Molecular Genetics
Midterm Exam
Course Introduction
Molecular Genetics explores the structure, function, and regulation of genes at the molecular level. The course covers topics such as DNA replication, transcription, translation, genetic mutation, gene expression, and genetic technologies. Students will examine how genetic information is encoded, maintained, and expressed in living organisms, as well as modern techniques used to manipulate genetic material for research, medicine, and biotechnology. The course integrates fundamental concepts with recent advances in genomics and molecular biology, fostering critical thinking about the impact of molecular genetics on health, agriculture, and society.
Recommended Textbook
Emerys Elements of Medical Genetics 14th Edition by Peter Turnpenny
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24 Chapters
149 Verified Questions
149 Flashcards
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Page 2
Chapter 1: The History and Impact of Genetics in Medicine
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Sample Questions
Q1) 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
Q2) 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
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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Sample Questions
Q1) Which of the following distinguishes lagging strand from leading strand synthesis during DNA replication?
A) 5' to 3' direction
B) Continuous synthesis
C) Okazaki fragments
D) Requirement for DNA polymerase
E) Requirement for DNA helicase
Answer: C
Q2) Which of the following is an example of repetitive DNA?
A) Microsatellite
B) Minisatellite
C) Telomere
D) SINE
E) All of the above
Answer: E
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Chapter 3: Chromosomes and Cell Division
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Sample Questions
Q1) Why are phytohemagglutinin and then colchicine added to blood samples before chromosome analysis is done?
A) To lyse the red blood cells
B) To enhance the chromosomal banding patterns
C) To stimulate the cells to divide and arrest at metaphase
D) So that chromosomes will align nicely on mitotic spindles
E) So that homologous chromosomes will be paired at the equatorial plane of the cell
Answer: C
Q2) The significance of a Robertsonian translocation is which of the following?
A) The loss of the sequences in the p arms of the involved chromosomes
B) Inability of the involved chromosomes to recombine
C) The risk of an unbalanced chromosome complement in gametes
D) Loss of chromosomal material in somatic cells during mitosis
E) Robertsonian translocations are generally benign
Answer: C
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Chapter 4: Dna Technology and Applications
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Sample Questions
Q1) Which type of marker is used for DNA fingerprinting?
A) SNP
B) Microsatellite
C) Indel
D) Minisatellite
E) Copy number variant
Q2) 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
Q3) 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
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Page 6
Chapter 5: Mapping and Identifying Genes for Monogenic Disorders
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Sample Questions
Q1) 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
Q2) What is a contig?
A) A series of genetic markers across a genome
B) A series of markers across a chromosome
C) A series of clones with overlapping DNA that spans a particular genetic region
D) A series of clones from a variety of individuals that represent that same genetic region
E) A series of clones from a variety of organisms that represent syntenic regions
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Chapter 6: Developmental Genetics
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Sample Questions
Q1) An infertile female is found to have a 46,XY karyotype.Within which region is she likely to have a mutation or deletion?
A) Pseudoautosomal region
B) SRY
C) XIST
D) One of the AZF regions
E) DAZ
Q2) How many Barr bodies does somebody with a 47,XXY karyotype have?
A) 0
B) 1
C) 2
D) 3
E) More information is needed
Q3) Which of the following is a phenotype associated with mutations in the sonic hedgehog signaling pathway?
A) Holoprosencephaly
B) Osteogenesis imperfecta
C) Primary sex reversal
D) Spina bifida
E) All of the above
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Chapter 7: Patterns of Inheritance
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Sample Questions
Q1) Traits that are observed in individuals who are heterozygous for mutations at two different loci are called
A) Digenic traits
B) Biallelic traits
C) Compound heterozygotes
D) Compound traits
E) Epistatic traits
Q2) Which of the following terms is used to describe the fact that mutations in a single gene can have more than one phenotypic effect?
A) Pleiotropy
B) Variable expressivity
C) Variable penetrance
D) Heteroplasmy
E) Mosaicism
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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Sample Questions
Q1) The strategy behind association analyses is to look in affected populations for allele sharing in which of the following?
A) The disease gene
B) The disease chromosome
C) The founder haplotype
D) Regions of homozygosity
E) Regions of similarity
Q2) What has led to the rise in frequency of the alleles for the sickle cell trait?
A) Genetic drift
B) Population bottleneck
C) Heterozygote advantage
D) Negative selection
E) Assortative mating
Q3) 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
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Chapter 9: Polygenic and Multifactorial Inheritance
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Sample Questions
Q1) Multifactorial,quantitative traits often show which type of distribution in a population?
A) Normal
B) Uniform
C) Bernoulli
D) Random
E) Bimodal
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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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) This region regulates the switching of the b-like globin chains during development.
A) Locus control region
B) Master globin regulator
C) Imprinting control region
D) Globin switch
E) Immediate early region
Q3) 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
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12
Chapter 11: Biochemical Genetics
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Sample Questions
Q1) 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
Q2) Which of the following may be associated with hyperphenylalaninemia that is refractory to management of dietary phenylalanine?
A) Tetrahydrobiopterin deficiency
B) Complete loss of phenylalanine hydroxylase activity
C) Dominant negative mutation in phenylalanine hydroxylase
D) Maternal PKU
E) Deficiency in phenylalanine uptake
Q3) What modification has increased the success of enzyme replacement therapy for Gaucher disease?
A) Using larger doses of enzyme
B) Targeting the enzyme to cross the blood-brain barrier
C) Modifying the enzyme so that it is targeted to macrophage lysosomes
D) Providing the enzyme in conjunction with a bone marrow transplant
E) Removal of the spleen before treatment
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Chapter 12: Pharmacogenetics
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4 Verified Questions
4 Flashcards
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Sample Questions
Q1) When treated with isoniazid,people who are homozygous for an allele associated with low N-acetyltransferase activity are at risk for which of the following?
A) Inability to maintain sufficient levels of isoniazid for treatment
B) Polyneuritis
C) Inability to absorb sufficient isoniazid
D) Hemolysis
E) Sudden death
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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14
Chapter 13: Immunogenetics
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Sample Questions
Q1) 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
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) For which of the following tissues is homograft rejection not an issue?
A) Bone marrow
B) Liver
C) Kidney
D) Heart
E) Cornea
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Chapter 14: Cancer Genetics
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Sample Questions
Q1) Mismatch repair defects causing hereditary nonpolyposis colon cancer are associated with which molecular phenomenon,which can be helpful for diagnosis?
A) DNA hypomethylation
B) DNA hypermethylation
C) DNA hypercondensation
D) Microsatellite instability
E) DNA breakage
Q2) 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
Q3) Loss of telomerase expression prevents cells from doing which of the following?
A) Repairing mismatch mutations
B) Regulating their cell cycle appropriately
C) Dividing indefinitely
D) Synthesizing the leading DNA strand during replication
E) Becoming senescent
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Page 16
Chapter 15: Genetic Factors in Common Diseases
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Sample Questions
Q1) 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
Q2) Which of the following classes of proteins has been associated with several genetic forms of epilepsy?
A) Transcription factors
B) Chaperones
C) Mitochondrial proteins
D) Ion channels
E) Growth factor receptors
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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Sample Questions
Q1) 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
Q2) What causes a "sequence" of multiple abnormalities?
A) A single gene that is expressed in several tissues
B) A single disruptive force that acts in multiple areas of the body
C) A cascade of events initiating from one initial insult
D) A genetic deletion that includes multiple genes
E) Aneuploidy
Q3) 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
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Chapter 17: Genetic Counseling
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Sample Questions
Q1) 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
Q2) 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
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Chapter 18: Chromosome Disorders
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Sample Questions
Q1) Which of the following is a definite indication for chromosome analysis?
A) Multiple congenital abnormalities
B) Diaphragmatic hernia
C) Single palmar crease
D) Cleft lip
E) All of the above
Q2) Which of the following is true of Fragile X syndrome?
A) Affected individuals have testicular atrophy beginning at puberty
B) Accurate prenatal diagnosis of full-mutation females is available
C) Premutation carriers show no phenotypic effects
D) Expansion of premutation alleles occurs primarily during spermatogenesis
E) It is almost always associated with a trinucleotide expansion in the 5' untranslated portion of FMR1
Q3) 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
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Chapter 19: Single-Gene Disorders
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Sample Questions
Q1) Which of the following is true of CFTR mutations?
A) Mutations affecting the function of CFTR are always associated with a classic CF phenotype
B) There are clear genotype-phenotype correlations for CFTR mutations
C) Mutations can present as congenital bilateral absence of the vas deferens as the sole phenotype
D) The IVS8 9T variant allele causes classic CF
E) Pancreatic insufficiency is rarely found in people with the DF508 mutation
Q2) The reciprocal deletion of the duplication causing hereditary and motor-sensory neuropathy is associated with what phenotype?
A) Normal phenotype
B) Recurrent miscarriages
C) Charcot-Marie-Tooth disease
D) Pain insensitivity
E) Hereditary neuropathy with pressure palsies
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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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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) Detection of a rocker-bottom foot on ultrasonography is suggestive of which chromosomal abnormality?
A) Trisomy 21
B) Trisomy 18
C) Trisomy 13
D) Philadelphia chromosome
E) Monosomy X
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) 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
Q2) 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
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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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