Course Introduction
Medical Genetics Review Questions
Medical Genetics is the study of the genetic basis of human health and disease, focusing on the inheritance, diagnosis, and management of genetic disorders. The course explores molecular genetics, chromosomal abnormalities, patterns of inheritance, and the role of genes in common and rare diseases. Students will learn about genetic counseling, ethical considerations, and the latest techniques in genetic testing and therapy. Case studies and current research are integrated to provide practical insights into how genetic principles are applied in clinical settings.
Recommended Textbook
Concepts of Genetics 3rd Edition by Robert J. Brooker
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913 Verified Questions
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2
Chapter 1: Overview of Genetics
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Sample Questions
Q1) A characteristic that an organism displays is called ________.
A) a gene
B) a chromosome
C) DNA
D) gene expression
E) a trait
Answer: E
Q2) A cellular structure that contains genetic information is called a ________.
A) nucleotide
B) genetic code
C) chromosome
D) nucleic acid
Answer: C
Q3) What is the first step that both scientists and students perform to answer questions in genetics?
A) Gathering background information
B) Reaching a conclusion
C) Analyzing data
D) Performing an experiment
Answer: A
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Chapter 2: Reproduction and Chromosome Transmission
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Sample Questions
Q1) Cell division in prokaryotic cells is called ________,while in eukaryotic cells it is called ________.
A) binary fission; binary fission
B) binary fission; mitosis
C) mitosis; mitosis
D) mitosis; binary fission
Answer: B
Q2) Select traits associated with prokaryotic cells.Check all that apply.
A) Genetic information is contained within a nucleoid region.
B) Genetic material is organized as a single circular chromosome.
C) They have a cell wall surrounding their plasma membrane.
D) They have membrane-bound organelles in their cytoplasm.
Answer: A,B,C
Q3) The bivalent structure forms during which of the following?
A) leptotene
B) zygotene
C) pachytene
D) diplotene
E) diakinesis
Answer: B
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Chapter 3: Mendelian Inheritance
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Sample Questions
Q1) The genetic composition of an individual is called its ________.
A) phenotype
B) genotype
C) hybrid
D) dominance
E) None of these choices are correct.
Answer: B
Q2) When Mendel crossed two plants that were heterozygous for a single trait,what was the genotypic ratio of their offspring?
A) 1:2:1
B) 9:3:3:1
C) 3:1
D) 1:1
E) Varied depending on the trait
Answer: A
Q3) The chi square test is used to prove that a hypothesis is correct.
A)True
B)False
Answer: False
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Page 5
Chapter 4: Sex Determination and Sex Chromosomes
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Sample Questions
Q1) The Lyon hypothesis attempts to explain the molecular mechanism of ________.
A) X-inactivation
B) genomic imprinting
C) maternal inheritance
D) extra nuclear inheritance
Q2) A human individual has a karyotype that is XY but is phenotypically female.An explanation for this could be
A) a deletion of the Sry gene on the Y chromosome, thus resulting in an female phenotype.
B) a translocation of the Sry gene to one of the X chromosomes has occurred, thus resulting in a female phenotype.
C) the Sry gene has been amplified 10 fold on the Y chromosome.
D) sex is determined by genes located on autosomes, not sex chromosomes.
Q3) Which of the following does not inactivate an X chromosome?
A) mammals
B) Drosophila
C) C. elegans
D) humans
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Chapter 5: Extensions of Mendelian Inheritance
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Sample Questions
Q1) Scurs are small horn-like growths in cattle that exhibit sex-influenced inheritance.The allele that determines scurs (Sc)is dominant in males and recessive in females.From a mating between a heterozygous male with scurs and a heterozygous female without scurs,what proportion of male offspring will lack scurs (be hornless)?
A) 0%
B) 25%
C) 50%
D) 75%
E) 100%
Q2) Because most lethal alleles are inherited in a recessive manner,a cross between two heterozygous individuals could result in a 2:1 genotypic ratio in their surviving offspring.
A)True
B)False
Q3) Paralogs are often functionally redundant and can compensate for the loss of either of the paralogs in a set.
A)True
B)False
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Chapter 6: Extranuclear Inheritance, Imprinting, and Maternal Effect
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Sample Questions
Q1) The symbiotic relationship of purple bacteria and cyanobacteria with eukaryotic cells was beneficial to both cell types.
A)True
B)False
Q2) Most imprinted genes are silenced.What is one exception to this rule?
A) H19
B) Igf-2
C) UBE3A
D) SNRPN
Q3) What is thought to be the origin of mitochondria and chloroplasts?
A) cyan bacteria/purple bacteria
B) purple bacteria/fungus
C) purple bacteria/cyanobacteria
D) algae/cyanobacteria
Q4) Heteroplasmy is associated with inheritance patterns involving ________.
A) ribosomes
B) maternal effect
C) genomic imprinting
D) nuclear genes
E) chloroplasts
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Chapter 7: Genetic Linkage and Mapping in Eukaryotes
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Sample Questions
Q1) A testcross is always performed between the individual that is heterozygous for the genes to be mapped and an individual who is ________.
A) heterozygous for the genes
B) homozygous dominant for the genes
C) homozygous recessive for the genes
D) lacking the genes
Q2) The parental genotypes for a series of crosses are wild-type male fruit flies mated to females with white eyes and miniature wings.The phenotypes of the F1 generation were wild-type females,and males with white eyes,and miniature wings,indicating sex chromosome linkage.These flies were allowed to mate with each other and produced the following offspring:
Red eyes,long wings 770
White eyes,miniature wings 716
Red eyes,miniature wings 401
White eyes,long wings 318
Total 2205
How many map units is the gene for eye color from the gene for wing length to the nearest tenth?
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Chapter 8: Variation in Chromosome Structure and Number
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Sample Questions
Q1) Which of the following would have the shortest p arm of the chromosome?
A) acrocentic
B) metacentric
C) telocentric
D) submetacentric
Q2) Edward and Patau syndromes are examples of ________.
A) aneuploidy
B) allopolyploidy
C) autopolyploidy
D) translocations
Q3) _______ is a drug that is used to experimentally produce polyploidy in organisms.
A) Penicillin
B) Colchicine
C) Polymosca
D) Karyocine
Q4) The ends of chromosomes have areas of repeated DNA called centromeres.
A)True
B)False
10
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Chapter 9: Genetics in Bacteria
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Sample Questions
Q1) An episome is a segment of bacterial DNA that can exist as a plasmid or be integrated into the bacterial chromosome.
A)True
B)False
Q2) This form of DNA transfer uses a sex pilus to transfer the genetic material.
A) transformation
B) transduction
C) conjugation
D) fission
Q3) DNA may be transferred between bacteria via
A) conjugation.
B) transformation.
C) transduction.
D) fission.
Q4) The site on a plasmid that is cut,producing a single strand of DNA,to allow conjugation to occur is called the ________.
A) origin of transfer
B) relaxase
C) nucleoprotein
D) T DNA
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Chapter 10: Genetics of Viruses
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Sample Questions
Q1) Which virus uses reverse transcriptase in its reproductive cycle?
A) HIV
B) Phage lamda
C) Both of the viruses use reverse transcriptase
D) Neither of the viruses use reverse transcriptase
Q2) A bacteriophage that is physically integrated into the host chromosome is called a ________.
A) heteroduplex
B) envelope phage
C) prophage
D) plaque
Q3) What was the outcome of the experiment that reconstituted two different strains of tobacco mosaic viruses that had different infection characteristics?
A) The differences in infection characteristics depended only on the RNA sequence of the virus strain.
B) The differences in infection characteristics depended only the the protein coat.
C) The differences in infection characteristics depended on an RNA and protein coat interaction.
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Chapter 11: Molecular Structure of DNA and RNA
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Sample Questions
Q1) According to Chargaff's rule,if the DNA of a species contains 20% adenine,what percent of guanine will it contain?
A) 20%
B) 30%
C) 50%
D) 75%
Q2) Select the criteria that all genetic material must meet.
A) It must contain the information necessary to construct the entire organism.
B) It must be passed from parent to offspring.
C) It must be able to be copied.
D) It must have a limited amount of variation.
Q3) Avery,Macleod,and McCarty used the enzyme ________ to remove the proteins from the cell extracts.
A) protease
B) DNase
C) RNase
Q4) A purine on one strand of the DNA is always paired with a pyrimidine on the other strand.
A)True
B)False
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Chapter 12: Molecular Structure of Chromosomes and Transposition
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Sample Questions
Q1) A nucleus is 4 m in diameter.Its DNA is composed of a million base pairs.Approximately how much does the DNA need to be condensed in order to fit inside the nucleus?
A) 30-fold
B) 100,000-fold
C) 1 million-fold
D) 3 million-fold
Q2) How many types of histone proteins are there?
A) 4
B) 5
C) 7
D) 8
Q3) Areas of the chromosome that are highly condensed and transcriptionally inactive are called
A) euchromatin.
B) superchromatin.
C) heterochromatin.
D) MAR.
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Chapter 13: Dna Replication and Recombination
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Sample Questions
Q1) After the action of the helicase,single-stranded binding proteins keep the parental DNA strands from reforming a double helix.
A)True
B)False
Q2) What enzyme relaxes supercoiling ahead of the replication fork?
A) DNA ligase
B) DNA primase
C) topoisomerase
D) DNA polymerase I
E) DNA polymerase III
Q3) In E.coli,which protein(s)are necessary for the cell to recognize double-stranded breaks and conduct recombination during meiosis?
A) RecG
B) RecA
C) RecBCD
D) RuvABC
Q4) A primosome consists of a polymerase and a single-stranded binding protein.
A)True
B)False
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Chapter 14: Gene Transcription and RNA Modification
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Sample Questions
Q1) What is the purpose of phosphorylating the carboxy terminal domain (CTD)of RNA
Polymerase II?
A) convert from the initiation to the elongation stage
B) to aid in transcriptional initiation
C) phosphorylate transcription factors
D) allow transcription factors to bind the TATA box
Q2) A mutation in which of the following would result in a failure of the RNA polymerase to maintain an open complex?
A) TFIIB
B) TFIID
C) TFIIE
D) TFIIH
E) TFIIF
Q3) What RNA modification is important for mRNA stability?
A) alternative splicing
B) RNA editing
C) base modification
D) 3' polyA tailing
E) processing
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Page 16
Chapter 15: Translation of MRNA
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Sample Questions
Q1) The C-terminus of a polypeptide always contains
A) a stop codon.
B) a carboxyl group.
C) an amino group.
D) carbon dioxide.
E) a stop amino acid.
Q2) The genetic code - the correspondence between codons and amino acids - is unique for each species of organism.
A)True
B)False
Q3) Which component of the ribosome is able to detect when the wrong tRNA has inserted into the A site?
A) 16S rRNA
B) P site
C) Shine-Dalgarno sequence
D) snRNA
E) aminoacyl-tRNA synthetase
F) 23S rRNA
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Chapter 16: Gene Regulation in Bacteria
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Sample Questions
Q1) If CAP could not bind to its CAP site,then what would be the result? Assume lactose is present in each scenario.
A) Transcription would be difficult to repress in the presence of glucose.
B) Transcription would be difficult to activate in the presence of glucose.
C) Transcription would be difficult to activate in the absence of glucose.
D) Transcription would be difficult to repress in the absence of glucose.
Q2) Which of the following encode polycistronic mRNA?
A) lac operon
B) ara operon
C) trp operon
D) All of the answers are correct.
Q3) The lac operon is under what type of control?
A) positive control
B) negative control
C) The gene would be expressed constitutively.
D) It depends on what the gene encodes.
Q4) Because it stabilizes mRNA, antisense RNA enhances translation.
A)True
B)False
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Chapter 17: Gene Regulation in Eukaryotes
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Sample Questions
Q1) Which of the following is an example of epigenetic inheritance?
A) Expression of the Igf2 gene based on methylation of the ICR and DMR regions
B) Inheritance of flower color as studied by Mendel
C) Control of mRNA stability by an RNA-binding protein
D) Activation of transcription by a general transcription factor
Q2) What is the molecular mechanism for imprinting a gene?
A) Acetylation
B) Nitration
C) Phosphorylation
D) Methylation
Q3) Acetylation of histones results in
A) formation of an open chromatin structure.
B) removal of histones from the histone octomer.
C) formation of a closed chromatin structure.
D) termination of transcription.
Q4) Both parents usually imprint the same gene.
A)True
B)False
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Chapter 18: Non-Coding Rnas
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Sample Questions
Q1) The CRISPR-Cas system in bacteria is most similar to what system in vertebrates?
A) Immune system
B) Circulatory system
C) Nervous system
D) Digestive system
Q2) What human disease is associated with mutations in Drosha?
A) Familial amyotrophic lateral sclerosis
B) Alzheimer disease
C) Heart arrhythmias
D) Lung cancer
Q3) What is the name of the type of chemical modification on anti-miRNA oligonucleotides used to inhibit miRNA function that involves ribose sugars with an extra bridge connecting the 2 oxygen and the 4 carbon?
A) Locked nucleic acids
B) Antagomirs
C) Enoxacin
D) RNaseMRP
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Chapter 19: Gene Mutation and DNA Repair
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Sample Questions
Q1) Anticipation is associated with which of the following?
A) nonsense mutations
B) up-promoter mutations
C) intergenic suppressors
D) TRNE mutations
Q2) The Lederbergs developed the process of replica plating to test whether advantageous mutations arose in response to the selective agent or were naturally present in the population before selection.
A)True
B)False
Q3) Which of the following is not an example of a spontaneous mutation?
A) DNA replication errors
B) tautomeric shifts
C) aberrant recombination
D) UV light
E) transposable elements
Q4) Silent mutations are possible due to the degenerate nature of the genetic code.
A)True
B)False
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Chapter 20: Molecular Technologies
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Sample Questions
Q1) The origins of which of the following cell types creates the least amount of ethical debate?
A) embryonic germ cells
B) hematopoietic stem cells
C) embryonic stem cells
D) All of the answers are equal.
Q2) What is the purpose of RNaseH in the making of cDNA?
A) It copies the RNA into a complementary DNA strand.
B) It reforms the sugar-phosphate backbone.
C) It generates short RNAs that are used as primers.
D) It proofreads the cDNA for errors.
Q3) Select items that describe a stage of a PCR reaction.Choose all that apply.
A) DNA is heated to a temperature that causes the strands to separate.
B) Primers bind to complementary sequences on the template DNA.
C) DNA gyrase enzyme relieves the supercoiling ahead of the replication fork.
D) The DNA polymerase synthesizes a new strand of DNA that is complementary to the template DNA.
Q4) An organism that can be regenerated from somatic cells is called multipotent.
A)True
B)False
Page 22
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Chapter 21: Genomics
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Sample Questions
Q1) ________ make it possible for researchers to study how an entire genome responds to an environmental stimuli.
A) Gene knockouts
B) PCR reactions
C) DNA microarrays
D) Shotgun sequences
Q2) Select all advantages of RNA-Seq as compared to DNA microarrays.
A) Better detection of transcripts present at low levels
B) Identifies boundaries of introns and exons to determine splice variants
C) More accurately quantifies the amount of each transcript
D) Does not require isolation of RNA from the cell
E) Does not require cDNA synthesis
Q3) The human genome consists of approximately ________ base pairs of DNA.
A) 100,000
B) 1 million
C) 1 billion
D) 3 billion
E) 2 trillion
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23
Chapter 22: Medical Genetics and Cancer
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Sample Questions
Q1) In a disease that has a single gene,the concordance among monozygotic twins should be
A) 0%.
B) 25%.
C) 50%.
D) 75%.
E) 100%.
Q2) Haplotypes can be useful in the identification of disease genes since
A) the least concordant marker(s) is typically the one that is closest to the disease gene.
B) the most concordant marker(s) is typically the one that is closest to the disease gene.
C) the most concordant marker(s) is the disease gene.
D) no pedigree information needs to be known.
Q3) The process of ________ removes amniotic fluid from a pregnant mother to examine fetal cells for genetic problems.
A) amniocentesis
B) chorionic villus sampling
C) preimplantation genetic diagnosis
D) in vitro fertilization
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Chapter 23: Population Genetics
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Sample Questions
Q1) A natural disaster that resulted in the loss of genetic diversity in a population would be an example of a
A) founder effect.
B) genetic drift.
C) bottleneck effect.
D) natural selection.
Q2) Migration of a random few individuals from one population to a new area to establish a new population is an example of
A) bottleneck effect.
B) mutation.
C) founder effect.
D) selection.
Q3) Which of the following types of selection is typically associated with quantitative traits?
A) disruptive selection only
B) both stabilizing and disruptive selection
C) stabilizing selection only
D) balancing selection
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25
Chapter 24: Quantitative Genetics
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Sample Questions
Q1) Inbreeding reduces which of the following variances to near zero?
A) genetic variance
B) environmental variance
C) both variances
D) neither variance
Q2) After several generations of artificial selective breeding,a plateau is reached where artificial selection is no longer effective. This is called the ________.
A) realized limit
B) realized heritability
C) selection coefficient
D) selection limit
Q3) In calculations of the degrees of freedom for a correlation coefficient,what value does the degrees of freedom take?
A) (n - 1)
B) (n - 2)
C) (n - 1)/2
D) 2(n - 1)
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