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Test Bank Thompson & Thompson Genetics in Medicine 8th Edition Authors Robert L. Nussbaum, Roderick R. McInnes, Huntington F Willard.
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Medical genetics
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Medical Genetics
Chapter 8: Complex Inheritance of Common Multifactorial Disorders
1. Which of the following is characteristic of multifactorial inheritance?
A) Disorders caused by a single gene mutation
B) Disorders influenced by both genetic and environmental factors
C) Disorders only transmitted through mito...
Test Bank Thompson & Thompson Genetics in Medicine
8th Edition
Authors: Robert L. Nussbaum, Roderick R. McInnes, Huntington F Willard
@2024
,Chapter 1: Introduction to Genetics
1. Which of the following best defines genetics?
A) The study of the structure and function of DNA
B) The study of heredity and variation in organisms
C) The study of the genetic basis of disease
D) The study of the evolution of species
Answer: B
Rationale: Genetics is defined as the study of heredity and variation in organisms.
2. What is the primary function of DNA?
A) To provide energy for cellular processes
B) To store and transmit genetic information
C) To catalyze biochemical reactions
D) To form the structural basis of cells
Answer: B
Rationale: The primary function of DNA is to store and transmit genetic information
necessary for the growth, development, and reproduction of organisms.
3. Which of the following terms refers to observable characteristics of an
organism?
A) Genotype
B) Phenotype
C) Allele
D) Locus
Answer: B
Rationale: The phenotype refers to the observable characteristics or traits of an
organism, influenced by both genetic and environmental factors.
4. What is the term for a variant form of a gene?
A) Allele
B) Genotype
C) Chromosome
D) Locus
Answer: A
Rationale: An allele is a variant form of a gene that can exist at a specific locus on a
chromosome.
5. In the context of genetics, what does the term "homozygous" mean?
A) Having two different alleles for a particular gene
B) Having two identical alleles for a particular gene
, C) Having multiple alleles for a single gene
D) Having no alleles for a particular gene
Answer: B
Rationale: Homozygous refers to having two identical alleles for a particular gene,
while heterozygous means having two different alleles.
6. Which of the following best describes the role of chromosomes in genetics?
A) They are the units of heredity passed from parents to offspring.
B) They are the structures that contain DNA and associated proteins.
C) They determine the physical traits of an organism.
D) They are responsible for the replication of DNA.
Answer: B
Rationale: Chromosomes are structures that contain DNA and associated
proteins, playing a key role in the organization and expression of genetic material.
7. What is the function of ribonucleic acid (RNA) in the cell?
A) To provide structural support
B) To store genetic information
C) To translate genetic information into proteins
D) To replicate DNA
Answer: C
Rationale: RNA plays a crucial role in translating genetic information from DNA into
proteins through processes like transcription and translation.
8. Which genetic disorder is caused by a mutation in the CFTR gene?
A) Sickle cell anemia
B) Cystic fibrosis
C) Huntington's disease
D) Down syndrome
Answer: B
Rationale: Cystic fibrosis is caused by mutations in the CFTR gene, which affects
the transport of chloride ions across cell membranes.
9. Which of the following represents a common mechanism of genetic
inheritance?
A) Mitochondrial inheritance
B) Epigenetic inheritance
C) Polygenic inheritance
D) All of the above
Answer: D
Rationale: All the options represent common mechanisms of genetic inheritance
that can affect the expression of traits and the risk of genetic disorders.
, 10. What is the purpose of genetic counseling?
A) To diagnose genetic disorders
B) To provide information and support to individuals and families regarding genetic
conditions
C) To perform genetic testing
D) To determine the mode of inheritance of a trait
Answer: B
Rationale: Genetic counseling aims to provide information, support, and guidance
to individuals and families regarding genetic conditions and the implications for
health and disease.
12. Which of the following is an example of a monogenic disorder?
A) Diabetes mellitus type 2
B) Cystic fibrosis
C) Hypertension
D) Autism spectrum disorder
Answer: B
Rationale: Monogenic disorders, such as cystic fibrosis, result from mutations in a
single gene.
13. What is a characteristic of autosomal recessive inheritance?
A) Males are more affected than females.
B) Only one mutated allele is required for the disorder to be expressed.
C) The disorder appears only when both alleles are mutated.
D) The trait skips generations.
Answer: C
Rationale: Autosomal recessive disorders require two mutated alleles (one from
each parent) for the condition to be expressed.
14. Which process leads to the formation of gametes with half the usual number of
chromosomes?
A) Mitosis
B) Meiosis
C) Replication
D) Translation
Answer: B
Rationale: Meiosis is a type of cell division that results in gametes with half the
number of chromosomes as the parent cell, essential for sexual reproduction.
15. Which of the following best describes a genotype?
A) The physical expression of a trait
B) A pair of chromosomes
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