Genetic Counseling Review Questions
Course Introduction
Genetic Counseling is a specialized course designed to provide students with a comprehensive understanding of the principles, practices, and applications of genetic counseling in healthcare settings. The course covers core concepts such as human genetics, modes of inheritance, risk assessment, genetic testing, and the psychological, ethical, and social implications of genetic information. Students will learn effective communication and counseling techniques to assist individuals and families in understanding and adapting to the medical, psychological, and familial implications of genetic contributions to disease. The curriculum incorporates case studies, role-playing, and discussions on current topics such as prenatal screening, personalized medicine, and emerging biotechnologies, equipping students with the knowledge and skills to support informed decision-making in clinical practice.
Recommended Textbook
Emerys Elements of Medical Genetics 14th Edition by Peter Turnpenny
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24 Chapters
149 Verified Questions
149 Flashcards
Source URL: https://quizplus.com/study-set/2117
Page 2
Chapter 1: The History and Impact of Genetics in Medicine
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3 Verified Questions
3 Flashcards
Source URL: https://quizplus.com/quiz/42191
Sample Questions
Q1) Which of the following can be used to determine the potential genotypes of offspring from a simple Mendelian cross?
A) Punnett square
B) Hardy-Weinberg equilibrium
C) Bayesian analysis
D) Law of independent assortment
E) Rules of probability
Answer: A
Q2) Which of the following causes deviations from the law of independent assortment?
A) The genes of interest are on the same chromosome
B) The genes of interest are linked
C) Homologous recombination between genes
D) Nonhomologous recombination
E) Nondisjunction
Answer: B
Q3) Which of the following is generally true for genetic diseases?
A) The incidence is less than the prevalence
B) The incidence is greater than the prevalence
C) The incidence equals the prevalence
Answer: B
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Chapter 2: The Cellular and Molecular Basis of Inheritance
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16 Verified Questions
16 Flashcards
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Sample Questions
Q1) Which of the following are cis-acting elements involved in regulation of gene expression?
A) Transcription factors
B) Hormone nuclear receptors
C) Signal transduction proteins
D) miRNAs
E) Enhancers
Answer: E
Q2) Gain of function mutations exhibit which inheritance pattern?
A) Dominant
B) Recessive
C) Dominant negative
D) Any of the above
Answer: A
Q3) How many types of RNA are involved in translation?
A) 1
B) 2
C) 3
D) 4
Answer: C
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Chapter 3: Chromosomes and Cell Division
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7 Verified Questions
7 Flashcards
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Sample Questions
Q1) Which of the following can be found in normal carrier individuals?
A) Paracentric inversions
B) Translocations
C) Pericentric inversions
D) Deletions
E) All of the above
Answer: E
Q2) Due to differences in male and female meiosis,advanced paternal age effect is more likely to be associated with what type of mutation?
A) Chromosome abnormalities
B) Translocations
C) De novo dominant mutations
D) Aneuploidies
E) Fragile sites
Answer: C
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Chapter 4: Dna Technology and Applications
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3 Verified Questions
3 Flashcards
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Sample Questions
Q1) Why are dideoxynucleotides added to the reaction in the Sanger sequencing methodology?
A) They label the DNA strands
B) They cause termination of the replicating strand
C) They allow longer processivity of the DNA polymerase
D) They cement the newly synthesized strand to the template strand
E) There is a lower chance of mutation during the sequencing reaction
Q2) What is the advantage of using a VNTR over SNP as a genetic marker?
A) There are more VNTRs in the genome
B) VNTRs are less variable
C) There are generally more alleles for each VNTR than for each SNP
D) VNTRs are located within genes
E) VNTRs are more likely to be mutations rather than polymorphisms
Q3) Which type of marker is used for DNA fingerprinting?
A) SNP
B) Microsatellite
C) Indel
D) Minisatellite
E) Copy number variant
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Page 6
Chapter 5: Mapping and Identifying Genes for Monogenic Disorders
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3 Verified Questions
3 Flashcards
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Sample Questions
Q1) The human genome contains approximately how many base pairs of DNA?
A) 3 x 10
B) 3 x 10
C) 3 x 10
D) 3 x 10
E) 3 x 10¹
Q2) What supporting evidence can be used to decide whether variation in a gene is actually a mutation?
A) It is never found in people without the phenotype of interest
B) It must be in an exon
C) Additional variation is found in the same gene in other people with a similar phenotype
D) It is expressed only in a tissue relevant to the phenotype
E) All of the above
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Chapter 6: Developmental Genetics
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9 Verified Questions
9 Flashcards
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Sample Questions
Q1) Which of the following are true of DNA methylation during reproduction?
A) The sperm and egg DNA maintain their methylation patterns throughout gametogenesis
B) The sperm and egg DNA maintain their methylation patterns in the embryo
C) Methylation patterns in both the egg and sperm DNA are erased at fertilization and re-established in a single wave
D) Only the sperm DNA loses its methylation pattern after fertilization
E) A series of methylation and demethylation events occurs during gametogenesis, fertilization, and implantation in both gametes
Q2) Proteins that contain a zinc finger motif share what function?
A) Kinase
B) Phosphatase
C) Protease
D) Transcription factor
E) Inducers of apoptosis
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Chapter 7: Patterns of Inheritance
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11 Verified Questions
11 Flashcards
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Sample Questions
Q1) Maternal uniparental disomy for chromosome 15 is associated with which phenotype?
A) Prader-Willi syndrome
B) Angelman syndrome
C) Beckwith-Wiedemann syndrome
D) Russell-Silver syndrome
E) Myotonic dystrophy
Q2) Which modification distinguishes the maternal from the paternal allele in imprinted regions?
A) Phosphorylation
B) Methylation
C) Glycosylation
D) Acetylation
E) Glucosylation
Q3) Which of the following traits may exhibit holandric inheritance?
A) Baldness
B) Defects in spermatogenesis
C) Webbed toes
D) Red-green color blindness
E) All of the above
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Chapter 8: Population and Mathematical Genetics
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13 Verified Questions
13 Flashcards
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Sample Questions
Q1) Which of the following can disturb Hardy-Weinberg equilibrium?
A) Assortative mating
B) Natural selection
C) Population bottleneck
D) A small population size
E) All of the above
Q2) The incidence of cystic fibrosis in the Caucasian population is approximately 1 in 4000-what is the carrier frequency?
A) 1/16
B) 1/32
C) 1/64
D) 1/128
E) 1/1000
Q3) Which of the following is a type of association analysis that is designed to avoid issues with population stratification?
A) Case-control study
B) Transmission disequilibrium test
C) Autozygosity mapping
D) Affected sib pair method
E) NPL analysis
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Chapter 9: Polygenic and Multifactorial Inheritance
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8 Verified Questions
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Sample Questions
Q1) In a genetic association study,what does an odds ratio represent?
A) The ratio of those with a particular allele who manifest a trait versus those with the allele who do not manifest the trait
B) The risk of manifesting a trait in those with a particular allele compared to the risk of manifesting the trait in those without the allele
C) The risk of the trait in those with the major allele versus the risk in those with the minor allele
D) The genetic risk that you will have a particular trait versus the environmental risk that you will have the same trait
E) The likelihood that someone with both genetic and environmental risks will express a trait versus the likelihood when they have neither risk
Q2) Which model attempts to explain the etiology of discontinuous multifactorial traits?
A) Random segregation model
B) Hardy-Weinberg model
C) Liability threshold model
D) Additive trait model
E) Multiplicative trait model
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Chapter 10: Hemoglobin and the Hemoglobinopathies
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5 Verified Questions
5 Flashcards
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Sample Questions
Q1) The complete absence of a globin production gives rise to which phenotype?
A) Sickle cell disease
B) Hb H disease
C) b-thalassemia
D) Hydrops fetalis
E) Normal adult hemoglobin production
Q2) The HbA form of hemoglobin consists of which globin chains?
A) 1 a, 1 b
B) 2 a, 2 b
C) 2 a
D) 2 a, 2 g
E) 1 a, 1 g
Q3) Which of the following statements is true regarding the a1 and a2 globin chains?
A) They are identical at the nucleotide and amino acid sequence level
B) They differ at the nucleotide level but are identical at the amino acid level
C) a1 pairs only with b1, and a2 pairs only with b2
D) a1 is expressed in the fetus, and a2 is expressed after birth
E) a2 is a pseudogene of a1
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Chapter 11: Biochemical Genetics
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9 Verified Questions
9 Flashcards
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Sample Questions
Q1) Deficiency for what enzyme is the most common cause of female genital virilization?
A) 11b-hydroxylase
B) Desmolase
C) 3b-hydroxysteroid dehydrogenase
D) 5a-reductase
E) 21-hydroxylase
Q2) For which of the following disorders would prenatal genetic diagnosis be particularly difficult?
A) Cystic fibrosis
B) Down syndrome
C) Lesch-Nyhan syndrome
D) MERRF
E) Tay-Sachs disease
Q3) How does MCAD deficiency usually present?
A) In adulthood, with myopathy
B) In early childhood, after an illness that leads to fasting
C) In childhood, with progressive vision loss
D) In early adulthood, with a thrombotic event
E) Any of the above
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Page 13
Chapter 12: Pharmacogenetics
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4 Verified Questions
4 Flashcards
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Sample Questions
Q1) For the most effective use of Herceptin in breast cancer treatment,molecular testing for which of the following proteins should be performed before the drug is prescribed?
A) BRCA1
B) BRCA2
C) HER2
D) EGFR
E) MTHFR
Q2) What would you predict about the genes involved in a drug's metabolism if you see a discontinuous dose-response curve in a population?
A) One gene is mainly responsible for the metabolism
B) The number of genes involved in the metabolism is equal to the number of peaks in the response curve
C) There are multiple genes involved in the metabolism, but this would not tell you how many
D) There is a threshold for induction of the gene involved in the metabolism
E) A dose-response curve provides no information on the genetics of drug metabolism
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Chapter 13: Immunogenetics
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3 Verified Questions
3 Flashcards
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Sample Questions
Q1) For which of the following tissues is homograft rejection not an issue?
A) Bone marrow
B) Liver
C) Kidney
D) Heart
E) Cornea
Q2) Deficiency for which of the following causes severe combined immunodeficiency syndrome?
A) Rhesus factor
B) Adenosine deaminase
C) WAS
D) CD69
E) CYP21
Q3) Which of the following processes is involved in immunoglobulin gene rearrangement?
A) Meiotic recombination
B) Somatic recombination
C) Nonhomologous end joining
D) Gene synapsis
E) Diakinesis
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Chapter 14: Cancer Genetics
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8 Verified Questions
8 Flashcards
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Sample Questions
Q1) Which of the following classes of proteins are likely to be encoded by proto-oncogenes?
A) Mismatch repair proteins
B) Apoptosis inducing proteins
C) Negative regulators of the cell cycle
D) Growth factor receptors
E) Proteins involved in homologous recombination
Q2) Following a first mutation in a tumor suppressor gene,which of the following is commonly associated with the "second hit" in tumor generation?
A) Loss of heterozygosity
B) Fusion of two genes
C) Insertional mutagenesis
D) Gene duplication
E) Any of the above
Q3) Which of the following epigenetic modifications is associated with cancer?
A) DNA hypermethylation
B) DNA hypomethylation
C) Histone hypoacetylation
D) All of the above
E) None of the above
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Chapter 15: Genetic Factors in Common Diseases
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7 Verified Questions
7 Flashcards
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Sample Questions
Q1) The Factor V Leiden mutation is associated with:
A)Reduced cleavage of Factor V by Protein C
B) A low carrier frequency
C) Decreased clotting
D) Resolution of phenotype during puberty
E) Delayed presentation due to fetal hemoglobin expression
Q2) One could best tease apart the genetic and environmental causes of a trait through comparisons of which of the following groups?
A) First-degree relatives versus second-degree relatives
B) Sisters versus brothers
C) Monozygotic versus dizygotic twins
D) Parents versus children
E) Twins versus siblings
Q3) Why is population genetic screening for hemochromatosis not recommended?
A) The low frequency of carriers
B) No treatment is available
C) High allelic heterogeneity
D) Because it manifests only late it life
E) Low penetrance of the mutations
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Chapter 16: Congenital Abnormalities and Dysmorphic Syndromes
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5 Verified Questions
5 Flashcards
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Sample Questions
Q1) Which of the following would be considered a deformation?
A) Diaphragmatic hernia
B) Cleft lip
C) Neural tube defect
D) Club foot
E) Epicanthic folds
Q2) A disruption is a type of variation that is characterized by
A) Destruction or interruption of intrinsically normal tissue
B) An underlying genetic mechanism
C) An abnormal developmental process
D) High recurrence risk
E) A cluster of defects
Q3) Which of the following statements is true of holoprosencephaly?
A) It is always caused by a chromosomal defect
B) It is the defective cleavage of the forebrain
C) It is a feature of Sotos syndrome
D) It occurs only as an isolated malformation
E) None of the above
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Chapter 17: Genetic Counseling
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2 Verified Questions
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Sample Questions
Q1) Which of the following should be a feature of genetic counseling sessions?
A) A follow-up letter should be given to the consultand to help with information recall
B) It should be nondirective
C) Risk figures should be conveyed in a manner that gives them context
D) Technical terms should be used sparingly and should be thoroughly defined
E) All of the above
Q2) If we assume that the average person carries one deleterious autosomal recessive mutation,what is the risk that the child of an uncle-niece mating will be homozygous for one of the mutations present in the parents of the child's father?
A) 1/64
B) 1/32
C) 1/16
D) 1/11
E) 1/8
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Chapter 18: Chromosome Disorders
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Sample Questions
Q1) What determines whether a child with a chromosome 15q11-q13 deletion will have Angelman syndrome or Prader-Willi syndrome?
A) The size of the deletion
B) The location of the 3' border of the deletion
C) The location of the 5' border of the deletion
D) The parent of origin of the deletion
E) Variation in a gene on a different chromosome
Q2) What is the most common defect causing male pseudohermaphroditism?
A) Lack of testosterone production
B) Defective androgen receptors
C) Mosaicism for 45,X/46,XY
D) Inappropriate estrogen expression
E) Loss of Y chromosome pseudoautosomal region
Q3) Increased sister chromatid exchange can be found in cells from people with which of the following disorders?
A) Angelman syndrome
B) Fragile X syndrome
C) Bloom syndrome
D) Chromosome 22q11 deletion syndrome
E) Oculocutaneous albinism
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Chapter 19: Single-Gene Disorders
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Sample Questions
Q1) Which of the following mutations is associated with the myotonic dystrophy phenotype?
A) A CCTG expansion 3' of ZNF9
B) A deletion in DMPK
C) A trinucleotide repeat expansion 3' of DMPK
D) A and C
E) B and C
Q2) Café-au-lait spots are a feature of what phenotype?
A) Charcot-Marie-Tooth disease
B) Myotonic dystrophy
C) Neurofibromatosis
D) Huntington disease
E) Marfan syndrome
Q3) Although deletions in the dystrophin gene cause both Duchenne and Becker muscular dystrophy,what feature is shared by the Becker MD-associated mutations?
A) They maintain the reading frame
B) They are smaller
C) They occur in the 5' region of the gene
D) They occur in the 3' region of the gene
E) They delete an alternate exon
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Chapter 20: Screening for Genetic Disease
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Sample Questions
Q1) Which of the following criteria should be met for a disorder to be included in a newborn screening program?
A) The disorder must be fairly common
B) The test for the disorder must have high sensitivity
C) The test for the disorder must have high specificity
D) There must be an intervention available for the disorder
E) All of the above
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Chapter 21: Prenatal Testing and Reproductive Genetics
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4 Verified Questions
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Sample Questions
Q1) Which of the following is used as a prenatal screen for Down syndrome?
A) Ultrasonography for polydactyly
B) Ultrasonography for increased nuchal translucency
C) Increased maternal serum AFP
D) Ultrasonography for brain malformations
E) All of the above
Q2) There is evidence that children conceived as a result of artificial reproductive technologies are at greater risk of what type of disorder?
A) Aneuploidy
B) Single gene disorders
C) Imprinting disorders
D) Balanced translocations
E) Mitochondrial disorders
Q3) Which of the following is a disadvantage of chorionic villus sampling compared to amniocentesis?
A) The need to culture cells before diagnostics can be performed
B) CVS is done later in pregnancy than amniocentesis
C) Higher rates of complication
D) Biochemical analyses cannot be performed on CVS samples
E) Fewer chromosomes can be analyzed specifically
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Chapter 22: Risk Calculation
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Sample Questions
Q1) How is a posterior probability calculated?
A) It equals the sum of all joint probabilities
B) It equals the prior probability minus the sum of all joint probabilities
C) It equals the probability of the event of interest divided by the sum of all joint probabilities
D) It equals the prior probability of the event of interest divided by the sum of all joint probabilities
E) It equals the product of the prior probability of the event of interest times the joint probabilities
Q2) A couple would like to have 3 children,all boys.If they do,in fact,have 3 children,what is the probability that they will all be boys?
A) 1/8
B) 1/6
C) 1/4
D) 1/3
E) 1/2
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24
Chapter 23: Treatment of Genetic Disease
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Sample Questions
Q1) How might antisense oligonucleotides be used to alleviate the severity of Duchenne muscular dystrophy?
A) By causing the degradation of mutant transcripts
B) By upregulating the expression of the mutant gene
C) By blocking the transcription of the mutant gene
D) By replacing the mutant sequence
E) By blocking exon splice enhancers so that the exon containing the mutation is skipped
Q2) According to our current understanding,what makes embryonic stem cells unique compared to other stem cells?
A) They can be engineered to express exogenous DNA
B) Larger DNA segments can be expressed in them
C) They are not rejected by the immune system
D) They can differentiate into any cell type
E) If injected into the bloodstream, they will home to the appropriate location in the body
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25
Chapter 24: Ethical and Legal Issues in Medical Genetics
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Sample Questions
Q1) Under what condition is it recommended that genetic testing of children be available?
A) Whenever it is requested
B) When the parents request it
C) When there is a medical benefit to the testing
D) When the parents want to know risks to future children
E) None of the above
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