Course Introduction
Genetics in Medicine
Final Test Solutions
Genetics in Medicine explores the principles of human genetics and their applications in medical practice. Students will examine the molecular basis of genetic diseases, patterns of inheritance, and the relationship between genotype and phenotype. The course covers diagnostic techniques such as genetic testing and genome analysis, as well as the ethical, legal, and social implications of genetic information. Clinical case studies illustrate how genetic knowledge guides the diagnosis, management, and treatment of various conditions, emphasizing the growing importance of personalized and precision medicine in healthcare.
Recommended Textbook
Human Genetics and Society 2nd Edition by Ronnee Yashon
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20 Chapters
995 Verified Questions
995 Flashcards
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Page 2
Chapter 1: Sex and Development
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Sample Questions
Q1) fallopian tube
Answer: A
Q2) Sperm sorting relies on _________________ between sperm carrying the X chromosome and sperm carrying the Y chromosome.
A) differences in electrical charges
B) direct microscopic examination and recognition of visual differences
C) differences in the swimming speed
D) magnetic differences
E) differences in the amounts of fluorescent dye binding.
Answer: E
Q3) implantation will occur here
Answer: D
Q4) Blastocyst
A)finger-like projections
B)large hollow ball of cells
C)attachment of embryo to uterus
D)source of embryonic stem cells
E)hCG is produced by this membrane
Answer: B
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Chapter 2: Assisted Reproductive Technology
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Sample Questions
Q1) Which pairing is INCORRECT?
A) epididymis - storage of sperm
B) seminiferous tubules - spermatogenesis
C) urethra - exit of sperm from body
D) vas deferens - sperm move through this
E) scrotum - secretions are part of semen
Answer: E
Q2) What is the role of the uterus?
A) It produces eggs.
B) It serves as the birth canal.
C) It holds the embryo and the fetus during pregnancy.
D) It facilitates egg movement through the fallopian tubes.
E) It connects the fallopian tubes and the ovaries.
Answer: C
Q3) Hormonal problems in women account for about 75 percent of all cases where ovulation does not occur.
A)True
B)False
Answer: False
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Page 4
Chapter 3: Changes in Chromosome Number
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Sample Questions
Q1) What kinds of chromosomal defects invariably result in miscarriage in early pregnancy?
A) all trisomies involving autosomes
B) all monosomies involving autosomes
C) all monosomies involving the sex chromosomes
D) all trisomies involving chromosome 21
E) all trisomies involving the sex chromosomes
Answer: B
Q2) Amniocentesis
A) involves removal of fluid and cells from around the fetus.
B) is usually used to determine if a female is pregnant.
C) is performed at or around the 12th week of pregnancy
D) involves a risk of about 1% for miscarriage
E) has a high risk for the mother's health.
Answer: A
Q3) Nondisjunction events can lead to aneuploidy.
A)True
B)False
Answer: True
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Page 5
Chapter 4: How Genes Are Transmitted From Generation to Generation
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Sample Questions
Q1) In neurofibromatosis,a(n)____ gene produces many different types of phenotypes.
A) mutant
B) normal
C) recessive
D) X-linked
E) Y-linked
Q2) Genetic counselors typically construct pedigrees
A) whenever a baby is born with a genetic birth defect.
B) to use evidence in criminal trials.
C) when an individual requests genetic counseling.
D) only for families with members who have cystic fibrosis.
E) for every individual they counsel.
Q3) Cystic fibrosis
A)autosomal recessive
B)autosomal dominant
C)X-linked recessive
Q4) Hemophilia A
A)autosomal recessive
B)autosomal dominant
C)X-linked recessive
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Chapter 5: Gene Expression and Gene Regulation
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Sample Questions
Q1) Beta globin
A) combines with gamma globin to produce hemoglobin.
B) comes in three versions.
C) is absent in individuals with sickle cell anemia.
D) is the only polypeptide present in hemoglobin.
E) is present in a shortened, non-functional form in individuals with sickle cell anemia.
Q2) Transcribe this gene into mRNA and then use the genetic code table to determine the amino acid sequence of the resulting polypeptide chain (protein).Remember to start translation where the ribosome would.
Q3) Hemoglobin is made up of
A) four identical protein chains.
B) two different protein chains.
C) four different protein chains.
D) three identical protein chains.
E) none of these.
Q4) Changing how tightly the DNA is wound does not affect gene expression.
A)True
B)False
Q5) carboxyl group
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Chapter 6: Changes in DNA: Mutations and Epigenetics
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Sample Questions
Q1) Researchers have found that when radiation doses are below _____,the major risk is an increase in the risk of cancer.
A) 100,000 rem
B) 360 mrem
C) 1 rem
D) 5000 rem
E) 5000 mrem
Q2) cell suicide
A)genome
B)millirem
C)apoptosis
D)histones
E)free radical
F)imprinting
G)proofreading
H)mutation
I)methylation
J)frameshift
K)senescence
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Page 8
Chapter 7: Biotechnology
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Sample Questions
Q1) What are restriction enzymes,plasmids,and recombinant DNA molecules? Describe the steps involved in the production of recombinant DNA molecules.
Q2) Humans have only been able to genetically modify agricultural plants and animals since recombinant DNA technology was developed.
A)True
B)False
Q3) Restriction enzyme
A)An animal or plant that carries a gene from another species
B)Important source of organs for transplants
C)An animal model for cancer
D)Proteins that cut DNA in specific places
E)Source for the production of human growth hormone
F)Beta-carotene
G)Carrier molecules used in recombinant DNA technology
H)An animal model for immune deficiency disorders
Q4) What advantages has biotechnology provided over previous methods to produce genetically modified crops?
Q5) What are GM crops? Describe the advantages and concerns with the use of these crops.
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Chapter 8: Genetic Testing and Prenatal Diagnosis
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Sample Questions
Q1) All individuals with adult polycystic kidney disease (ADPKD)carry two copies of the mutant allele.
A)True
B)False
Q2) A 30-year-old man comes from a family with a history of Huntington disease.What type of testing should he be considering?
A) Presymptomatic testing
B) Prenatal diagnosis
C) Ultrasonography
D) Carrier testing for his wife
E) Amniocentesis.
Q3) In 1972,Congress passed a law that established a screening program to identify carriers of sickle cell anemia.
A)True
B)False
Q4) Currently there are no programs requiring that people be tested to see if they are carriers for a genetic disease.If this changed,would you support such a policy? Why or why not? Include arguments both for and against such a policy.
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Chapter 9: DNA Forensics
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Sample Questions
Q1) All of the following are required to perform PCR EXCEPT
A) DNA primers.
B) DNA polymerase.
C) specialized machinery.
D) sample DNA.
E) restriction enzymes.
Q2) mtDNA
A)useful for tracking maternal ancestry
B)passed only from fathers to sons
C)information stored in CODIS
D)a series of specific DNA markers
E)repeated sequences of 10-100 base pairs in length
F)DNA differences that are only one base pair long
G)method to make many copies of a segment of DNA
H)analysis using restriction enzymes
Q3) Various recommendations have been made concerning DNA profiling of all persons who have committed a felony.Would you consider this a violation of the individual's human rights? Indicate how this type of information could be useful in locating and identifying criminals implicated in future assaults and rapes and in the associated court cases?
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Chapter 10: Genomics
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Sample Questions
Q1) Positional cloning
A) uses random cloning to isolate genes.
B) starts by sequencing the entire chromosome containing the gene of interest.
C) makes use of particular markers on the DNA.
D) makes use of the location of Alu sequences.
E) All of these are correct answers
Q2) What are some of the legal and ethical questions associated with genomics?
Q3) All of the following are types of repeats found in the human genome EXCEPT A) Alu sequences.
B) LINE 1 sequences.
C) transposons
D) STRs.
E) All of these are repetitive sequences in the genome.
Q4) What is gene therapy? Describe how gene therapy can be used to correct genetic disorders.
Q5) Human cells can produce many more proteins that the number of genes present in the genome.Describe two mechanisms that help to explain this difference.
Q6) How have SNPs identified by the Human Genome Project been used to locate genes involved in complex genetic diseases?
Page 12
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Chapter 11: Inheritance of Complex Traits
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Sample Questions
Q1) Often useful to study complex traits in humans
A)multifactorial trait
B)intelligence quotient
C)concordance
D)bell curve
E)monozygotic twins
F)developmental dyslexia
G)spina bifida
H)folic acid
Q2) Which of the following diseases are multifactorial?
A) cystic fibrosis
B) spina bifida
C) albinism
D) severe combined immunodeficiency disorder (SCID)
E) All of these diseases are multifactorial.
Q3) All complex traits exhibit a wide range of phenotypes.
A)True
B)False
Q4) What is the difference between simple traits and complex traits? What are polygenic and multifactorial traits?
Page 13
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Chapter 12: Cancer and the Cell Cycle
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Sample Questions
Q1) All of the following are characteristics of benign tumors EXCEPT they A) do not increase in size.
B) do not spread.
C) can sometimes be present as cysts.
D) cause problems only when they become large enough to interfere with the normal functioning of neighboring organs.
E) are considered noncancerous.
Q2) Compare and contrast oncogenes and tumor suppressor genes.
Q3) Lightly pigmented people are at lower risk of skin cancer that heavily pigmented individuals.
A)True
B)False
Q4) Familial adenomatous polyposis
A)Translocation
B)Breast cancer
C)Oncogene
D)Skin cancer
E)Tumor suppressor gene
F)Cervical cancer
G)Lung cancer
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Chapter 13: Behavior
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Sample Questions
Q1) Researchers are identifying more genetic factors affecting behavior.With this information,it will be possible to test fetuses and babies for predisposing genetic factors affecting behavior.Discuss the advantages and disadvantages of such testing.You could consider possible treatments,discrimination,and/or effects on the individual and their family.
Q2) Changes in a single gene can affect a person's behavior.
A)True B)False
Q3) Schizophrenia is a
A) multifactorial condition that affects behavior.
B) recessive genetic condition that affects behavior.
C) only determined by environmental conditions.
D) disorder that develops due to exposure to toxins.
E) disorder that cannot be treated.
Q4) Discuss how information about the behavioral genetics of other organisms can be used in human genetics..
Q5) All XYY individuals show antisocial behaviors. A)True B)False
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Chapter 14: Immunogenetics
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Sample Questions
Q1) In determining the ABO blood types,the I is _____ the I allele.
A) completely dominant over B) incompletely dominant with C) codominant with D) not related to E) recessive to
Q2) HIV infects cells of the immune system and can lead to AIDS.
A)True
B)False
Q3) Rejection of an organ transplant can occur because the
A) patient has received a vaccination against organ transplants.
B) Rh- mother has produced antibodies against the Rh antigen.
C) antigens on the transplanted organ cells' surface do not match those on the recipients' cells.
D) patient has been given immunosuppressive drugs.
E) HLA haplotype for the transplanted organ matches that of the recipient.
Q4) What blood type is considered to be the universal donor? Which is the universal recipient? What do these terms mean?
Q5) Describe the problems that arise from (a)maternal Rh incompatibility and (b)ABO blood type incompatibility?
Page 16
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Chapter 15: Genetics and Populations
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Sample Questions
Q1) How might it be an advantage for a population to have a large number of carriers of a gene that causes a genetic disorder such as sickle cell anemia or cystic fibrosis?
Q2) Pedigrees can be helpful in tracking a condition through a large population.
A)True
B)False
Q3) Malaria is transmitted from person to person via A) mosquitoes.
B) direct contact with an infected individual.
C) food.
D) bacteria.
E) contact with bodily fluids of an infected individual.
Q4) Which of the following is true about the Y chromosome?
A) All humans have a copy of the Y chromosome.
B) It passes from fathers to all of his children.
C) It is constantly changing from generation to generation.
D) It can be used to trace maternal ancestry.
E) It can be used to trace paternal ancestry.
Q5) What is population genetics? Why do geneticists sometimes study particular populations?
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Chapter 16: Human Evolution
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Q1) Which of the following statements is TRUE?
A) Genomic analysis indicates that there was interbreeding between Homo sapiens and Homo neanderthalensis.
B) Genomic analysis indicates that there was interbreeding between Homo sapiens and Homo floresiensis.
C) Genomic analysis indicates that there was interbreeding between Homo neanderthalensis and Homo floresiensis.
D) Genomic analysis indicates that there was interbreeding between Homo sapiens, Homo neanderthalensis, and Homo floresiensis.
E) Genomic analysis indicates that there was no interbreeding between Homo sapiens and Homo neanderthalensis.
Q2) The genomes of Homo sapiens and Homo neanderthalensis are less similar than the genomes of Homo sapiens and chimpanzees.
A)True
B)False
Q3) The ability of adults to digest lactose is shared among all mammals.
A)True
B)False
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Chapter 17: A Different World: The Past, Present, and Future
of Human Genetics
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Sample Questions
Q1) To clone an organism using reproductive cloning,a body cell from the individual being cloned is first
A) removed from the "parent" organism, and its diploid nucleus is transferred to an egg cell that has had its nucleus removed.
B) stimulated to undergo cell division.
C) transferred to the uterus of a surrogate mother.
D) transferred into the "parent" organism.
E) removed from the "parent" organism, stimulated to undergo cell division, and then returned to the original organism
Q2) Discuss the importance of the HLA complex genes in successful organ transplants.
Q3) Knockout mice have been useful in modeling different kinds of cancer,diabetes,and cardiovascular disease.
A)True
B)False
Q4) Discuss the eugenics movement in the United States.What was the basis for this movement? How did this movement influence Nazi Germany?
Q5) What blood type is considered to be the universal donor? Which is the universal recipient? What do these terms mean?
Page 19
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Chapter 18: Biology Basics 1-Cells and Cell Structure
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Sample Questions
Q1) mitochondrion
Q2) Homologous chromosomes are members of a pair of chromosomes.
A)True
B)False
Q3) Mitosis refers to
A) division that produces genetically identical daughter cells.
B) the fusion of sperm and egg.
C) cell division by germ cells.
D) cell division that produces sperm and eggs.
E) errors in genetic information.
Q4) The lysosomes
A) contain digestive enzymes.
B) are involved in energy production.
C) contain chromatin.
D) are the sites of protein synthesis.
E) are not known to be involved in any genetic disorders.
Q5) lysosome
Q6) cytoplasm
Q7) nucleus
Q8) plasma membrane
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Chapter 18: Biology Basics 2-DNA and RNA
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Sample Questions
Q1) Which of the following statements about DNA is FALSE?
A) Complementary nitrogenous bases can base pair.
B) In DNA, the nitrogenous base adenine pairs with uracil.
C) DNA is typically double stranded.
D) Genetic information is stored in the sequence of bases.
E) The complementary sequence of bases in the two strands of DNA explains how DNA copies itself before each cell division.
Q2) All of the following describe functions of DNA polymerase EXCEPT
A) produces DNA molecules that contain one old strand and one new strand.
B) adds complementary base pairs to the growing strand.
C) links together nucleotides.
D) detects errors in the replication process and corrects the mistake.
E) produces RNA molecules.
Q3) Which of the following components is NOT present in RNA?
A) thymine
B) phosphate group
C) uracil
D) ribose
E) cytosine
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Page 21
Chapter 18: Biology Basics 3-Genes, Populations, and the Environment
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Sample Questions
Q1) What did Linda Bartoshuk and her colleagues at Yale University discover regarding supertasters?
A) The ability to taste PTC seems to have a genetic basis.
B) The genetics of PTC tasting has an impact on diet and the food choices of people.
C) The distribution of PTC tasters is the same throughout all parts of the world.
D) The greater the number of taste buds a person has, the more likely they will enjoy hot peppers.
E) The number of taste buds a person has is determined by the environment.
Q2) Rheumatoid Arthritis is considered an autoimmune disease.
A)True
B)False
Q3) Which of the following statements about the ability to taste PTC is true?
A) Nontasters of PTC are homozygous for the gene.
B) Tasters find PTC has a pleasant sweet taste.
C) Everyone can taste PTC, but to different degrees.
D) The distribution of PTC tasters is the same throughout all parts of the world.
E) Tasters of PTC are homozygous for the gene.
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Page 22