Course Introduction
Medical Genetics Exam Preparation Guide
Medical Genetics is an introductory course focused on the genetic mechanisms underlying human health and disease. The course covers principles of inheritance, gene structure and function, chromosomal abnormalities, and the molecular basis of genetic disorders. Students will explore the diagnosis, management, and counseling associated with genetic diseases, as well as ethical considerations in genetic testing and therapy. Emphasis is placed on the application of genetic knowledge to patient care, the use of modern biotechnological techniques in medicine, and the role of genetics in the development of personalized medicine.
Recommended Textbook
Human Genetics and Society 2nd Edition by Ronnee Yashon
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20 Chapters
995 Verified Questions
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Page 2
Chapter 1: Sex and Development
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Sample Questions
Q1) The villi
A) extend into the spaces in the uterine wall.
B) are fingerlike projections.
C) will eventually form part of the placenta.
D) come in contact with the maternal blood.
E) All of these are true.
Answer: E
Q2) the nonspecific gonad develops into this structure in human females
Answer: B
Q3) The process of sex selection
A) is only possible after the egg has been fertilized.
B) is only used to avoid having children with genetic disorders.
C) carries a small risk of miscarriage for the mother.
D) allows a couple to choose the sex of their child.
E) allows a couple to alter the sex of their unborn child.
Answer: D
Q4) XXY
A)Female
B)Male
Answer: B
Page 3
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Chapter 2: Assisted Reproductive Technology
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Sample Questions
Q1) Laparoscopy is a surgical procedure that is used to remove eggs from the donor.
A)True
B)False
Answer: True
Q2) What environmental influence(s)lead(s)to an increased risk of infertility and miscarriages?
A) exposure to lead
B) exposure to ethylene oxide
C) exposure to excessive radiation
D) smoking
E) All of these lead to an increased risk.
Answer: E
Q3) Scrotum
A)Provides a path for sperm to travel to the urethra
B)Holds the testes away from the body
C)Organ of intercourse
D)Produces sperm
E)Stores sperm
Answer: B
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Page 4
Chapter 3: Changes in Chromosome Number
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Sample Questions
Q1) Turner syndrome involves monosomy of the Y chromosome.
A)True
B)False
Answer: False
Q2) Edwards syndrome
A)Trisomy 21
B)XXY
C)XO
D)47, +13
E)Trisomy 18
F)47, XYY
Answer: E
Q3) To produce an individual with Down syndrome (47,+21),
A) a nondisjunction event must have occurred during spermatogenesis.
B) more than one sperm must have been involved in fertilization.
C) a nondisjunction event must have occurred during oogenesis.
D) this must have been caused by uniparental disomy.
E) a nondisjunction event could have occurred during spermatogenesis or oogenesis.
Answer: E
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Page 5
Chapter 4: How Genes Are Transmitted From Generation to Generation
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Sample Questions
Q1) If a male has an X-linked recessive condition such as red-green colorblindness,is it possible for him to pass this condition on to his sons? to his daughters? Explain your answers.
Q2) A phenotype is
A) the physical appearance of an organism.
B) the genetic make-up of an organism.
C) determined by the presence or absence of recessive alleles.
D) a genetic disorder.
E) a dominant allele.
Q3) In the case of dominant disorders,a heterozygote who carries one copy of a mutant dominant allele has the condition.
A)True
B)False
Q4) Very few females have hemophilia A.
A)True
B)False
Q5) Adult-onset disorders occur shortly after birth.
A)True
B)False
Q6) Why do males show a higher incidence of certain genetic disorders than females? Page 6
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Page 7
Chapter 5: Gene Expression and Gene Regulation
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Sample Questions
Q1) All of the following are involved in translation EXCEPT
A) messenger RNA.
B) ribosomes.
C) transfer RNA.
D) AUG initiation codon.
E) RNA polymerase.
Q2) What are the basic subunits of proteins?
A) amino acids
B) peptide bonds
C) carboxyl groups
D) nucleotides
E) codons
Q3) Now,our hypothetical gene has undergone a mutation.The mutant sequence is TACGATAGTACCAGTATT.Transcribe the mutant sequence into mRNA,and determine the amino acid sequence of the resulting polypeptide chain.Determine if the mutation produced a different amino acid sequence in the protein.What do you think the consequence of this mutation would be in terms of protein function?
Q4) What is the role of the promoter sequence in transcription? What would be the effect if there was a mutation in the promoter so that it no longer is recognized as a promoter?
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Chapter 6: Changes in DNA: Mutations and Epigenetics
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Sample Questions
Q1) The mutation rates for different genes are affected by several factors.Which of the following statements about mutation rates for different genes is FALSE?
A) Gene size affects mutation rates for genes.
B) Nucleotide repeats found in some genes can increase in number with each generation.
C) Genes with many adjacent A/T base pairs often have a high mutation rate.
D) The smaller the gene, the lower the mutation rate.
E) Nucleotide composition does not affect mutation rates of genes.
Q2) Which of the following statements about mutations is true?
A) Mutations in body cells can be passed on to future generations.
B) The only changes due to mutation are in the amino acid sequence of proteins.
C) Mutations in body cells are not known to cause any phenotypic changes.
D) All mutations are single-nucleotide substitutions.
E) Mutations in germ cells can be passed on to future generations.
Q3) An average American undergoes a full-body CAT scan.This does not have much of an effect on their annual radiation dose.
A)True
B)False
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Chapter 7: Biotechnology
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Sample Questions
Q1) Restriction enzymes
A) are proteins isolated from certain strains of bacteria that can repair DNA.
B) are enzymes that attach to and cut DNA at specific sequences.
C) recognize and bind to any random sequence in the DNA.
D) are molecules that can help DNA move across the cell wall and enter the bacterial cells.
E) only act on DNA isolated from bacteria.
Q2) Transgenic animal models can be used for
A) studying the development and progression of a disease.
B) developing and testing drugs that hopefully will cure or treat the animal model of the human disease.
C) acting as model organisms with symptoms that mirror those in humans.
D) producing drugs that will be used to treat human diseases.
E) All of these are uses for transgenic animals.
Q3) Transgenic plants have been developed with resistance to herbicides,insects,and viral,bacterial,and fungal diseases.
A)True
B)False
Q4) 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) Genetic testing can determine an individual's genotype.
A)True
B)False
Q2) Prenatal genetic diagnosis is used to determine
A) the fetal genotype.
B) if family members are carriers.
C) if the individual will be completely free of genetic disorders throughout their lifetime.
D) if the parents have a fatal disorder.
E) if the fetus has a functioning kidney.
Q3) Ultrasound is a
A) diagnostic procedure used to directly detect DNA mutations.
B) diagnostic procedure used to analyze family history.
C) noninvasive technique used to image the developing fetus.
D) noninvasive technique used to directly detect abnormal chromosomes.
E) diagnostic procedure used to detect early colon cancer.
Q4) Currently,some genetic conditions can be treated,but none can be cured.
A)True
B)False
Q5) Compare and contrast amniocentesis and chorionic villus sampling (CVS).
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Chapter 9: DNA Forensics
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Sample Questions
Q1) STRs
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
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) DNA profiling has numerous applications.Besides its use providing evidence in criminal cases,list four other applications of this technology.
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Chapter 10: Genomics
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Sample Questions
Q1) Describe how an Alu sequence insertion may have played a role in human evolution.
Q2) How can there be so many more proteins produced by our cells compared to the number of genes that we have?
A) RNA processing in the nucleus creates different messenger RNAs from the same original transcript.
B) Each protein is encoded by several genes.
C) Alternative splicing occurs in a small number of genes.
D) All of the mRNAs produced from a single pre-RNA will contain the same exons.
E) All of these are correct answers.
Q3) Gene therapy typically involves all of the following EXCEPT
A) genetically modified viruses.
B) the transfer of functional genes into cells.
C) growth of modified cells in the lab.
D) transfer of cells back into the body after the gene transfer.
E) isolation and injection of normal proteins into patients.
Q4) Gene therapy is currently used to treat many genetic disorders.
A)True
B)False
Q5) What are some of the legal and ethical questions associated with genomics?
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Chapter 11: Inheritance of Complex Traits
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Sample Questions
Q1) The percentage of adults in the United States who are overweight has increased rapidly in the last 30-40 years.
A)True
B)False
Q2) The premise of an IQ test is that intelligence
A) is an inherited trait that is influenced by environmental factors.
B) is determined by a single gene.
C) is determined entirely by the environment.
D) cannot be expressed in a numerical form.
E) None of these are correct.
Q3) Human fingerprints
A)multifactorial trait
B)intelligence quotient
C)concordance
D)bell curve
E)monozygotic twins
F)developmental dyslexia
G)spina bifida
H)folic acid
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Page 14
Chapter 12: Cancer and the Cell Cycle
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Sample Questions
Q1) What is the normal function of a proto-oncogene?
A) It suppresses mutational events
B) It fights off parasitic infection
C) It prevents protein assembly
D) It turns on cellular division
E) It turns off cellular division
Q2) Ozone depletion
A)Translocation
B)Breast cancer
C)Oncogene
D)Skin cancer
E)Tumor suppressor gene
F)Cervical cancer
G)Lung cancer
Q3) Although an estimated one million new cases of skin cancer are reported in the U.S.in a year,very few of them are related to tanning lamps.
A)True
B)False
Q4) Compare and contrast oncogenes and tumor suppressor genes.
Q5) What is cancer? Why is it considered a complex disease?
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Chapter 13: Behavior
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Sample Questions
Q1) Which of the following statements about homosexual behavior is true?
A) Twin studies indicate that there is no genetic component to homosexual behavior.
B) The genes determining homosexual behavior has been identified on the Y chromosome.
C) Most studies on homosexual behavior have only looked at males.
D) A single gene is responsible for homosexual behavior.
E) Homosexual behavior shows higher concordance in fraternal twins than in identical twins.
Q2) Synapse
A)Gap between nerve cells
B)Brain chemical
C)Responsible for a rush of exhilaration
Q3) All of the following are genetic changes that alter human behavior EXCEPT
A) chromosomal abnormalities.
B) single-gene defects.
C) multiple gene-gene interactions.
D) multifactorial conditions.
E) genetic changes caused by drug usage.
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Chapter 14: Immunogenetics
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Sample Questions
Q1) Blood antigens
A)HLA complex genes
B)HIV
C)ABO
D)Chimeric system
E)Xenograft
F)Hyperacute rejection
G)Mismatch of antigens
H)Vaccination
I)T4 helper cell
Q2) In terms of blood type,what are the blood types of the offspring that can potentially be produced by a mother who has blood type A and a father who has blood type B?
Provide appropriate Punnett squares to illustrate your conclusions.
Q3) HIV infects and kills ____ cells.
A) bacterial
B) killer T
C) red blood
D) B
E) T4 helper
Q4) Discuss how vaccinations work.
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Chapter 15: Genetics and Populations
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Sample Questions
Q1) Dog breeds
A)Used to estimate carrier frequency
B)Lung health problems
C)Percentage of heterozygotes
D)Often provides resistance to some infectious disease
E)Triplet repeats
F)Transmitted by mosquitoes
G)Red blood cells are altered
H)Artificial selection
I)Disclosure of evidence
Q2) How can we use the Hardy-Weinberg equation?
A) The equation is useful for the analysis of multifactorial traits.
B) It is a test that can tell the difference between carriers of mutant alleles and those who do not have the allele at all.
C) The Hardy-Weinberg can be used to calculate how many identical twins there are in a population.
D) The Hardy-Weinberg equation can be used to estimate the carrier frequencies in populations.
E) It gives a clue to the function of a gene.
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18
Chapter 16: Human Evolution
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Sample Questions
Q1) Human populations from _____ have the highest degree of genetic diversity.
A) Africa
B) Siberia
C) Asia
D) Europe
E) Australo-Melanesia
Q2) Fossil evidence indicates that ____ originated between 200,000 and 100,000 years ago in Africa.
A) Homo sapiens
B) Homo neanderthalensis
C) Homo erectus
D) Homo floresiensis
E) Homo habilis
Q3) DNA sequence analysis indicates that Neanderthals were
A) not direct ancestors of humans.
B) direct ancestors of humans.
C) completely unrelated to humans.
D) most likely a completely separate lineage of primates that just happened to evolve to resemble humans.
E) the closest known relatives of humans.
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Chapter 17: A Different World: The Past, Present, and Future
of Human Genetics
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Sample Questions
Q1) The U.S.Supreme Court eventually decided that Carrie Buck should not be sterilized because she was not "feeble-minded"
A)True
B)False
Q2) Discuss the importance of the HLA complex genes in successful organ transplants.
Q3) Non-invasive prenatal testing for Down syndrome has recently been accomplished using
A) fetal cell analysis in the mother's blood.
B) amniocentesis.
C) saliva samples from the mother.
D) chorionic villus sampling.
E) free fetal DNA analysis.
Q4) The procedure that removes all of a woman's breast tissue is called A) BRACAnalysis®.
B) cutaneous mastectomy.
C) nuclear transfer.
D) subcutaneous mastectomy.
E) mammography.
Page 20
Q5) What is an antigen? What is an antibody? Identify the role of each substance in the immune response.
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Chapter 18: Biology Basics 1-Cells and Cell Structure
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Q1) plasma membrane
Q2) nucleus
Q3) The instructions for making all the different types of cells in a human are encoded in the DNA of every cell.
A)True
B)False
Q4) The plasma membrane
A) has attached ribosomes.
B) is studded with pores.
C) keeps cytoplasm from entering the cell.
D) is a site for energy production in a human cell.
E) regulates the movement of materials such as water, oxygen and nutrients.
Q5) All of the following are typically present in or on the surface of the plasma membrane EXCEPT
A) cholesterol.
B) lipids.
C) chromosomes.
D) channel proteins.
E) HLA markers.
Q6) cytoplasm
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Chapter 18: Biology Basics 2-DNA and RNA
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Q1) How can UV light exposure cause DNA mutations?
A) The UV light disrupts normal base pairing of the DNA at the site of the damage.
B) The UV light disrupts the DNA repair systems in the cell.
C) The UV light changes the DNA polymerase so it makes more mistakes.
D) The UV light causes breaks in the DNA strands.
E) The UV light separates the two strands of the double helix.
Q2) Which one of the following nitrogenous bases is not found in DNA?
A) uracil
B) adenine
C) guanine
D) cytosine
E) thymine
Q3) One of Rosalind Franklin's X-ray diffraction photos was crucial for Watson and Crick to develop their model of DNA.
A)True
B)False
Q4) DNA is found in both the nucleus and cytoplasm.
A)True
B)False
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Q1) Rheumatoid Arthritis is considered an autoimmune disease. A)True
B)False
Q2) Which of the following statements about estrogen-sensitive breast cancer is true?
A) Patients who have estrogen-sensitive breast cancer always metabolize the drug tamoxifen slowly.
B) Patients who have estrogen-sensitive breast cancer always metabolize the drug tamoxifen rapidly.
C) Patients who have estrogen-sensitive breast cancer have tumor cells that do not have estrogen receptors on their surface
D) Patients who have estrogen-sensitive breast cancer have tumor cells with estrogen receptors on their surface and the absence of estrogen in the body promotes the growth of the cancer.
E) Patients who have estrogen-sensitive breast cancer have tumor cells with estrogen receptors on their surface and the presence of estrogen in the body promotes the growth of the cancer.
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