Medical Genetics Exam Bank
Course
Introduction
Medical Genetics explores the fundamental principles of genetics as they apply to human health and disease. The course covers the structure, function, and transmission of genes; the mechanisms underlying genetic disorders; patterns of inheritance; and the molecular basis of genetic diseases. Students will learn about current diagnostic techniques, genetic counseling, gene therapy, and the ethical, legal, and social issues surrounding genetic testing and personalized medicine. Through case studies and practical examples, the course highlights the critical role of genetics in modern medical practice and patient care.
Recommended Textbook
Human Heredity Principles and Issues 11th Edition by Michael Cummings
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19 Chapters
1140 Verified Questions
1140 Flashcards
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Page 2
Chapter 1: A Perspective on Human Genetics
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60 Verified Questions
60 Flashcards
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Sample Questions
Q1) The simplest type of variation in a genome sequence is a single nucleotide change called a(n)
Answer: single nucleotide polymorphism (SNP)
Q2) The separation of genes during the formation of the sperm and egg and the reunion of genes at fertilization is explained by the behavior of chromosomes in a form of cell division called meiosis.
A)True
B)False
Answer: True
Q3) Induced pluripotent stem cells are ____
A) produced from normal body cells
B) not used for human genetic research
C) a major cause of cancer
D) grown in the lab to produce clones
E) isolated from embryos
Answer: A
Q4) Eugenics is the attempt to improve the human species by
Answer: selective breeding
Q5) Chemical subunits called amino acids combine to make
Answer: proteins
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Chapter 2: Cells and Cell Division
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Sample Questions
Q1) The underlying problem in Gaucher disease is ____.
A) the spontaneous breakdown of red blood cells
B) the accumulation of fat in white blood cells
C) the breakdown of the myelin sheath around nerves
D) a hypertrophied spleen
E) the lack of critical liver enzymes
Answer: B
Q2) Identical gene loci are located on ____________________.
Answer: homologous chromosomes homologues
Q3) In mitosis,chromatids separate and move to the center of the cell during ____________________.
Answer: metaphase
Q4) The two types of nucleic acids are ____________________ and ____________________.
Answer: DNA; RNA RNA; DNA
Q5) The only cytoplasmic organelles in animal cells aside from nuclei that contain DNA are ____________________.
Answer: mitochondria
4
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Chapter 3: Transmission of Genes from Generation to Generation
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Sample Questions
Q1) Mendel analyzed his pea plant data using the principles of ____.
A) nomenclature
B) physics
C) Aristotle
D) cellular dynamics
E) probability
Answer: E
Q2) People with albinism carry two copies of the ____________________ allele (aa)and cannot make a pigment called ____________________ which is the principal pigment in skin,hair and eye color.
Answer: recessive; melanin
Q3) Independent assortment means that the ____.
A) phenotypes are often a blending of two independent genotypes
B) segregation of one gene pair depends on the segregation of another gene pair
C) gametes produced must be heterozygous in all cases
D) segregation of one gene pair occurs as if no other gene pair was present
E) phenotypic ratio in F2 will be the same for dihybrid and monohybrid crosses
Answer: D
Q4) Pure-breeding individuals always have the ____________________ genotype. Answer: homozygous
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Chapter 4: Pedigree Analysis in Human Genetics
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Sample Questions
Q1) A trait shows ____ if the phenotype of that trait is present in less than 100% of those with the related genotype.
A) autosomal recessive inheritance
B) autosomal dominant inheritance
C) incomplete dominance
D) incomplete penetrance
E) incomplete expressivity
Q2) Mitochondrial gene defects most often affect the ____________________ and the ____________________.
Q3) A pedigree is always able to provide enough information to rule out all but one possible pattern of inheritance.
A)True
B)False
Q4) Duchenne muscular dystrophy and Becker's muscular dystrophy are caused by different mutations in the same X-linked gene.
A)True
B)False
Q5) Individuals with Marfan syndrome experience an eyesight problem called
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Chapter 5: The Inheritance of Complex Traits
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Sample Questions
Q1) Discuss Sir Francis Galton's contribution to genetics and identify the important concept that is linked to his observations.
Q2) Describe the breeding program initiated by King Frederick William of Prussia in the early 1700s to supply tall soldiers to the Potsdam Grenadier Guard.Was it successful? Why or why not?
Q3) During interaction between genes and environment,the phenotype ____.
A) changes the genotype
B) is expressed as discontinuous variation
C) is variable and undergoes continuous change throughout the life of the organism
D) can be quantitatively subdivided into genotypic and environmental components
E) cannot vary
Q4) Summarize the results of one of the first investigations of the genetics of skin color.
Q5) Continuous phenotypic variations can be explained by Mendelian inheritance.
A)True
B)False
Q6) Dizygotic twins originate from two separate fertilization events.
A)True
B)False
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Chapter 6: Cytogenetics - Karyotypes and Chromosome
Aberrations
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Sample Questions
Q1) Approximately 40% of all children with Down syndrome have congenital ____________________ defects.
Q2) Explain how to determine if a nondisjunction occurred during meiosis I or meiosis II and what the genetic consequences are for the resulting fertilized gametes.
Q3) If nondisjunction occurs during meiosis I,____.
A) two gametes will be normal and two will be missing one chromosome
B) two gametes will be normal and two will have one extra chromosome
C) three gametes will be normal and one will have two extra chromosomes
D) all gametes will be normal
E) all gametes will be abnormal
Q4) One technique for chromosome analysis is called ____________________,which uses chromosome-specific DNA sequences attached to fluorescent dyes to target specific chromosomal regions.
Q5) A chromosome that has a centrally-placed centromere is called ____________________.
Q6) Early investigators associated the tendency to violent criminal behavior with the ____________________ karyotype,but there is no evidence of a direct link between the two.
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Q7) There are ____________________ chromosomes in a human tetraploid cell.
Chapter 7: Development and Sex Determination
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Sample Questions
Q1) Describe the stages at which genetic sex,gonadal sex,and phenotypic sex are established.
Q2) A Barr body is a(n)____.
A) activated X chromosome
B) inactivated X chromosome
C) immature trophoblast
D) immature blastocyst
E) mature blastocyst
Q3) By the end of the first trimester of pregnancy,all of the major ____________________ have formed and are functional.
Q4) Describe the interactions between genes and the environment in the sex determination of some reptiles; explain their relevance to human sex determination.
Q5) Any physical or chemical agent that brings about an increase in congenital malformations is called a(n)____.
A) teratogen
B) hormone
C) ARX factor
D) cytocin
E) trophoblast
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Chapter 8: The Structure - Replication - and Chromosomal
Organization of DNA
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Sample Questions
Q1) Histones are the ____.
A) major class of proteins in chromatin
B) initiators of DNA replication
C) cause of SARS
D) genes that encode for deoxyribose
E) molecules that prevent strong hydrogen bonding
Q2) The sugar found in DNA is a(n)____________________.
Q3) The H5N1 influenza killed more than 50% of those infected.
A)True
B)False
Q4) Summarize the process of DNA replication and outline the difference between how each strand replicates.
Q5) In RNA,the base ____ takes the place of the base thymine.
A) deoxyribose
B) ribose
C) pentose
D) guanine
E) uracil
Q6) Outline three properties of genes for which the Watson-Crick model offers an explanation. Page 10
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Chapter 9: Gene Expression and Gene Regulation
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Sample Questions
Q1) A proteome is the set of ____________________ present in a particular cell at a specific time under a particular set of conditions.
Q2) The process of post-transcriptional gene silencing triggered by micro-RNA molecules that stop translation is called ____.
A) RNA interference
B) micro-interference
C) translational interference
D) transcriptional disruption
E) disruptive genetic silencing
Q3) The most common mutation in cystic fibrosis is the deletion of a single amino acid which results in a misfolded protein.
A)True
B)False
Q4) An mRNA molecule has a cap attached to its 5' end and a poly-A tail attached to its 3' end.
A)True
B)False
Q5) Proteins are made in the ____________________,but are present in all parts of the cell.
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Chapter 10: From Proteins to Phenotypes
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Sample Questions
Q1) The simplest sugars are called ____________________,and two of these sugars linked together form a(n)____________________.
Q2) Hemoglobin is a(n)____________________-containing protein in red blood cells.
Q3) The study of genetic variations that affect people's responses to environmental agents,including man-made chemicals,is called ____________________.
Q4) The presence of phenylpyruvic acid in urine is directly linked to ____.
A) heart disease
B) colon cancer
C) intellectual disability
D) spina bifida
E) liver cirrhosis
Q5) Women with breast cancers that are estrogen-sensitive ____.
A) become ill when taking prescription estrogen
B) can exacerbate their symptoms with only a small increase in estrogen levels
C) are in danger of faster growth of cancer cells in the presence of estrogen
D) will often experience cancer remission with increased uptake of estrogen
E) do not produce their own estrogen and must obtain it through diet or supplements
Q6) Summarize the metabolic process represented in the accompanying diagram.
Page 13
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Chapter 11: Genome Alterations - Mutation and Epigenetics
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Sample Questions
Q1) Discuss how geneticists have concluded that the X-linked form of hemophilia that spread through the royal families of Western Europe and Russia in the nineteenth and twentieth centuries probably originated with Queen Victoria.
Q2) What occurs in a missense mutation?
A) All of the amino acids beyond the mutation point are changed.
B) A nucleotide is added to the DNA.
C) A nucleotide is deleted from the DNA.
D) A single amino acid is substituted for another in a protein.
E) The protein is always completely nonfunctional.
Q3) Control systems in the cell can induce cell suicide,or apoptosis,in cells with excessive DNA damage.
A)True
B)False
Q4) A purine or pyrimidine that differs in chemical structure from those normally found in DNA or RNA is called a(n)____________________.
Q5) Mutations in germ cells are passed on only to other germ cells in members of future generations.
A)True
B)False
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Chapter 12: Genes and Cancer
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Sample Questions
Q1) List four lines of evidence that support a link between cancer and genetics.Describe the ultimate cause of cancer and how an individual's life-style might reduce the chances of developing cancer.
Q2) When MSH2 and MLH1 are inactivated by mutation,DNA repair is defective and ____________________ mutation rates increase by at least 100-fold.
Q3) All the cells in a cancerous tumor are ____________________ directly descended from one cell.
Q4) A proto-oncogene ____.
A) always becomes cancerous
B) causes cancer
C) encodes tumor-suppressing proteins
D) repairs DNA
E) regulates cell division
Q5) Drug therapies that target only cancer cells rather than all dividing cells in the body stop the growth of cancer by blocking the action of ____________________ proteins on the growth and division on malignant cells.
Q6) Summarize two pathways to colon cancer.
Q7) Outline the four characteristics of cancer.
Page 15
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Chapter 13: An Introduction to Genetic Technology
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Sample Questions
Q1) During the process of gel electrophoresis,the DNA fragments migrate due to the effects of ____.
A) gravity
B) vibrations
C) electrical charge
D) magnetic attraction
E) centrifugal force
Q2) Explain why identical twins are clones.
Q3) During the Southern blot technique,the cut DNA in the gel is ____________________ to single strands to enable a labeled probe to bind to complementary sequences of interest in the fragments.
Q4) The DNA sequencing reaction uses the enzyme DNA polymerase,a primer,and ____________________.
A) a restriction enzyme
B) a self-replicating vector
C) a plasmid RNA
D) the four deoxynucleotides found in DNA
E) the four ribonucleotides found in RNA
Q5) Describe a benefit of cloning plants and animals.
Q6) A human ____________________ can be carried in just over 3,000 YACs.
Page 16
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Chapter 14: Biotechnology and Society
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Sample Questions
Q1) Rape (the plant from which canola oil is produced),sunflowers,and soybeans have been genetically modified to enhance production of ____________________ fatty acids.
Q2) Transgenic plants produced by biotechnology contain fewer introduced genes than altered plants obtained by traditional breeding methods.
A)True
B)False
Q3) Individuals with Pompe disease are unable to metabolize _____,and are treated with a human enzyme produced by _____.
A) glycogen; transgenic hamster cells
B) lactose; transgenic crops
C) insulin; cloned rabbits
D) cellulose; transgenic hamster cells
E) fats; cloned hamster cells
Q4) Why are transgenic animals engineered as models of human disease,rather than studying the disease in humans?
Q5) Ancestry can be traced by maternal lineage using ____________________,and by paternal lineage using ____________________.
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Chapter 15: Genomes and Genomics
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Sample Questions
Q1) Historically,inheritance of _____ was used to study the genome organization,as well as biological processes such as metabolism and development.
A) chromosomal abnormalities
B) blood types
C) SNPs in humans and lab animals
D) induced mutations in humans
E) induced and spontaneous mutations in lab animals
Q2) Data from the Human Genome Project revealed that humans,considered among the most complex of all organisms,have fewer genes and less DNA than some "simpler" organisms. Explain how a species can be more complex than another even though it possesses fewer genes.
Q3) There are _____ microbial cells living on and in our bodies compared to the number of our body cells.
A) ten times more
B) ten times less
C) about the same number of
D) about half as many
E) 100 times more
Q4) A set of SNPs close together on a chromosome is called a(n)____________________.
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Chapter 16: Reproductive Technology - Genetic Testingand Gene Therapy
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Sample Questions
Q1) Early failures of gene therapy included two children who developed ____________________ after receiving gene therapy for X-linked SCID.
Q2) The three components of the female reproductive system that are required for successful reproduction are the eggs,____________________,and
Q3) Approximately _____ of IVF pregnancies result in multiple births.
A) 5%
B) 10%
C) 20%
D) 50%
E) 75%
Q4) Fertilization takes place in the ____________________,and the embryo grows and develops in the ____________________.
Q5) Explain why enzyme replacement therapy cannot cure a genetic disease,and why gene therapy offers the only cure.
Q6) ____________________,one of the earliest methods of ART,was developed primarily to overcome problems with male infertility.
Q7) Discuss the three most important factors for successful reproduction.
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Chapter 17: Genes and The Immune System
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Sample Questions
Q1) The quick response of the immune system to a second infection is due to the _____,a feature of the immune system as demonstrated by the success of vaccines.
A) activation of macrophage cells
B) suppression of suppressor cells
C) T and B memory cells
D) high levels of antigen
E) new cytotoxic T cell.
Q2) Explain why individuals with type O blood can donate to any other blood type,and why individuals with type AB blood can accept blood of any blood type.
Q3) ____________________ result from immunological hypersensitivity to what should be harmless substances.
Q4) How is the human genome able to encode billions of unique antibody molecules from only three gene sets?
Q5) The membrane-attack complex is a group of proteins that supplements the inflammatory response.
A)True
B)False
Q6) Disease-causing infectious agents are known as ____________________.
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Chapter 18: Genetics of Behavior
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Sample Questions
Q1) An ALDH2 allele results in slow alcohol metabolism,leading to an accumulation of acetaldehyde.Therefore,individuals with this allele tend to _____.
A) consume more alcohol than typical social drinkers
B) be protected against alcoholism
C) become alcoholics at high rates
D) contain other alleles that protect against alcoholism
E) have parents who are alcoholics
Q2) Individuals homozygous for the APOE*4 Apolipoprotein E allele are ten to fifteen times more likely to develop _____________________.
Q3) The mutant huntingtin protein is _____________________,meaning that it kills cells,such as those in the brain and nervous system.
Q4) What is the function of a normal MAOA protein?
A) It breaks down neurotransmitters in the synapse.
B) It carries neurotransmitters across synapses.
C) It is a neurotransmitter.
D) It is an enzyme essential in the formation of certain neurotransmitters.
E) It is an enzyme responsible for the construction of neurotransmitter receptors.
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21
Chapter 19: Population Genetics and Human Evolution
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Sample Questions
Q1) According to the theory of evolution,those best adapted to the environment will
A) survive and reproduce
B) not survive
C) produce offspring that are genetically identical to the parents
D) have lower fertility rates
E) have fewer offspring on average
Q2) Hemophilia is an X-linked trait caused by the allele h. About 1 in 10,000 males (0.0001)has hemophilia. The frequency of the h allele in males is therefore
Q3) In the U.S.,many states passed laws against miscegenation,or marriage between individuals of different races.What genetically based arguments would you use in support or opposition to such laws?
Q4) On average,humans differ by _____________________% of their genomic sequences.
Q5) The gradient distributions of alleles across continents reflect _____.
A) the delineation of new races
B) genetic drift
C) human migration patterns
D) protective alleles
E) natural selection
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