Human Genetics and Medicine - BIOL 272 FINAL EXAM -
May 20, 2010 NAME:
DO NOT USE ANY OTHER PAPER AT ANY TIME WITHOUT INSTRUCTOR PERMISSION
bonus: Write a question that you studied for, and forgetful me, I
neglected to ask. Answer your question. PLEASE ask yourself
something you can answer well! PLEASE answer the question you
actually ask. [up to 5 points awarded based on question &
answer]
Part I: [60 points] Choose the one BEST answer. Circle its
letter. Read each question and all 5 choices carefully because more
than one answer might seem correct at first glance. 1
point each
1. The stages of polymerization are (in order)
a. initiation, polymerization, termination
b. initiation, elongation, termination
c. elongation is the only step that is always
required; other processes may or may not occur
d. replication, transcription, translation
e. monomer, dimer, polymer
2. A paleontologist recovered a bit of tissue from the preserved
skin of an extinct dodo. In order to compare its DNA to that of a
living bird, the following technique would be used to increase the
amount of dodo DNA available for testing
a. RFLP (restriction fragment length
polymorphism) analysis
b. polymerase chain reaction, PCR
c. electroporation
d. gel electrophoresis
e. Southern hybridization
3. Select the one that does not belong
a. IgA
b. IgB
c. IgG
d. IgD
e. IgE
4. A locus is a
a. chromosome
b. gene
c. allele
d. position on a chromosome
e. base pair
5. A gene determines an individual's potential to develop a
particular phenotype. This potential may be affected by
a. other genes
b. environment
c. evolution
d. a and b
e. all of the above
6. Regarding B lymphocytes and antibodies, select the FALSE
statement:
a. once the B cell binds an antigen, it starts
to clone itself and produce a lot of the correct antibody
b. once the antibody binds an antigen, the
antibody’s DNA sequence changes
c. some of the cloned B cells stay in the
blood while some other cells become plasma cells
d. some of the cloned cells are called memory
cells and survive for years
e. antibodies are like
keys: all similar in structure and function, however, there are slight
differences that make them very specific
7. The most detailed genetic map is
a. cytogenetic
b. linkage
c. physical
d. sequence
e. metaphysical
8. Which of the following does NOT correctly describe the human
genome?
a. ~ 46 miles of DNA in the haploid genome
b. 46 chromosomes
c. 22 pairs of homologous chromosomes + X + Y
d. ~ 20,000 - 100,000 genes (depending on who
is counting)
e. 23 pairs of chromosomes
9. All of the following are crucial for successful gene
expression EXCEPT
a. transcription
b. translation
c. folding of the protein into
active/non-active 3-D forms
d. transcription factors
e. all are important in successful expression
of a gene
10. To make a cDNA library, one first extracts (typically)
a. proteins
b. rRNA
c. mRNA
d. enzymes
e. tRNA
11. The process of _____ is the source of new alleles
a. selection
b. mutation
c. polarity
d. meiosis
e. crossing over
12. Mitochondrial DNA is useful for evolutionary studies because
it
a. is inherited only through the female
parent, so relationship trees can be easily constructed
b. is inserted into the X chromosome
c. first appeared in humans and is not found
in other animals
d. evolves more slowly than the genes in the
nucleus
e. was derived from the globin genes as an
extra copy
13. DNA can be inserted into animal cells to create transgenic
animals using
a. electroporation
b. microinjection
c. particle bombardment
d. liposomes that carry DNA into calls as
plasma membranes envelop them
e. all of the above
14. A description of an individual's alleles is called its
a. phenotype
b. genotype
c. DNA
d. RNA
e. genome
15. Common methods used in human genetic analysis include all of the
following EXCEPT
a. pedigree analysis
b. karyotyping
c. RFLP analysis
d. test cross
e. somatic cell genetics
16. Gene activity must be regulated because
a. different cells require different products
b. all cells in an organism carry the same
genes but may do different jobs
c. genes activity must be able to vary as the
environment changes
d. a and b
e. all of the above
17. During the gene transfer process, a probe is used for
a. cleaving DNA
b. recombining DNA
c. cloning cells
d. screening
e. transferring cells from one place to another
18. Chromosomal and linkage maps are generated using
a. family data
b. RFLP's
c. positional cloning
d. all of the above
e. none of the above are feasible with humans
19. What makes biotechnology possible? (Remember to choose the
best possible answer)
a. patents
b. PCR
c. the universality of the genetic code
d. mosaic organisms
e. transgenic animals
20. Germline gene therapy and somatic gene therapy differ in that
a. germline therapy alters
the DNA of a gamete or fertilized ovum; somatic gene therapy corrects
non-gametic cells only
b. germline gene therapy
affects all of the cells of the individual; somatic gene therapy
targets a specific population of cells
c. germline gene therapy is heritable; somatic
gene therapy is non-heritable
d. a and b
e. all of the above
21. New alleles formed by mutation(s) may result in
a. no function
b. new function (a protein with an altered, or
new function)
c. less function
d. no change in function
e. all of the above
f. none of the above
22. Which of the following does not describe polymerase chain
reaction, PCR, correctly?
a. relatively fast, inexpensive and can
produce a lot in an analysis sense fairly quickly
b. consists of 3 basic steps: denaturation,
annealing and extension
c. replicates a sequence millions-fold, but
not enough for pharmaceutical amounts of it
d. is performed in a thermal cycler
e. none of the above - all of the above are
correct describing PCR
23. Prokaryotes produce and use
a. mRNA
b. tRNA
c. rRNA
d. a and b
e. all of the above
24. A human cell containing 46 autosomes and a Y chromosome is
a(n)
a. normal male somatic cell
b. normal female somatic cell
c. normal sperm
d. normal ovum
e. abnormal female somatic cell
f. abnormal male somatic cell
25. Amniocentesis and chorionic villus sampling are both
techniques used to
a. karyotype a fetus
b. determine the sex of a fetus
c. look for chromosomal aberrations
d. perform biochemical studies
e. all of the above
26. A geneticist isolated a gene for a specific trait under study
and the corresponding mRNA but the mRNA is found to contain 1,000 fewer
bases than the DNA sequence. Was there an error?
a. yes, mRNA is made from a DNA template and
should be the same length as the gene sequence
b. yes, the mRNA should be longer than the DNA
because bases flanking the gene are transcribed
c. no, the final mRNA contains only exons, the
introns were removed
d. no, the mRNA was partially degraded after
it was transcribed
e. yes, eukaryotes do not produce mRNA
sequences
27. Single-stranded DNA extracted from human cells is added to
single-stranded DNA from chimpanzee cells. The two different DNA
strands bind tightly to each other, indicating much similarity in base
sequences. This technique is called
a. DNA hybridization
b. DNA sequencing
c. DNA electrophoresis
d. DNA transcription
e. other:
28. RNA is much less stable than DNA
a. so, in order to keep having the RNA
present, it must be made constantly
b. some RNA is less unstable, such as tRNA and
rRNA which have extensive internal base pairing
c. as an unfortunate consequence of its
structure; this presents a real problem for cells
d. a and b
e. all of the above
29. A clone is a
a. bacterial colony
b. all the offspring of a single set of parents
c. a group of genetically identical cells or
organisms
d. a school of identical fish
e. all of the above are examples of clones
30. If a DNA sequence is known, one can infer the:
a. RNA encoded sequence
b. polypeptide's amino acid sequence
c. polypeptide function
d. a and b
e. none of the above
31. Attempting to correct certain genetic disorders through
manipulating cellular DNA is called
a. karyotype analysis
b. risk assessment
c. genomics
d. gene therapy
e. replica plating
32. A selectable marker could be
a. a gene encoding an enzyme required to use a
specific nutrient
b. a gene conferring resistance to an
antibiotic
c. any identifiable DNA
d. a and b
e. all of the above
33. Advantages of using DNA microarrays to screen for single
nucleotide mutations include
a. hundreds of thousands of experiments can be
done at the same time
b. whole cells can be used for DNA template
c. no probes are necessary
d. PCR is not necessary
e. microarrays can be read visually
34. Eukaryotes produce and use
a. mRNA
b. tRNA
c. rRNA
d. a and b
e. all of the above
35. Prospective parents might choose to perform genetic testing on an
unborn child to
a. abort the pregnancy if the child has a
lethal disorder
b. be prepared for what is to come
c. possibly save the child with possible cures
in vitro or at early stages of life
d. a and b
e. all of the above
36. In x-linked recessive disorders
a. more males than females show the phenotype
under study
b. all of the offspring of an affected male
are affected
c. all of the sons of an affected male will
pass the condition to their offspring
d. if the recessive allele is rare, almost all
the persons showing the phenotype are female
e. only females can transmit the allele; only
males can express it
37. A genetic map shows
a. the relative distance between genes on
chromosomes
b. the location of genes on chromosomes
c. the genetic component of key phenotypic
traits
d. a and b
e. all of the above
38. Which of the following cells or tissues is typically used for
karyotypes?
a. amniotic cells (in amniotic fluid --
amniocentesis)
b. chorionic villus cells (chorionic villus sampling)
c. white blood cells
d. a and b
e. all of the above
39. Specific immunity is controlled by two classes of lymphocytes
called
a. agglutinogens and agglutinins
b. antigens and antibodies
c. T cells and B cells
d. red blood cells and white blood cells
e. none of the above
40. Humans produce and use
a. mRNA
b. tRNA
c. rRNA
d. a and b
e. all of the above
41. Types of cell that can result from attempt to introduce a DNA
molecule into a bacteria cell include cells
a. that do not contain plasmids
b. with plasmids that contain foreign genes
c. with plasmids that do not contain foreign
genes
d. a and b
e. all of the above
42. In order to find the desired cells after an experiment such
as described above one would probably use
a. selection
b. replica plating
c. special growth media lacking specific
nutrients and/or containing antibiotics
d. a and b
e. all of the above
43. The DNA used in such an experiment would probably be
a. a plasmid
b. a vector
c. an episome
d. a and b
e. all of the above
44. Karyotype analysis can determine all of the following EXCEPT
a. gender
b. trisomy
c. monosomy
d. presence of a recessive allele
e. loss of a piece of a chromosome
45. One of the most useful methods for identifying a specific
gene is
a. thin layer chromatography
b. the Eastern blot
c. the Southern blot
d. magnetic resonance imaging
e. the Western blot
46. Which of the following is important for regulation of gene
expression?
a. transcription of mRNA
b. translation of mRNA
c. degradation of mRNA
d. transport of mRNA
e. all of the above
47. An allele that is expressed whenever it is present in a
genome is called
a. recessive
b. dominant
c. an example of the "doctrine of use and
disuse"
d. epigenesis
e. wild type
48. Middle repetitive DNA sequences include coding sequences for
a. certain mRNAs
b. tRNAs
c. rRNAs
d. a and b
e. all of the above
49. Tissue-specific transcription appears to depend upon
tissue-specific
a. non-histone chromosomal proteins
b. RNA polymerase
c. histones
d. nucleosomes
e. DNA
50. Mapping of human chromosomes
a. has been restricted to the sex chromosomes
because of small family sizes
b. proceeded much more successfully as large
numbers of DNA markers became available
c. has determined that the number of linkage
groups is about twice the number of chromosomes
d. has demonstrated that almost all of the DNA
is involved in coding for genes
e. has shown that there are more genes on the
Y than on the X chromosome
51. A plasmid is a(n)
a. extra chromosomal circular, double-stranded
DNA molecule that replicates autonomously
b. episome
c. F-factor in E.coli
d. DNA found in prokaryotes but not eukaryotes
e. DNA found in cytoplasm but not in nuclei
52. Germline therapy might be considered to be a threat to
evolution because it
a. can predict the future
b. is heritable
c. alters surrounding individuals
d. is associated with illness
e. corrects only the affected cells
53. If an amino acid sequence is known, one can infer the:
a. DNA coding sequence
b. RNA coding sequence
c. polypeptide function
d. a and b
e. none of the above
54. Large quantities of useful products can be produced through
genetic engineering involving
a. bacteria containing recombinant plasmids
b. yeast carrying foreign genes
c. transgenic plants
d. mammals producing substances in their milk
e. all of the above
55. Most eukaryotic messenger RNAs are
a. encoded by single or low copy number
sequences
b. transcribed by RNA pol II
c. transcribed in all cells
d. a and b
e. all of the above
56. In humans,
a. a man always passes his X chromosome to his
daughters
b. a man always passes his Y chromosome to his
sons
c. a woman always passes an X chromosome to
her sons
d. all of the above
e. none of the above are always true
57. Gel electrophoresis separates
a. nucleic acids
b. polypeptides
c. on the basis of molecular weight
d. on the basis of relative charge
e. any of the above may be true
58. PCR is a technique that
a. was used to demonstrate DNA as the genetic
material
b. is used to determine the content of
minerals in a soil sample
c. uses short DNA primers
and a thermostable DNA polymerase to replicate specific DNA sequences
in vitro
d. measures the ribosome transfer rate during
translation
e. detects the level of polymerases involved
in replication
59. The “sticky ends” generated by restriction enzymes allow
a. selection for plasmids lacking antibiotic
resistance
b. easy identification of plasmids which carry
an insert
c. pieces of DNA from different sources to
hybridize to each other and then to be joined together
d. insertion of centromeres into ribosomes
lacking them
e. replication of transfer RNA within the
bacterial cell
60. A genetic marker
a. is used only for mapping analysis
b. is any gene
c. is any DNA sequence which can be recognized
d. is any gene which results in a recognizable
phenotype
e. can be found only in eukaryotes
Part II: [10 points]. How do we manage to map genes without
planned mating experiments ? Why do we want to map human genes? What
type of genes would you want to support people studying, what for, and
why?
Part III: [30 points] to be completed after class discussion after
turning in Part I. So, the sooner everyone turns in Parts I and
II, the sooner we move along.
Many approaches have been developed, and are being developed to study,
assess, diagnose, screen for, manipulate, intervene in the progression
of, ameliorate, and cure genetic disorders and disorders or diseases
with a genetic component. Some approaches are more likely to be
successful with disorders of one type than another. For each of the
following pairs of disorder types, decide which would be a better
candidate for the particular stated investigative or interventive
approach.
Make your decision, and explain it, consider both the particulars of
the approach and the disorder as you predict the likelihood of success.
Take into account with regard to the approach (do not hesitate to
consider other characteristics as well)
▸ the goal
▸ its limitations
▸ what one must know for its successful application
1. Government mandated and funded screening using a specific gene
probe for a specific sequence:
a relatively uncommon disorder that causes severe
disability or mental insufficiency and for which there is no successful
treatment except if started very early, before the onset of symptoms –
or –
a relatively common disorder that can be reasonably well managed but
only with a fairly restrictive diet
• describe the technique(s) most likely to be used
successfully for this purpose
• would you support such a program; explain under
what circumstances you would or would not
• what are the costs to society of having these
people left untreated?
2. gene therapy using a “shotgun” approach to insert a correct
gene into a person by administering DNA directly:
A disorder caused by an allele that
(a)encodes an abnormal product – or – (b) fails to encode a required
product
• describe the technique(s) most likely to be used
successfully for this purpose
• explain which this would be more useful and
effective for
3. Consider a lethal mutation that results in an unpleasant life
and the need for a great deal of care, for the years that the person
survives. Would you recommend (a) or (b)?
• describe the technique(s) most likely to be used
successfully for this purpose
• explain clearly why you selected approach (a) or (b)
a. gene therapy by
inserting a correct gene into a collection of a person’s cells (that
is, the cells have been taken out of the person for gene insertion in
the lab), then re-introducing the cells into the person
b. gene therapy by
inserting a correct gene into a fertilized egg in vitro, then
implanting the engineered embryo into the mother (or surrogate) Human
Genetics and Medicine - BIOL 272 FINAL EXAM - May 20,
2010 NAME:
Part III: [30 points] Open book, open computer, open forum - please
discuss this among yourselves.
Many approaches have been developed, and are being developed to study,
assess, diagnose, screen for, manipulate, intervene in the progression
of, ameliorate, and cure genetic disorders and disorders or diseases
with a genetic component. Some approaches are more likely to be
successful with disorders of one type than another. For each of the
following pairs of disorder types, decide which would be a better
candidate for the particular stated investigative or interventive
approach.
Make your decision, and explain it, consider both the particulars of
the approach and the disorder as you predict the likelihood of success.
Take into account with regard to the approach (do not hesitate to
consider other characteristics as well)
▸ the goal
▸ its limitations
▸ what one must know for its successful application
1. Government mandated and funded screening using a specific gene
probe for a specific sequence:
a relatively uncommon disorder that causes severe
disability or mental insufficiency and for which there is no successful
treatment except if started very early, before the onset of symptoms –
or –
a relatively common disorder that can be reasonably well managed but
only with a fairly restrictive diet
• describe the technique(s) most likely to be used
successfully for this purpose
• would you support such a program; explain under
what circumstances you would or would not
• what are the costs to society of having these
people left untreated?
2. gene therapy using a “shotgun” approach to insert a correct
gene into a person by administering DNA directly:
A disorder caused by an allele that
(a)encodes an abnormal product – or – (b) fails to encode a required
product
• describe the technique(s) most likely to be used
successfully for this purpose
• explain which this would be more useful and
effective for
3. Consider a lethal mutation that results in an unpleasant life
and the need for a great deal of care, for the years that the person
survives. Would you recommend (a) or (b)?
• describe the technique(s) most likely to be used
successfully for this purpose
• explain clearly why you selected approach (a) or (b)
a. gene therapy by
inserting a correct gene into a collection of a person’s cells (that
is, the cells have been taken out of the person for gene insertion in
the lab), then re-introducing the cells into the person
b. gene therapy by
inserting a correct gene into a fertilized egg in vitro, then
implanting the engineered embryo into the mother (or surrogate)