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1) J im Fixx was a long-distance runner who promoted running in the 1970s.

His father died of a heart


attack at age 43. At 35, J im stopped smoking, lost weight and started running. Jim died of a heart
attack at age 52. Which of the following models best describes his life and death?

a) Developmental noise.
b) Genetic determination alone.
c) Environmental determination alone.
d) Norm of reaction.
e) Environmental and genetic interaction.


2) Fifty null alleles of an intronless gene are examined, and all mutant sites are found to cluster in the
central one-third portion of the coding region of the gene. Which of the following concerning this
finding is correct?

a) There would be no point in performing a western blot with an antibody that recognized the N-
terminal end of the mutant proteins to analyse this mutant.
b) It is likely that the central portion of the gene codes for amino acid sequences that are essential
for the function of the protein.
c) Mutations in which a stop codon was introduced, would definitely be detected in the central
portion of all fifty mutant alleles.
d) If Northern blots were performed on RNA extracted from each mutant cell type with a probe
complementary to the wild-type RNA, no bands would be observed.
e) Introns are needed for the expression of the gene product, this explains why these alleles are null.


3) DNA of a human male is extracted from somatic cells harvested during G1 of the cell cycle. If
powerful electrophoresis was used to separate the DNA on a gel, how many bands would be
observed?

a) 46
b) 23
c) 24
d) 92
e) 184


4) Which of the following concerning variation is correct?

a) Albinism is an example of a trait that exhibits continuous variation.
b) In continuous variation, genetic and environmental variations contribute to the phenotype.
c) Discontinuous variation is generally observed when several genes contribute to a specific
phenotype.
d) With polymorphic traits, individuals with a specific genotype usually have a selective advantage
over those with another genotype.
e) A difference in the number of eye facets observed in the eyes of a single fruit fly is an example of
discontinous variation.




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Answers at the bottom

5) A centromere is positioned on a chromosome such that the p arm is smaller than the q arm. This is an
example of what type of chromosome?

a) Betacentric
b) Metacentric
c) Eurocentric
d) Acrocentric
e) Haplocentric


6) Normal mitosis takes place in a diploid cell of genotype A/a ; B/b. Which of the following genotypes
would be present in the daughter cells?

a) A/A ; B/B or A/a ; B/b or a/a ; b
b) A ; b only
c) A ; B only
d) A/a ; B/b only
e) A ; B or a ; b or A ; b or a ; B


7) Which of the following events takes place during anaphase of mitosis?

a) Kinetochore microtubules depolymerize, and daughter chromosomes move to opposite poles.
b) The DNA in chromosomes replicates.
c) The nuclear membrane reforms and surrounds the daughter chromosomes.
d) The centrioles divide and each sends out spindles that attach to the kinetochores.
e) Bivalents, attached to kinetochore microtubules, move to opposite poles of the cell.


8) Cells at which stage of the cell cycle are used for the preparation of karyotypes?

a) interphase
b) anaphase
c) metaphase
d) prophase
e) telophase


9) Which of the following concerning euchromatin is correct?

a) Euchromatin is found in greater amounts during mitosis in comparison to interphase.
b) Euchromatin consists of naked DNA with no associated proteins.
c) Centromeric DNA is largely comprised of euchromatin.
d) Euchromatin is found in regions where very little transcription is observed.
e) Euchromatin stains more lightly with Giemsa stain in comparison to heterochromatin.





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10) State the number of double-stranded DNA molecules that would be observed in a normal human cell
during metaphase I of meiosis.

a) 2
b) 23
c) 46
d) 92
e) 184


11) Which of the following concerning human gametogenesis is correct?

a) Spermatids have completed meiosis and are haploid.
b) Secondary spermatocytes enter meiosis I.
c) Secondary oocytes complete meiosis II before fertilization.
d) Oogonia are haploid.
e) In females, oocyte development is arrested in metaphase II at birth.


12) F2 plants segregate 3/4 coloured : 1/4 colourless. If a coloured plant (from the F2) is picked at
random and selfed, what is the probablility that both coloured and colourless plants will be seen
among a large number of its progeny?

a) 1/2
b) 1/3
c) 2/3
d) 3/4
e) 1/4


13) A plant of the genotype Y/Y ; r/r is crossed to y/y ; R/R. The resulting F1 is crossed to y/y ; r/r. What
would be the percentage of Y/y ; R/r progeny?

a) 50%
b) 25%
c) 100%
d) 75%
e) 0%


14) Which of the following is NOT a concept that could be deduced from Mendels experiments with
garden peas?

a) Hereditary factors exist in pairs, with one pair for each characteristic.
b) Gametes carry two members of each pair of hereditary factors.
c) Differences in alternative traits are due to differences in discrete hereditary factors.
d) Male and female gametes fuse randomly to generate offspring.
e) Discrete hereditary factors determining two characteristics assort independently in offspring.



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15) Yellow seed colour in garden peas (Y) is dominant to green seed colour (y), while tall (T) garden peas
are dominant to short garden peas (t). Both are autosomal and assort independently. A cross of the
parents: female (yellow, tall) X male (green, short) gave the following progeny:
81 yellow and tall
82 green and tall

What is the genotype of the female parent?

a) Y/Y ; T/T
b) Y/Y ; T/t
c) Y/y ; T/t
d) Y/y ; T/T
e) y/y ; t/t


16) Red-flowered (R/R) x white-flowered (r/r) garden peas were crossed. The resulting F1 generation was
selfed, and in the F
2
generation, 70 plants with red flowers and 30 with white flowers were observed.
Which of the following is the X
2
value that would be calculated to test whether these observations
follow the usual pattern of Mendelian inheritance.

a) X
2
=0.66
b) X
2
=1.66
c) X
2
=0.33
d) X
2
=0
e) X
2
=1.33


17) The following shows a portion of a X
2
table. Use this table and the X
2
value you calculated in question
(16). What is a reasonable conclusion that you can make about the data provided in question (16)?
Assume 1 degree of freedom.



a) Since P >0.05, the hypothesis that the values follow the expected ratio is accepted.
b) Since P <0.05, the hypothesis that the values follow the expected ratio is rejected.
c) Since P >0.05, the hypothesis that the values follow the expected ratio is rejected.
d) Since P <0.05, the hypothesis that the values follow the expected ratio is accepted.
e) None of the above.









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18) The allele c causes albinism in a certain strain of mice (C causes the mice to be black). If the cross is
made C/c x c/c, and there are 5 progeny, what is the probability that they are all black?

a) 1/2
b) 1/32
c) 1/16
d) 1/4
e) 1/8


19) A researcher studied 3 independently assorting genes in a plant. Each gene has a dominant and a
recessive allele: R black stem, r red stem; D tall plant, d dwarf plant; W purple flower, w white
flower. From the cross R/r ; D/d ; W/w x R/r ; d/d ; w/w, how many phenotypes are possible in the
progeny?

a) 27
b) 9
c) 8
d) 4
e) 3


20) The following symbol is used in drawing pedigrees. What does this symbol mean?



a) Monozygotic twins.
b) Dizygotic twins.
c) A consanguineous marriage.
d) The propositus.
e) Two individuals affected by disease.


21) What is the most likely pattern of inheritance for the following pedigree?



a) Autosomal dominant
b) Autosomal recessive
c) X-linked dominant
d) X-linked recessive
e) Cytoplasmic


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22) Assume that the condition shown in the pedigree in question (21) is caused by a mutation that is rare.
What is the probability of the affected man in generation III having a child who is also affected by
this condition if he has a child with a woman with a wild-type genotype?

a) 100%
b) 75%
c) 50%
d) 25%
e) 0%


23) A couple are both heterozygous for the autosomal recessive allele for sickle cell anemia. They have
two children. What is the probability that both children will be homozygous for the wild-type allele or
will both have sickle cell anemia (i.e. homozygous for the mutant allele)?

a) 1/2
b) 1/16
c) 5/8
d) 1/4
e) 1/8


24) An individual has a trait that is caused by a mutation in a gene on the Y chromosome. Which of the
following would be observed if he had children?

a) All his sons would have the trait, but his daughters would be unaffected.
b) All his sons would have the trait, and all his daughters would be carriers of the trait.
c) All his daughters would have the trait, but his sons would be unaffected.
d) All his daughters and all his sons would be carriers of the trait.
e) 50% of his sons would have the trait, and his daughters would be unaffected.


25) The loci for genes A and B are 20 m.u. apart. If a plant of the genotype: A B ; a b was selfed, what
would be the proportion of the progeny with a A B / A B genotype? Assume that there is no
interference.

a) 0.16
b) 0.04
c) 0.40
d) 0.80
e) 0.20









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26) Drosophila females heterozygous for three recessive alleles a, b, c were crossed to males homozygous
for all three mutations. The cross yielded the following results. Which is the correct order of the
genes?


Phenotype Number
+++ 317
++c 58
+ b + 10
+b c 2
a ++ 0
a + c 21
a b + 72
a b c 203
total 683











a) acb
b) bac
c) abc
d) bca or cba
e) Cannot be determined


27) Use the information supplied in question (26). Which of the following is the best estimate of the
distance between a and c?

a) 4.8 m.u.
b) 25.1 m.u.
c) 19.3 m.u.
d) 23.6 m.u.
e) 13.5 m.u.


28) Use the information supplied in question (26). What is the value for interference?

a) 0
b) 0.32
c) 1.0
d) 0.75
e) 1. 68


29) The pairwise map distances for four linked genes are as follows: A-B =20 m.u., B-C =5 m.u., C-D =
25 m.u., B-D =30 m.u., A-D =10 m.u., A-C =15 m.u. What is the order of these four genes?

a) A B C D
b) B C D A
c) C A B D
d) A C B D
e) B C A D

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30) Which of the following is correct?

a) Crossovers occur to the same extent in all regions of human chromosomes.
b) Crossovers in male Drosophila gametes are more frequent compared to females.
c) Map units give a precise indication of the physical distance between genes on chromosomes.
d) Mapping functions are used to correct for underestimates of distance due to multiple crossovers.
e) All species have the same frequency of crossovers during gametogenesis.


31) Genes a and b are sex-linked and are located 7 m.u. apart on the X chromosome of Drosophila. A
female of genotype a+ b / a b+ is mated with a wild-type male. What proportion of her daughters will
have a wild-type phenotype?

a) 0%
b) 3.5%
c) 47%
d) 93%
e) 100%


32) With no interference, a three-point testcross yields 50 double crossover progeny out of a total of 1000
offspring. What number of double crossover progeny would be observed if there was interference of
10%?

a) 50
b) 55
c) 45
d) 5
e) 10


33) Which of the following concerning X-inactivation is correct?

a) XIST RNA coats one X chromosome ensuring that the X chromosome remains active.
b) A different set of proteins may be expressed in different single cells in human females because of
X-inactivation.
c) X chromosomes are occasionally inactivated in adult human males resulting in X-linked diseases.
d) X-inactivation remains during formation of gametes (germ cells) in females.
e) The white spots observed on calico cats are the result of X inactivation of the allele that produces
orange pigment.


34) You perform a linkage analysis and get a Lod score of +3.5 for a specific marker and disease allele.
What can you conclude?

a) It is likely that the loci are linked.
b) It is unlikely that the loci are linked.
c) The score is inclusive without further analysis.
d) It is likely that the loci are unlinked.
e) None of the above.

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35) Given the following pedigree, you would like to test whether the I
A
allele is linked to the dominant
allele that is causing the disease. What is the correct way to calculate the odds ratio?


.



a) [(0.4375)
7
x (0.0625)] / (0.5)
8

b) log [(0.4375)
7
x (0.0625)] / (0.5)
8

c) (0.5)
8
/[(0.4375)
7
x (0.0625)]
d) (0.4375)
7
x (0.0625)
e) [(0.875)
7
x (0.125)] / (0.5)
8



36) Which of the following is NOT a reason why microsatellites are useful as polymorphic markers in
linkage analysis?

a) They are found in dispersed regions of the genome.
b) The number of repeats in a microsatellite varies between individuals.
c) The same primer pair can be used to PCR amplify a microsatellite marker in different individuals.
d) The same primer pair can be used to PCR amplify several microsatellite markers in the same
individual.
e) PCR products of different lengths can be detected with standard molecular biological techniques.



37) What phenotypic ratios would you expect in the children of a couple whose genotypes for the ABO
blood group are the following: I
A
/ i x I
A
/ I
B


a) 1 Type A : 1 Type B : 1 Type O
b) 2 Type A : 1 Type AB
c) 1 Type A: 1 Type B : 2 Type AB
d) 1 Type AB : 1 Type O
e) 2 Type A : 1 Type B : 1 Type AB


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38) The following noncomplementing E. coli mutants were tested for growth on four known precursors of
thymine, A-D. Which of the following pathways best explains the observations?

Precursor
Mutant A B C D Thymine
9 + - + - +
10 - - + - +
14 + + + - +
18 + + + + +
21 - - - - +

a) X A B C D thymine
b) X D B A C thymine
c) X C A B D thymine
d) Thymine C A B D
e) Thymine D B A C


39) In pleiotrophy:

a) There are many genes that control the same phenotype.
b) Not all individuals of a given genotype show the expected phenotype.
c) The extent to which a genotype is expressed in an individual is variable.
d) A mutation reverses the effect of a mutation of another gene, resulting in a wild-type phenotype.
e) An alteration in one gene can result in many diverse phenotypes.


40) Coat colour in dogs is determined by several genes. The B gene determines the colour of the pigment,
where B is black and b is brown. The C gene determines colour expression, where C/- permits colour
expression and c/c prevents colour expression. What phenotypic ratios would you expect in the F
2

generation if the F
1
were interbred and the parental cross is: B/B ; C/C X b/b ; c/c?

a) 9 black : 3 brown: 1 albino
b) 9 black : 4 brown : 1 albino
c) 9 black : 3 brown : 4 albino
d) 3 black : 3 brown : 1 albino
e) 12 black : 3 brown : 1 albino


41) Glaucoma in humans is an autosomal dominant disease with incomplete penetrance of 80%. If 100
offspring from families in which the parents were both heterozygous for the disease allele were
examined, what is the predicted number who would have or will develop glaucoma?

a) 80%
b) 75%
c) 25%
d) 60%
e) 40%

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42) In a field of thousands of pink flowers, a botanist notices three plants with white flowers. He calls
these plants white1, white2 and white3. Assume that each plant is homozygous for each mutation and
that each mutation is recessive. He crosses each plant and gets the following results:

White1 X white2 white flowers
White1 X white3 white flowers
White 2 X white 3 pink flowers

What is the most likely explanation for the findings?

a) All three plants have mutations in the same gene.
b) All three plants have mutations in different genes.
c) White1 and white2 have mutations on the same gene, white3 has a mutation in a different gene.
d) White1 and white3 have mutations on the same gene, white2 has a mutation in a different gene.
e) The botantist made a mistake, because the results he obtained are not possible.


43) Coat colour in mice is determined by several genes. The B gene determines the colour of the pigment,
where B is black and b is brown. The D gene controls the intensity of the pigment, where D/- permits
full intensity of the pigment and d/d dilutes the pigment intensity. The parental cross: B/B ; D/D
(black) X b/b ; d/d (dilute brown) yields the F
1
: B/b ; D/d (black). What phenotypic ratios would you
expect in the F
2
generation if the F
1
were interbred?

a) 9 black : 3 dilute black : 3 brown : 1 dilute brown
b) 12 black : 3 brown : 3 dilute brown
c) 9 black : 6 brown : 3 white
d) 1 black : 1 brown
e) 9 black : 3 dilute black : 4 brown


44) In a tetraploid organism, what is the maximum number of types of alleles that there could be for a
gene in a single individual?

a) 4
b) 2
c) 1
d) 8
e) 16













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45) Assume the oblong shape of a seedpod is caused by an autosomal recessive allele. Purebred plants
with oblong seedpods are crossed with purebred plants with heart-shaped seedpods. The F
1
progeny
was allowed to self and the following progeny were obtained in the F
2
:

92 heart-shaped pods
20 oblong-shaped pods

This demonstrates:

a) Dominant epistasis
b) Dominant suppression
c) Recessive supression
d) Complementary gene action
e) Recessive epistasis


46) Which of the following concerning nonsense mutations and nonsense suppressors is NOT correct?

a) For a nonsense mutation a sequence coding for a stop codon is introduced in frame into the
middle of a coding region of a gene.
b) A potential nonsense suppressor mutation might be in a gene coding for a tRNA.
c) When the mutant gene described in (b) is transcribed it would produce a tRNA capable of binding
to a stop codon.
d) For the suppression to take place, the mutant tRNA must bring the same amino acid to the
ribosome that was coded by the original, non-mutated gene described in (a).
e) Two copies of the suppressor mutation would be required for suppression of this mutation.


47) Petal colouration in foxgloves is determined by three genes. M codes for an enzyme that synthesizes
anthocyanin, the purple pigment seen in these petals; m/m produces no pigment, resulting in a
phenotype albino with yellowish spots. D is an enhancer of anthocyanin, resulting in a darker
pigment; d/d does not enhance. At the third locus, w/w allows pigment deposition in petals, but W
prevents pigment deposition, except in the spots and, so, results in a white with coloured spots
phenotype. Consider the following cross: white with dark purple spots X white with yellowish spots.
Progeny =1 dark purple, 1 light purple, 1 white with light purple spots, 1 white with dark purple
spots, 4 albino (white with yellow spots). What is the genotype of both parents?

a) M/M ; D/d; w/w and m/m ; d/d ; w/w
b) M/m ; d/d ; w/w and m/m ; d/d ; w/w
c) M/M ; D/D ; W/W and m/m ; d/d ; w/w
d) M/m ; D/d ; W/w and M/m ; D/d ; W/w
e) M/m ; D/d; W/w and m/m ; d/d ; w/w








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48) Igf2 is a gene that is maternally imprinted. Inheritance of one wild-type allele is required for normal
growth of the embryo, without it the mice are small. Scientists have generated mice in which the Igf2
gene was mutated so that it no longer codes for a functional protein. Mice heterozygous for the
mutation were mated with pure breeding wild-type mice. Which of the following observations is
correct?

a) The sex of the heterozygous mutant mice used for the cross did not have an affect on the
phenotype of the progeny.
b) Mice born from a cross of heterozygous male and wild-type female would all be of normal size.
c) Half of the mice born from a cross of heterozygous male and wild-type female will be small and
half will be of normal size.
d) Half of the mice born from a cross of heterozygous female and wild-type male will be small and
half will be of normal size.
e) All of the male mice born from a cross of heterozygous females and wild-type males will be of
normal size, while all of the female mice will be small.


49) If the region of DNA immediately upstream from the lac promoter was mutated so that the catabolite
activator protein could not bind, what would you expect to see in bacteria carrying this mutation?

a) Positive regulation of the lac operon would occur normally.
b) The lac repressor in the presence of lactose would bind to the lac operator.
c) RNA polymerase would not be able to bind to the lac promoter.
d) cAMP concentrations would be low even in the absence of glucose.
e) The bacteria would have difficulty growing in medium containing only lactose.


50) Which of the following concerning gene regulation is correct?

a) Mutation of an enhancer site for a gene may result in expression of the gene in a cell type in
which it is not normally expressed.
b) Repressors bind to DNA via a DNA-binding domain and recruit histone acetylases to the region
via a repressor domain.
c) Mutation of a cis-element that results in loss of transcription of a specific gene can be corrected
by the introduction of wild-type cis-element on any chromosome.
d) DNA that is hypermethylated exists as euchromatin and is actively transcribed.
e) Chromatin modifications that influence transcription are always erased during cell division of
somatic cells.


Marking Scheme HMB265 term test:

1. E 2. B 3. C 4. B 5. D 6. D 7. A 8. C 9. E 10. D 11. A 12. C 13. B 14. B 15. D 16. E 17. A 18. B
19. C 20. C 21. A 22. C 23. E 24. A 25. A 26. B 27. C 28. DELETED 29. E 30. D 31. E 32. C 33. B
34. A 35. A 36. D 37. E 38. B 39. E 40. C 41. D 42. E 43. A 44. A 45. C 46. E 47. E 48. C 49. E 50. A





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