Medical Genetics
Exam Questions
Course Introduction
Medical Genetics explores the principles of genetics as they apply to human health and disease, focusing on the molecular, chromosomal, and biochemical bases of genetic disorders. The course covers patterns of inheritance, gene mapping, techniques for detecting genetic mutations, and the clinical manifestations of inherited conditions. It also examines current advances in genetic testing, counseling, and gene therapy, and addresses the ethical, legal, and social implications of genetic information in medicine. Through case studies and real-world examples, students gain a comprehensive understanding of how genetics informs the diagnosis, treatment, and prevention of various diseases.
Recommended Textbook
Human Heredity Principles and Issues 10th Edition by Michael Cummings
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19 Chapters
1035 Verified Questions
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Chapter 1: A Perspective on Human Genetics
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Sample Questions
Q1) Mendel's work on the transmission of genes in pea plants is applicable to ____.
A) only pea plants
B) plants and some animals but not humans
C) all plants, but only plants
D) all plants and animals, including humans
E) all organisms
Answer: D
Q2) Which of the following terms is not closely related to the others?
A) Haplotype
B) Single nucleotide polymorphism
C) Genome-wide association study
D) Induced pluripotency
E) All of these terms are closely related
Answer: D
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Chapter 2: Cells and Cell Division
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Sample Questions
Q1) The process of meiosis results in ____.
A) the production of four identical cells
B) no change in chromosome number from parental cells
C) a doubling of the chromosome number
D) a reduction in chromosome number
E) two diploid cells
Answer: D
Q2) Which of the following genetic diseases involve defects in DNA repair, which affects cell division?
A) Gaucher disease and Werner syndrome
B) Kearns-Sayre syndrome and progeria
C) Progeria and Werner syndrome
D) Gaucher disease and cystic fibrosis
E) Progeria and Werner syndrome.
Answer: E
Q3) Cytokinesis usually occurs just prior to mitosis.
A)True
B)False
Answer: False
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Page 4
Chapter 3: Transmission of Genes From Generation to Generation
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Sample Questions
Q1) In his monohybrid crosses, Mendel deduced that one trait was recessive because
A) that trait was not present in the F1 and did not reappear in the F2
B) that trait was present in the F1 and in the F2
C) that trait was not present in the F1 and reappeared in the F2
D) that trait was present only in the parents
E) that trait was present only in the F2
Answer: C
Q2) In a trait with multiple alleles, an individual carries ____________________ (how many?) alleles of the gene.
Answer: 2
Q3) A locus is best defined as _____.
A) an alternate form of a gene
B) the chromosome location of the centromere
C) the location of a gene on a chromosome
D) a mutation of a gene to an alternate state
E) the site of crossing over
Answer: C
Q4) The genetic recombination event discovered by Mendel is _______ .
Answer: independent assortment
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Chapter 4: Pedigree Analysis in Human Genetics
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Sample Questions
Q1) The degree to which a trait is expressed in individuals is the ____________________ of the trait.
Q2) Mendel's laws apply to all sexually reproducing organisms. Therefore, the basic methods of genetic analysis in humans and other organisms is the same.
A)True
B)False
Q3) If a man expresses an X-linked recessive trait, we can draw the following conclusion:
A) His father carried the mutation.
B) His father transmitted the trait to his son.
C) His mother did not carry the mutation gene.
D) His mother was heterozygous or homozygous for the trait.
E) All his brothers will also show the trait.
Q4) Genetic diseases transmitted only by a mother to both sons and daughters result from ____________________ genes.
Q5) If a man and his wife are both homozygous for a disease-causing recessive gene, then ____________________ of their children will be affected.
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Chapter 5: Complex Patterns of Inheritance
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Sample Questions
Q1) Twins are said to be concordant for a trait when
A) both twins exhibit the trait.
B) only identical twins exhibit the trait.
C) only fraternal twins exhibit the trait.
D) fraternal twins more often show the trait than identical twins.
E) None of these is true.
Q2) ______________ traits are those that result from the interaction of genes and the environment..
Q3) How would you go about determining whether a trait was controlled by a single gene or by polygenes? Would pedigree analysis be of use in answering this question?
Q4) A diet rich in ___ has been shown to reduce the incidence of spina bifida.
A) vitamin C
B) niacin
C) folate
D) vitamin D
E) vitamin E
Q5) Provide evidence from a specific example that argues for a substantial role for the environment in determining IQ.
Q6) The hormone leptin is produced in ____________________ cells.
Page 7
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Chapter 6: Cytogenetics: Karyotypes and Chromosome
Aberrations
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Sample Questions
Q1) When making a karyotype, what is the effect of placing lymphocytes in a low-salt solution?
A) It makes the chromosomes more visible.
B) It initiates cell division.
C) It stops the cells in metaphase.
D) It helps separate the chromosomes.
E) It causes the cells to swell.
Q2) The placement of chromosomes into one of the seven groups in a karyotype is based on the chromosome's
A) size.
B) centromere position.
C) banding pattern.
D) size and centromere position only.
E) all of these.
Q3) Monosomy for autosomes is lethal in humans. If an aborted male fetus had monosomy for chromosome 6, how would you designate (write) the karyotype?
Q4) How many chromosomes are in a red blood cell taken from a normal person?
Q5) _______ describes a chromosome that has a centrally-placed centromere.
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Chapter 7: Development and Sex Determination
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Sample Questions
Q1) The initial reports on Bruce, who became Brenda, confirmed __________in determining sexual identity.
A) nature is more important than nurture
B) nurture is more important than nature
C) nature and nurture are equally important
D) nothing of interest
Q2) Normally, only one sperm fertilizes an egg. What role do other sperm play?
A) They assist the fertilizing sperm in penetrating the egg.
B) They trigger chemical changes in the egg.
C) They dissolve the outer barriers surrounding the oocyte.
D) They assist the fertilizing sperm in penetrating the egg and trigger chemical changes in the egg.
E) They trigger chemical changes in the egg and dissolve the outer barriers surrounding the oocyte.
Q3) Implantation of an embryo normally has occurred by how long after fertilization?
A) 3 days
B) 6 days
C) 12 days
D) 20 days
E) 1 month
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Chapter 8: DNA Structure and Chromosomal Organization
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Sample Questions
Q1) A DNA molecule has four "ends"- two on each of the two polynucleotide strands. How many of these ends are phosphate groups?
Q2) The unit structure of chromatin is the ____________________, which is made up of ____________________ types of ____________________ proteins complexed with DNA.
Q3) In human cells, DNA replication begins at the top of each chromosome and spreads down the length.
A)True
B)False
Q4) The nitrogenous bases of DNA stores genetic information.
A)True
B)False
Q5) DNA is synthesized in a 5' - 3' direction during replication. That is, the 5' end of each new strand is laid down first. Why is it necessary, as DNA unwinds to replicate, to have one strand synthesized continuously and the other synthesized in short fragments that are later linked into long chains?
Q6) A ____________________ is made up of a sugar, a phosphate, and a nitrogenous base.
Q7) The sugar found in DNA is a ____________________.
Page 10
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Chapter 9: Gene Expression: From Genes to Proteins
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Sample Questions
Q1) What genetic properties does RNA have in common with DNA? In humans, what genetic properties does RNA lack?
Q2) How many nucleotides form the code for one amino acid?
A) 2
B) 3
C) 4
D) 5
E) 6
Q3) All amino acids are characterized by
A) an amino group and a peptide bond.
B) a carboxyl group and a peptide bond.
C) the presence of two R groups.
D) an amino group and a carboxyl group.
E) none of these.
Q4) What kinds of mutational events might be associated with introns in human genes?
Q5) For any given gene, one strand of DNA serves as a coding strand, the other as a non-coding strand. Why is a non-coding strand needed at all?
Q6) The sequences in mRNA that are not translated are the ____________________.
Q7) Outline the role of RNA in the synthesis of polypeptides.
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Chapter 10: From Proteins to Phenotypes
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Sample Questions
Q1) PKU results from a failure to convert tyrosine to phenylalanine.
A)True
B)False
Q2) Fetal hemoglobin functions adequately in the fetus but is ineffective in adults. A)True
B)False
Q3) The enzyme lactase splits the lactose molecule into ____________ and ____________.
Q4) Lactose intolerance is caused by a mutation in the gene that codes for lactase.
A)True
B)False
Q5) What is the nature of the genetic mutation that causes lactose intolerance?
A) It is a dominant mutation that prevents lactase production.
B) It is a dominant mutation that causes a decline in adult lactase levels.
C) It is a recessive mutation that prevents lactase production.
D) It is a recessive mutation that causes a decline in adult lactase levels.
E) It is an X-linked mutation that prevents lactase production.
Q6) Certain traits in humans are incompletely penetrant, or show variations in expressivity. Can you suggest a biochemical explanation for these observations in such cases caused by a metabolic error?
Page 12
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Chapter 11: Mutation: the Source of Genetic Variation
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Sample Questions
Q1) Mutation rates of human genes are usually expressed as the number of A) nucleotides altered per gene.
B) frameshift mutations per genome.
C) mutated alleles per genome.
D) mutant births per generation.
E) mutated alleles per generation.
Q2) The base analog, 5-bromouracil substitutes for the nucleotide base, _____________, in a DNA molecule.
Q3) Genomic imprinting is a phenomenon that does not violate Mendelian principles of segregation and independent assortment.
A)True
B)False
Q4) It is possible to have a mutation in a gene that produces no change whatsoever in the protein coded for by that gene. A)True B)False
Q5) Genomic imprinting is caused by epigenetic changes to DNA A)True B)False
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Chapter 12: Genes and Cancer
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Sample Questions
Q1) The discovery of the nature of the Philadelphia chromosome in myelogenous leukemia represents
A) a chromosome aberration that is secondary to the cancer.
B) an aberration that is caused by the development of cancer.
C) a translocation that is a chance event.
D) a specific chromosome aberration accompanying a specific cancer.
E) evidence of exposure to chemical carcinogens.
Q2) Mutations of the tumor-suppressor gene ____________________ are pivotal in formation of many cancers.
Q3) Retinoblastoma occurs only in one eye in patients at a low risk of developing other cancers when the ____________________ form is present.
Q4) Which one of the following statements about the BRCA1 gene for breast cancer is FALSE?
A) It was discovered by Mary-Claire King and her colleagues.
B) The gene is also linked to ovarian cancer.
C) One mutated copy of BRCA1 is sufficient to cause cancer.
D) Although only 1 in 200 females inherit it, 90 percent of them will develop breast cancer.
E) It is located on the long arm of chromosome 17.
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Page 14
Chapter 13: An Introduction to Genetic Technology
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Sample Questions
Q1) The vectors most commonly used in recombinant DNA technology are ____________.
Q2) Embryo splitting
A) mimics the way identical twins and triplets are produced naturally.
B) is a means of cloning animal embryos.
C) requires in vitro fertilization.
D) is a technology that could improve the production of domestic animals. E) is characterized by all of these traits.
Q3) Southern blotting is a technique for analyzing DNA.
A)True B)False
Q4) The cloning technique that employs in vitro fertilization is ____________.
Q5) DNA polymerase is used in the polymerase chain reaction. A)True B)False
Q6) In DNA sequencing, the different sized fragments created are separated from each other by ____________________.
Q7) Adult cells cannot be used as the source of nuclei for cloning animals.
A)True B)False
Q8) What are the benefits of cloning animals? Page 15
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Chapter 14: Biotechnology and Society
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Sample Questions
Q1) What is the value of having transgenic mice with the human gene for Huntington's disease (HD)?
A) The mice can be sacrificed and their brains examined to learn about the early stages of the disease.
B) The mice can be used to screen possible anti-HD drugs.
C) The mice are much more numerous and available for study than human patients.
D) The mice can be used to screen possible anti-HD drugs and are much more numerous and available for study than human patients.
E) All of these.
Q2) Human insulin is produced in transgenic hamster cells.
A)True
B)False
Q3) A ____________________ organism is one that carries a gene that has been transferred to it from another species.
Q4) GAA, used to treat Pompe disease, is now synthesized by ____________.
Q5) What are some potential problems that might result from the release of genetically engineered organisms into the environment?
Q6) Summarize the various different uses for transgenic animals and plants.
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Chapter 15: Genomes and Genomics
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Sample Questions
Q1) The confirmed diagnosis that Baby T had Bartter syndrome was based on the use of a method called ____________.
A) whole genome analysis
B) whole exome analysis
C) whole introme analysis
D) whole nucleotide analysis
E) whole proteome analysis
Q2) What is some of the important or useful information that can be gained from proteomics that is not available from genomics?
Q3) Two genes have a lod score of 6.1. This means that the two genes are most likely on different chromosomes.
A)True
B)False
Q4) Annotation is a process done to find all genes that A) code for protein.
B) are active in any given cell type.
C) encode any RNA or protein product.
D) are linked on any one chromosome.
E) exist in a species.
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Chapter 16: Reproductive Technology, Genetic Testing, and Gene Therapy
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Sample Questions
Q1) In which of the following does fertilization take place within a woman's body?
A) GIFT
B) ICSI
C) PGD
D) IVF
E) ZIFT
Q2) Most genetic counselors
A) have an M.D. and/or Ph.D. degree.
B) are individuals who have previously sought counseling themselves.
C) are trained in biology and psychology, but are unfamiliar with lab and clinical procedures.
D) work in individual private counseling offices.
E) have none of these traits.
Q3) In ________, a zygote formed by IVF is implanted into the oviduct through a small incision.
Q4) Surrogacy is legal in every state in the United States.
A)True
B)False
Page 19
Q5) Describe two prenatal tests for genetic disorders.
Q6) The most direct way to detect Down Syndrome in a fetus is by ___________.
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Chapter 17: Genes and the Immune System
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Sample Questions
Q1) In humans, the immune system is relatively undeveloped at birth, and immunocompetence (ability to mount an immune response) develops thereafter, yet newborns have circulating antibodies. Where do these come from? Is the post-natal development of the immune system an advantage or disadvantage? Why or why not?
Q2) Agammaglobulinemia is strictly an environmental disease.
A)True
B)False
Q3) Which of the following is a pair of agents that both puncture the membranes of foreign bacteria?
A) Macrophages and helper T cells
B) MAC and killer T cells
C) Antibodies and killer T cells
D) Antibodies and plasma cells
E) MAC and plasma cells
Q4) The huge diversity of antibody molecules is generated by the shuffling of gene segments in T cells.
A)True
B)False
Q5) T cells become mature, programmed cells in the _______________.
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Chapter 18: Genetics of Behavior
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Sample Questions
Q1) Emphasis is now being placed on the relationship between abnormalities in neurotransmitters and altered social behavior. Does it seem likely that metabolic differences can alter only behavior, and not produce effects on other systems such as muscle movement and coordination? How do you reconcile such apparent contradictions?
Q2) The FOXP2 gene encodes a transcription factor and has been shown to be important for ______________ development.
Q3) The gene associated with aggressive behavior identified in 1993 is to be linked to an enzyme called ____________________.
Q4) The mutant huntingtin protein that results in Huntington disease
A) causes a decrease in production of another protein.
B) leads to degeneration of cells in the brain's striatum.
C) is toxic to brain cells.
D) leads to degeneration of cells in the brain's striatum and is toxic to brain cells only.
E) has all of these traits.
Q5) The FOXP2 gene encodes a protein involved in aggressive behavior.
A)True
B)False
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Chapter 19: Population Genetics and Human Evolution
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Sample Questions
Q1) The sickle cell allele is spread through the population in West Africa and maintained at a high frequency due to ____________________ advantage.
Q2) In a hypothetical population of 1,000 people, there is a hypothetical trait called pink toe. People who are homozygous dominant have red toes; those who are homozygous recessive have white toes; those who are heterozygous have pink toes. If 400 people have red toes, the number of people with pink toes is ______________.
Q3) Hardy and Weinberg showed that the allele frequencies in a non-evolving population change with successive generations.
A)True
B)False
Q4) Gene frequencies often differ from population to population. What factors might hold gene frequencies at different levels in adjacent populations?
Q5) If .04 percent (.0004) of the people in a population have sickle cell anemia, the percent of heterozygotes in the population must be ____________________.
Q6) How can genetics be used as a tool to reconstruct the history of the human species?
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