (d) are true.
answer is “e”

32. (2 points)
Two closely related species of blueberry plants were recently found in the deep forest of
Lac-St-Jean. The plant species A, which has 9 chromosomes in its gametes, was crossed
with the closely related species B, which has 11 chromosomes in its gametes.
Microscopic observation of their mother pollen cells (taken during meiotic divisions of
these gametes) showed perfect chromosome pairing of four individual pairs of
chromosomes, but the hybrids were sterile. A section from one of the hybrids that grew
vigorously was propagated, producing a healthy plant.

Which one of the following answers is more likely to describe the cells of this new
healthy plant:

a) There will be 20 chromosomes in its somatic cells.

b) There will be 11 chromosomes in the gametes of this plant.
c) There will be 32 chromosomes in its somatic cells.
d) There will be 36 chromosomes in its somatic cells.
e) There will be 40 chromosomes in its somatic cells.

answer is “c”

33. (2 points)
The normal sequence of nine genes on a certain Drosophila chromosome is 1234 . 56789
where the dot represents the centromere. Over five generations (F1 to F5), some fruit flies
Biology 202 BASIC GENETICS Final Examination 2007 VERSION # 1 - 18 -

were found to have aberrant chromosomes with the following structures detected in F1,
F3, and F5 (please note that flies from F2 and F4 were not fully characterized yet):
F1: 1234 . 567889
F3: 123 . 567898
F5: 125 . 36789
Please note that the flies with the aberrant chromosome structures from one generation
were used to generate the next generation.
What chromosomal changes occurred going from the parental generation through the F5
generation? List in order of occurrence, assuming that only one change occurred per
generation going from parental generation through the F5 generation.
a) inversion-duplication-pericentric inversion-insertion-deletion
b) duplication-pericentric inversion-deletion-paracentric inversion-deletion
c) paracentric inversion-deletion-pericentric inversion-deletion-duplication
d) duplication-paracentric inversion-deletion-pericentric inversion-deletion
e) duplication-deletion-pericentric inversion-deletion-paracentric inversion

The following two questions are derived from this new exciting finding:

Two Canadian scientists have just found a new type of virus that will infect and replicate
in human liver cells but not in mouse liver cells. Dr. J.K.L Hyde hypothesized that human
cells possess a receptor that is absent in mouse cells. On the other hand Dr. Jek Hill, a
competitor of Dr. Hyde, hypothesized that mouse liver cells are protected from the virus
because they synthesize a specific enzyme (the protectase) which does not allow the
formation of virus particles after infection. Both scientists suggest making hybrids
between liver cells derived from the two species to address their hypothesis.
answer is “d”

34. (1 point)
The properties and chromosome content of the hybrids generated by Dr. Hyde are:

Cell hybrids Response to virus Chromosome content

Human Mouse

Hyd1 infection and replication All Most

Hyd2 infection only 2q, 5p, 7q, 12p, 21, Y Most
Hyd3 infection only 1, 2, 3, 5, 7, 12, 15, 18, 19, 21, Y Most
Hyd4 infection only 1, 5q, 7, 12p, 18, 21, Y Most
Hyd5 no infection 1, 2, 5, 12q, 18, 21, Y All
Hyd6 infection only 1, 12, 14, 15, 21, X Most
Hyd7 infection and replication 2q, t(3p;21q), 7p, 12, 18, 23, Y Most
Hyd8 infection and replication 2q, 7, t(12p;15q), 21, 22, X, Y Most

From these hybrids, you can at least conclude:

a) There is no human receptor for the virus

b) The receptor gene is located on human chromosome 12q, and the human
selectable marker is on human chromosome 21.
c) A receptor likely exists, but we need more hybrids to determine which human
chromosome encodes this receptor; however the selectable human marker is on
chromosome Y.
Biology 202 BASIC GENETICS Final Examination 2007 VERSION # 1 - 19 -

d) The receptor gene is located on human chromosome 12p and the human selectable
marker is on human chromosome 21q.
e) The receptor gene is located on human chromosome 12 and the human selectable
marker is on human chromosome 21p.

answer is “d”

35. (2 points)
The properties and chromosome content of the hybrids generated by Dr. Hyde are:

Cell hybrids Response to virus Chromosome content

Human Mouse

Hill1 infection and replication Most 1, 2, 4, 6, 7, 8, 9, 10, 18, 20

Hill2 infection and replication All 1, 2, 5, 9, 10, 14, 15, 16, 19, 20
Hill3 no infection Most 1, 3, 5, 6, 7, 9, 11, 14, 20
Hill4 infection only Most 1, 2, 3, 5, 6, 7, 9, 11, 14, 20
Hill5 infection and replication Most 1, 2, 4, 6, 7, 8, 11, 13, 18, 20
Hill6 infection only Few 1, 3, 5, 7, 9, 10, 13, 15, 18, 19, 20
Hill7 infection only Most t(1;20), 3, 5, 7, 11, 17, 18, 19
Hill8 infection and replication All 1, 2, 7, 9, 13, 16, 18, 19, 20

From the hybrids generated by the two competitors (Drs Hyde and Hill) you can conclude
that:

a) The protectase gene is located on mouse chromosome 3 and the mouse selectable
marker is on mouse chromosome 1.
b) The protectase gene is located on mouse chromosome 3, but there is no human
receptor for the virus.
c) There is a human receptor for the virus and the protectase gene is located on
mouse chromosome 2 and the selectable mouse marker is on mouse chromosome
1.
d) There is a human receptor for the virus and the protectase gene is located on
mouse chromosome 2 and the mouse selectable marker is located on either mouse
chromosomes 1 or 20.
e) There is a human receptor for the virus and the protectase gene is located on
mouse chromosome 3 and the mouse selectable marker is located on either mouse
chromosomes 1 or 20.

answer is “e”

36. (2 points)
Please read the following statements carefully:
1) According to Knudson’s two hit hypothesis, two oncogenes will have to be activated to
produce a cancerous cell.
2) Inactivation of mismatch repair genes such as hMSH2 will lead to genomic instability.
3) The gene of interest (like the ADA gene) present in an adenovirus-derived vector
used in gene therapy experiments will be integrated in the genome of the infected
cells only if these cells are able to divide.
4) In cancer cells, mutations of the p53 gene will induce functional p21, so the cells
can enter S phase and thus will divide more rapidly.
5) The absence of introns in viral oncogene is responsible for their tumor-promoting
activity.
Biology 202 BASIC GENETICS Final Examination 2007 VERSION # 1 - 20 -

Based on the previous statements, which one of the following analysis is RIGHT:
a) Statements (1), (2), (3) and (4) are true, while statement (5) is false.
b) Statements (2), and (4) are true, while statements (1), (3) and (5) are false
c) Statements (2), (3), and (5) are true, while statements (1) and (4) are false.
d) Only statement (2) is true, all others are false.
e) All statements are true.
answer is “d”

37. (1 point)
The following table compares the properties of normal and cancer cells.
Properties in normal cells in cancer cells

Contact inhibition: Present Absent

Irradiation induced cell death: Present Absent
Life span: Mortal Immortal
Karyotype: Normal Many abnormalities
Telomerase activity Present Absent
Angiogenesis Absent Present
Metastatic potential Absent Present

Which property is incorrectly described for normal and cancer cells.

a) Contact inhibition
b) Life span
c) Telomerase activity
d) Angiogenesis
e) Irradiation induced cell death

answer is “c”

38. (2 points)
Dr. S. Carry has just identified a new gene that he called Boo. Dr. S. Carry has also
generated mutant forms of the Boo cDNA. He has then cloned these full length Boo
cDNAs (wild type and mutants) in a mammalian expression vector, introduced it by
transfection in different cells (either normal or already tumorigenic) and determined the
phenotype of these cells, as reported in the following table.

Morphology of cells .
Boo constructs Transfected normal cells Transfected tumor cells

None Normal Tumorigenic

Wild type Normal Normal
Mutation 1 Tumorigenic Tumorigenic
Mutation 2 Normal Tumorigenic
Mutation 3 Tumorigenic Tumorigenic

Based on the properties of these transfected cells, which one of the following statements
is in complete agreement with Dr. S.Carry’s results.
a) The Boo gene is an oncogene.
b) Mutations 1 and 3 of the Boo gene changed the tumor suppressive function of the
Boo protein into an oncogenic protein.
c) Mutations 1 and 3 of the Boo gene just inactivate the function of the Boo protein.
Biology 202 BASIC GENETICS Final Examination 2007 VERSION # 1 - 21 -

d) Mutation 2 of the Boo gene has no effect on the function of the Boo protein.
e) Mutations 1 and 3 of the Boo gene changed the oncogenic function of the Boo
protein into a tumor suppressor protein.

answer is “b”
Biology 202 BASIC GENETICS Final Examination 2007 VERSION # 1 - 22 -