Test Bank For Genetics and Genomics in Medicine 2nd Edition By Tom Strachan, Anneke Lucassen
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Medical Genetics
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Medical Genetics
Chapter 5. Single-gene Disorders: Inheritance Patterns, Phenotype Variability, and Allele
Frequencies
1. What is the inheritance pattern of Huntington's disease?
A. Autosomal recessive
B. X-linked recessive
C. Autosomal dominant
D. Mitochondrial inheritance
Answer: C
Rationale: Huntington�...
Test Bank For Genetics and Genomics
in Medicine 2nd Edition
By Tom Strachan, Anneke Lucassen
@2024
,Chapter 1: Fundamentals of DNA, Chromosomes, and Cells
1. The nurse is educating a patient on DNA structure. Which of the following
accurately describes the components of a DNA nucleotide?
A. Phosphate group, deoxyribose sugar, nitrogenous base
B. Phosphate group, ribose sugar, nitrogenous base
C. Ribose sugar, uracil, phosphate group
D. Nitrogenous base, amino acid, deoxyribose sugar
Answer: A
Rationale: DNA is composed of nucleotides, each of which includes a phosphate group,
a deoxyribose sugar, and a nitrogenous base (adenine, thymine, cytosine, or guanine).
NCLEX preference: Physiological adaptation
2. In DNA replication, which enzyme is responsible for unwinding the DNA double
helix?
A. DNA polymerase
B. Helicase
C. Ligase
D. Topoisomerase
Answer: B
Rationale: Helicase unwinds the DNA double helix by breaking the hydrogen bonds
between the nucleotide pairs, allowing replication to proceed.
NCLEX preference: Physiological adaptation
3. Which of the following correctly matches the base-pairing rules in DNA?
A. Adenine pairs with cytosine; guanine pairs with thymine
B. Adenine pairs with thymine; guanine pairs with cytosine
C. Adenine pairs with guanine; cytosine pairs with thymine
D. Adenine pairs with uracil; guanine pairs with thymine
Answer: B
Rationale: In DNA, adenine (A) pairs with thymine (T), and guanine (G) pairs with
cytosine (C). This is known as complementary base pairing.
NCLEX preference: Physiological adaptation
4. A nurse is explaining the process of protein synthesis. Which of the following best
describes transcription?
A. The conversion of DNA to RNA in the nucleus
B. The conversion of RNA to DNA in the cytoplasm
C. The assembly of amino acids into a protein
D. The replication of DNA before cell division
Answer: A
Rationale: Transcription is the process where DNA is used as a template to synthesize
messenger RNA (mRNA) in the nucleus.
NCLEX preference: Physiological adaptation
5. Which statement accurately describes a gene?
A. A segment of DNA that codes for a specific protein
B. A segment of RNA that codes for a carbohydrate
C. A sequence of nucleotides that provides energy for the cell
D. A sequence of amino acids that determines cell function
, Answer: A
Rationale: A gene is a segment of DNA that provides instructions for making a specific
protein, which plays a role in the function and regulation of the body’s tissues and
organs.
NCLEX preference: Physiological adaptation
6. The nurse is teaching a group of nursing students about cell division. During which
phase of the cell cycle does DNA replication occur?
A. G1 phase
B. S phase
C. G2 phase
D. M phase
Answer: B
Rationale: DNA replication occurs during the S (Synthesis) phase of the cell cycle to
ensure that each daughter cell receives an identical set of chromosomes.
NCLEX preference: Physiological adaptation
7. A patient has been diagnosed with a chromosomal disorder. Which of the following
is the normal number of chromosomes in a human somatic cell?
A. 22
B. 23
C. 46
D. 44
Answer: C
Rationale: Human somatic (body) cells normally contain 46 chromosomes (23 pairs),
which include 22 pairs of autosomes and 1 pair of sex chromosomes.
NCLEX preference: Physiological adaptation
8. Which of the following structures contains the genetic material of the cell?
A. Ribosomes
B. Mitochondria
C. Nucleus
D. Endoplasmic reticulum
Answer: C
Rationale: The nucleus contains the genetic material (DNA) of the cell, organized into
chromosomes.
NCLEX preference: Physiological adaptation
9. A patient’s karyotype shows an extra chromosome 21. This condition is known as
which of the following?
A. Turner syndrome
B. Klinefelter syndrome
C. Down syndrome
D. Edwards syndrome
Answer: C
Rationale: Down syndrome (trisomy 21) is characterized by the presence of an extra
copy of chromosome 21, leading to developmental delays and physical characteristics
typical of the disorder.
NCLEX preference: Physiological adaptation
, 10. Which type of RNA is responsible for carrying amino acids to the ribosome during
translation?
A. mRNA
B. tRNA
C. rRNA
D. snRNA
Answer: B
Rationale: Transfer RNA (tRNA) carries amino acids to the ribosome, where they are
added to the growing polypeptide chain during protein synthesis (translation).
NCLEX preference: Physiological adaptation
11. A nurse explains to a patient that mutations in DNA can be inherited or acquired.
Which of the following is an example of an acquired mutation?
A. A mutation passed down from parent to child
B. A mutation caused by UV light exposure
C. A mutation found in all cells of the body
D. A mutation caused by faulty DNA replication during meiosis
Answer: B
Rationale: Acquired mutations are changes in the DNA that occur after conception, often
due to environmental factors such as UV light, chemicals, or radiation.
NCLEX preference: Reduction of risk potential
12. A patient with a mutation in their mitochondrial DNA asks about the inheritance
pattern. The nurse correctly explains that mitochondrial DNA is inherited from
which parent?
A. Father
B. Mother
C. Both parents equally
D. Random assortment
Answer: B
Rationale: Mitochondrial DNA is inherited exclusively from the mother because the egg
provides the cytoplasm (and mitochondria) to the embryo, while sperm contribute only
nuclear DNA.
NCLEX preference: Physiological adaptation
13. Which of the following processes ensures genetic diversity during meiosis?
A. DNA replication
B. Crossing over
C. Cytokinesis
D. Transcription
Answer: B
Rationale: During meiosis, crossing over occurs between homologous chromosomes,
which leads to the exchange of genetic material and promotes genetic diversity in
offspring.
NCLEX preference: Physiological adaptation
14. The nurse is reviewing the concept of chromosomal abnormalities with students.
Which term describes a cell that contains an abnormal number of chromosomes?
A. Polyploid
B. Euploid
