Chapter 5 Review

1. Cells are arrested at which stage of the cell cycle for use in routine karyotyping?
A. Interphase
B. Prophase
C. Metaphase
D. Anaphase
E. Telophase
2. To do high resolution banding of chromosomes, what change to the procedure must be made
relative to normal G-banding?
A. Use more cells
B. Lengthen the staining procedure
C. Amplify the chromosomes
D. Use a more sensitive stain
E. Arrest the cells earlier in mitosis
3. Which of the following is the most common cause of chromosomal aneuploidy?
A. Unbalanced translocation
B. Nonhomologous recombination
C. Chromosomal nondisjunction
D. Sequence inversion
E. Meiotic arrest
4. To be stable, a rearranged chromosome must have which of the following?
A. No inverted segments
B. A centromere and two telomeres
C. A centromere
D. A balanced composition (no losses or gains of genetic material)
E. A similarly rearranged homolog in the embryo
5. From largest to smallest, put these following I to IV techniques in order in terms of the size of
the genetic abnormality each could detect.
I. Comparative genome hybridization
II. G-banding
III. Allele specific oligonucleotide hybridization
IV. Fluorescent in situ hybridization (FISH)
A. I, II, III, IV
B. II, IV, III, I
C. IV, II, III, I
D. II, IV, I, III
E. I, II, IV, III
6. What is the term used for a chromosome in which one arm is deleted and the other arm is
duplicated in a mirror image fashion?
A. Robertsonian translocation
B. Balanced translocation
C. Ring chromosome
D. Mirrored chromosome
E. Isochromosome
7. What type of chromosomal aberration is indicated by the following cytogenetic abbreviation:
46,XX, t(1;2)(q25;p23)?
A. Translocation
B. Transition
C. Transversion
D. Terminal deletion
E. Loss of telomeres
8. When two or more chromosome complements can be found within an individual, this is known
as:
A. Heterozygosity
B. Mosaicism
C. Genetic heterogeneity
D. Genomic duplication
E. Trisomy
9. Which term is used to describe differences in gene expression based on the parent of origin of
an allele?
A. Parental determination
B. Sex-determination
C. Imprinting
D. Sex-linked dominance
E. Heterodisomy
10. Which of the following are possible causes of Angelman syndrome?
A. Uniparental disomy for chromosome 15
B. A maternal deletion on chromosome 15q
C. Defects in the imprinting center at chromosome 15q
D. A mutation in the gene for E6-AP ubiquitin protein ligase
E. All of the above

Chapter 6 Review
1. What are the three trisomies for complete autosomes that are well-defined and compatible
with postnatal survival?
A. Trisomy 12, 13, 21
B. Trisomy 13, 15, 18
C. Trisomy 11, 13, 18
D. Trisomy 13, 15, 21
E. Trisomy 13, 18, 21
2. Which of the following is the most common meiotic error resulting in Down syndrome?
A. Nondisjunction during maternal meiosis I
B. Nondisjunction during maternal meiosis II
C. Nondisjunction during paternal meiosis I
D. Nondisjunction during paternal meiosis II
E. These are equally likely possibilities
3. Which of the following terms is used to describe a syndrome with a phenotype that is caused by
deletion of multiple, neighboring genes?
A. Multifactorial disorders
B. Haploinsufficiency syndrome
C. Multifactored deficiency syndrome
D. Contiguous gene syndrome
E. Monosomy
4. The Y chromosome undergoes recombination with which chromosome?
A. It recombines along the length of the X chromosome
B. It recombines with a specific region of the X chromosome
C. It only recombines when there is a Y chromosomal duplication
D. It often exhibits nonhomologous recombination with autosomes
E. It does not undergo recombination
5. In females with a 47, XXX karyotype, how many of the X chromosomes are active?
A. 1
B. 2
C. 3
D. This is not a viable karyotype
E. This varies on a case-by-case basis

Chapter 7 Review
1. Which of the following terms refers to a set of alleles that is inherited together on a
chromosome?
A. Linkage disequilibrium
B. Chromatid
C. Haplotype
D. Epistatic alleles
E. Genotype
2. What degree of relationship to each other are half-siblings?
A. First
B. Second
C. Third
D. Fourth
E. Fifth
3. What is the term used to describe the patient who first brings a family to a geneticists
attention?
A. Consultand
B. Primary case
C. Proband
D. Referral case
E. Any of the above
4. When a set of parents has a child affected by an autosomal recessive disorder, the most likely
recurrence risk is:
A. 100%
B. 50%
C. 33%
D. 25%
E. 12.5%
5. If an uncle has children with his niece, which of the following genetic terms is used to describe
this relationship?
A. Interrelatedness
B. Recessivity
C. Inbreeding loop
D. Pedigree inversion
E. Consanguinity
6. For an autosomal dominant disease, if two affected parents have a child, what is most likely the
risk of passing on the disorder?
A. 0
B. 25%
C. 50%
D. 75%
E. 100%
7. What is the risk for hemophilia A in the grandsons if their paternal grandfather is a
hemophiliac?
A. 0
B. 1/8
C. 1/4
D. 1/2
E. 100%
8. A process that can greatly affect the presentation of an X-linked phenotype in carrier females is:
A. Interfering mutations
B. X-inactivation
C. Mitochondrial expression
D. Recombination between X homologues
E. Mutation repair between homologues
9. Which of the following is a likely explanation that a male could survive an X-linked dominant,
male lethal disorder?
A. He could have a mutation reversion
B. He could have a compensating mutation
C. He could be 47, XXY
D. There is recombination between the X and Y chromosome
E. Any of the above is likely
10. In certain proteins, expansion of a tract of which amino acid is associated with various genetic
forms of progressive neurodegeneration?
A. Alanine
B. Proline
C. Valine
D. Methionine
E. Glutamine
11. Trinucleotide repeat alleles that are not associated with the disease phenotype but that can
expand during meiosis are known as:
A. Permutations
B. Pseudo-disease alleles
C. Pre-expansions
D. Expansion-prone alleles
E. Unstable alleles
12. Genetic anticipation is associated with:
A. More mutated mitochondria being passed from the mother in later generations
B. An increased age of onset in later generations
C. Toxic metabolites being passed to the fetus in an affected mother
D. Trinucleotide repeat instability
E. Threshold of expression of mutations
13. Which of the following are true about mitochondrial inheritance?
A. There is heteroplasmy
B. The mitochondria segregate randomly as cells divide
C. Mitochondria are maternally inherited
D. There are approximately 1000 mitochondrial DNA (mtDNA) molecules per cell
E. All of the above
14. What genetic force leads to the variability in the percentage of mutant mtDNA molecules that
are present in the children of a mother who exhibits heteroplasmy for the mutation?
A. Positive selection
B. Negative selection
C. Genetic bottleneck
D. Reduced fitness
E. Balancing selection
15. Which type of mitochondrial mutation is NOT passed from an affected mother to her child
when the mother exhibits heteroplasmy for the mutation?
A. Deletion
B. Duplication
C. Missense mutation
D. Nonsense mutation
E. Repeat expansion

Chapter 8 Test
1. High blood pressure can be considered as which type of trait in a genetic study?
A. Complex
B. Quantitative
C. Qualitative
D. Multifactorial
E. Any of the above
2. Twin studies are used as a way to separate genetic effects from confounding by which of the
following factors?
A. Epigenetics
B. X inactivation
C. Heteroplasmy
D. Environment
E. Somatic mutation
3. For qualitative traits, we use concordance as a measure of heritability. What is the measure
we use for the heritability of quantitative traits?
A. Deviations from the mean in a normal distribution
B. Coefficient of correlation
C. Regression to the mean
D. Measured trait similarity
E. Difference in the trait measurements
4. The vast majority of people with type 1 diabetes share alleles surrounding which genes?
A. Insulin receptors
B. Glucose-transport protein 2 (GLUT-2)
C. Insulin genes
D. Major histocompatibility complex (MHC)
E. Phospholipase C
5. Which of the following is the first known powerful, predisposing allele for common,
late-onset Alzheimer disease?
A. Factor V Leiden
B. Prothrombin 20210 G>A
C. DQB1 57D
D. PTPN22 R620W
E. ApoE 4

Chapter9 Reivew
1. Which of the following is not a chromosome mutation?
A. Translocation
B. Aneuploidy
C. Partial duplication
D. Inversion
E. Partial deletion
2. Which of the following is a possible consequence of a nonsense mutation?
A. Dominant negative mutation
B. Truncated protein
C. No translation
D. Protein instability
E. All of the above
3. What type of mutation is the g.IVS33+2T>A?
A. Missense
B. Nonsense
C. Insertion
D. Splice site
E. Not enough information is provided
4. What type of mutation is Gln39X?
A. Missense
B. Frameshift
C. Splice site
D. Nonsense
E. Deletion
5. What type of mutation is c.1444g>a?
A. Missense
B. Frameshift
C. Nonsense
D. Splice site
E. Not enough information provided
6. A genetic polymorphism is a sequence change that is present in at least what proportion of the
general population?
A. If it is present at all
B. 1%
C. 5%
D. 10%
E. 25%
7. This type of genetic variation is detailed in the high-density map of the human genome called
the HapMap.
A. Short tandem repeats (STRs)
B. Insertion/deletion polymorphisms (Indels)
C. Single nucleotide polymorphisms (SNPs)
D. Variable number of tandem repeats (VNTR)
E. Copy number polymorphisms (CNPs)
8. Because of its high level of informativity, the Federal Bureau of Investigation (FBI) uses a set of
13 of this type of marker for identity testing.
A. STRs
B. Indels
C. SNPs
D. VNTR
E. CNPs
9. Copy number polymorphisms are generally detected using this method.
A. DNA sequencing
B. Karyotyping
C. Fluorescent in situ hybridization (FISH)
D. Array comparative genomic hybridization (CGH)
E. Southern blot
10. The O blood type is ______ the A and B blood types.
A. Dominant to
B. Recessive to
C. Codominant with
D. Inherited separately from
11. In which of the following cases would a pregnant mother need to be treated with Rh immune
globulin?
A. Mother is Rh+, Father is Rh, Baby is Rh
B. Mother is Rh+, Father is Rh, Baby is Rh+
C. Mother is Rh, Father is Rh+, Baby is Rh
D. Mother is Rh, Father is Rh+, Baby is Rh+
E. Mother is Rh+, Father is Rh+, Baby is Rh
12. A 25-year old woman needs a kidney transplant and hopes that she can get one from her sister.
What is the likelihood that her sister shares the same set of human leukocyte antigen (HLA)
haplotypes?
A. 25%
B. 33%
C. 50%
D. 66%
E. 75%
13. In addition to the risk of graft failure, incomplete HLA matching in bone marrow transplantation
is associated with a risk of which of the following complications?
A. Severe anemia
B. Leukemia
C. Graft versus host disease
D. Lymphoma
E. Severe combined immunodeficiency
14. The Hardy-Weinberg law relates genotype frequencies with which of the following?
A. Disease frequencies
B. Phenotype frequencies
C. Allele frequencies
D. Mutation frequencies
E. Either A or B
15. Which of the following is an assumption that the Hardy-Weinberg law depends on?
A. Random mating
B. There are only two alleles for a gene
C. Positive natural selection
D. Constant mutation rates
E. One allele is dominant to the other in the calculation
16. The Hardy-Weinberg law is important for genetic counseling of autosomal recessive disorders
because it allows us to calculate which of the following?
A. Recurrence risk in a family
B. Population frequency of the disorder
C. Carrier frequency
D. Whether an affected is likely to be a homozygote or compound heterozygote
E. Risk to other branches of a family
17. When a population has subgroups that tend to remain genetically separate from each other,
this is known as:
A. Population selection
B. Natural selection
C. Consanguinity
D. Population subdivisions
E. Population stratification
18. If two deaf people have children together, this deviation from random mating is known as:
A. Inbreeding
B. Population selection
C. Consanguinity
D. Population isolation
E. Assortative mating
19. Which of the following terms describes the small, random effects that cause changes to allele
frequencies in small populations?
A. Population stratification
B. Natural selection
C. Assortative mating
D. Genetic drift
E. Genetic isolation
20. Which of the following determines the likelihood that an allele will be passed to the next
generation?
A. Positive selection
B. Negative selection
C. Fitness of the allele
D. Population frequency of the allele
E. Assortative mating
21. An autosomal dominant disorder with near-zero fitness would be seen in a population as a
 result of which genetic force?
A. Positive selection
B. Balancing selection
C. Inbreeding
D. New mutation
E. Genetic drift
22. For an autosomal recessive and autosomal dominant disorder, respectively, what would be the
effect on allele frequency of improved treatment for the disorder if it originally had low fitness?
A. Allele frequency would increase in both cases
B. Allele frequency would decrease in both cases
C. Allele frequency would increase, allele frequency would decrease
D. Allele frequency would decrease, allele frequency would stay the same
E. Allele frequency would stay the same, allele frequency would increase
23. For X-linked genetic lethal diseases, in what proportion of cases are mothers at low risk of
having a second affected child?
A. 0
B. 25%
C. 33%
D. 66%
E. 75%
24. As treatment of hemophilia A improves, the proportion of cases of hemophilia caused by new
mutations would be expected to:
A. Increase
B. Decrease
C. Stay the same
D. Approach 0
E. Approach 100%
25. Which of the following favors the fitness of carriers of deleterious mutations?
A. Genetic drift
B. Gene flow
C. Heterozygote advantage
D. Inbreeding
E. Assortative mating

Chapter 16 Review
1. Which of the following cancers have a genetic basis?
A. Breast
B. Colon
C. Prostate
D. Retinoblastoma
E. All of the above
2. Which of the following types of genes promotes cell proliferation and survival and, when
mutated, can cause cancer?
A. Protooncogene
B. Oncogene
C. Tumor suppressor
D. Mismatch repair protein
E. Telomerase
3. Which of the following are types of tumor suppressors?
A. Telomerase
B. Transcription factors controlling cell growth
C. Inhibitors of apoptosis
D. Growth factor receptor tyrosine kinases
E. Cell cycle checkpoint proteins
4. Which of the following can be cancer-associated genes by virtue of their ability to directly
regulate the expression of protooncogenes and tumor suppressors, but which themselves are
noncoding?
A. Telomerase
B. Cell cycle checkpoint genes
C. Transfer RNAs (tRNAs)
D. Micro RNAs (miRNAs)
E. Ribosomal RNA (rRNAs)
5. In addition to mutations in the coding region and regulatory elements, oncogenes often arise
by which type of mutation?
A. Gene amplification
B. Nonhomologous recombination
C. Splice mutations
D. Interstitial deletions
E. Inversions
6. What makes telomerase a viable target for cancer therapies?
A. Activating this gene can help the body fight cancer
B. Activating this gene can enhance tumor suppressor capabilities
C. This gene is not expressed in most somatic cells but is activated by many cancers
D. Mutations in this gene are the precipitating event in many cancers
E. This gene is not expressed in any cells after human development is complete
7. Normally, the p53 protein responds to which of the following?
A. Cellular starvation
B. Shortened telomeres
C. DNA damage
D. Cellular contact
E. Phosphate levels
8. In addition to loss of heterozygosity, the second hit in sporadic breast cancers with breast
cancer gene 1 (BRCA1) or breast cancer gene 2 (BRCA2) mutations is often which of the
following?
A. Methylation of the BRCA1 or BRCA2 promoter
B. Acetylation of the BRCA2 or BRCA2 promoter
C. Deletion of the tumor-associated transplantation antigen (TATA) box in BRCA1 or BRCA2
D. Deletion of a BRCA1 or BRCA2 enhancer
E. Nonsense mutation in BRCA2 or BRCA2
9. Exposure to what agent is a strong environmental risk factor for hepatocellular carcinoma in
certain parts of the world?
A. Ricin
B. Colchicine
C. Aflatoxin
D. Curare
E. -amanitin
10. Which of the following infectious agents is an environmental risk factor for hepatocellular
carcinoma?
A. Epstein-Barr virus
B. Herpes simplex virus type 2
C. Varicella zoster
D. Hepatitis B
E. Hepatitis A
11. Reduced activity for which of the following proteins has been associated with decreased risk of
lung cancer due to cigarette exposure?
A. p53
B. RB
C. CYP2D6
D. FAS
E. MLH1

Chapter 17 Review
1. Which of the following determine the clinical validity of a genetic screen?
A. False positive rate
B. False negative rate
C. Positive predictive value
D. Negative predictive value
E. All of the above
2. Which of the following is a key requirement for population-based newborn screening?
A. The gene is known
B. Interventions for the disorder are available
C. It is associated with few different disease alleles
D. There is usually no family history of the disorder
E. All of the above
3. Which of the following are disorders associated with a mental retardation phenotype that can
be completely prevented with appropriate, early intervention?
A. Fragile X
B. Mowat-Wilson syndrome
C. Phenylketonuria
D. Congenital hypothyroidism
E. C and D
4. How would you describe the clinical validity and clinical utility, respectively, of population
screening for Alzheimer disease based on ApoE genotype?
A. High, low
B. Low, high
C. Low, low
D. High, high
E. Depends on the population
5. Population-based heterozygote screening for genetic disorders focuses on which individuals?
A. Those with a family history of the disorder
B. Those who identify themselves as belonging to a population with a high risk of the disorder
C. Those who are worried about their own risk for the disorder
D. Those with an affected child
E. All of the above

Chapter 18 Review
1. When prescribed medications, individuals who are ultrafast metabolizers based on their
cytochrome p450 genotype are at risk of which of the following?
A. Toxic buildup of medications
B. Underdosing of the medication
C. Hypersensitivity to a medication
D. A and C
E. B and C
2. What enzyme is largely responsible for the conversion of codeine to morphine in the body?
A. CYP2D6
B. CYP1A2
C. CYP2C19
D. CYP3A4
E. CYP1A1
3. What step in drug metabolism do the cytochromes p450 perform?
A. Addition of a sugar group
B. Addition of an acetyl group
C. Addition of a polar group
D. Removal of an acetyl group
E. Removal of a polar group
4. Variation in which gene is associated with failure of a once weekly dose of isoniazid for
tuberculosis treatment?
A. CYP2D6
B. CYP2C19
C. UGT1A1
D. NAT2
E. BCHE
5. Variation in which gene is associated with prolonged paralysis in response to anesthesia?
A. CYP2D6
B. CYP2C19
C. UGT1A1
D. NAT2
E. BCHE
6. Individuals with deficiency for which enzyme should avoid fava beans?
A. CYP2D6
B. NAT2
C. G6PD
D. RYR1
E. CYP2C9

Chapter20 Review
1. In what situation would genetic testing for an adult-onset disorder be appropriate in a child?
A. When the disorder is fatal
B. When the parents are trying to decide whether to have another child
C. When there is a clear medical benefit available for the child
D. When the disorder has a fairly early onset
E. Any of the above
2. In the practice of genetics, the duty to warn at-risk relatives can be in conflict with which
federal regulation?
A. Federal privacy act
B. Health Insurance Portability and Accountability Act (HIPAA)
C. Privacy and Electronic Communications Regulations
D. Fair Credit Reporting Act
E. The Gramm-Leach-Bliley (GLB) Act
3. When individuals conceal their increased risk for a disease from insurance companies, this is
known as:
A. Negative selection
B. Adverse selection
C. Positive skewing
D. Risk enhancement
E. Risk skewing
4. HIPAA regulations specify that which of the following cannot be excluded from health insurance
coverage as a preexisting condition?
A. A genetic disorder
B. A genetic susceptibility to a disorder in an asymptomatic individual
C. A Mendelian disorder
D. Huntington disease
E. A genetic disorder that manifests in childhood
5. The idea of improving the human species through selective breeding was known as which of
the following?
A. The genetics movement
B. The supergenic family movement
C. The eugenics movement
D. The fittest family movement
E. The Mendelian movement
6. Which of the following was carried out under laws supporting the eugenics movement?
A. Forced marriages of genetically superior couples
B. Abandonment of disabled children to orphanages
C. Involuntary sterilization of institutionalized individuals
D. A and B
E. B and C
7. Which of the following is most likely to have a dysgenic effect?
A. Medical treatment of an autosomal dominant disorder
B. Medical treatment of an autosomal recessive disorder
C. Medical treatment of a complex genetic disorder
D. Prenatal diagnosis of a genetic trait
E. Selective termination of affected pregnancies
8. Which of the following is a potential effect of reproductive compensation?
A. Increased female/male ratio
B. Increased worldwide population
C. Increased frequency of a genetic disorder
D. Decreased frequency of a genetic disorder
E. Increased family size in affected families