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Test Bank For Genetics and Genomics in Medicine 2nd Edition By Tom Strachan, Anneke Lucassen

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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’s disease is an autosomal dominant disorder, which means that only one copy of the mutated gene is necessary for an individual to develop the disease. It is caused by an expansion of CAG trinucleotide repeats in the HTT gene. NCLEX preference: Physiological adaptation 2. In autosomal recessive disorders, what is the probability that two carrier parents will have an affected child? A. 100% B. 50% C. 25% D. 0% Answer: C Rationale: In autosomal recessive inheritance, both parents must carry one copy of the mutated gene. The probability of having an affected child (with two copies of the mutation) is 25%. NCLEX preference: Physiological adaptation 3. Which of the following disorders is inherited in an X-linked recessive manner? A. Cystic fibrosis B. Marfan syndrome C. Hemophilia A D. Huntington’s disease Answer: C Rationale: Hemophilia A is an X-linked recessive disorder. Males are more commonly affected because they have only one X chromosome, so any mutation on that chromosome results in the disorder. NCLEX preference: Physiological adaptation 4. In autosomal dominant disorders, what is the likelihood that an affected individual will pass the disorder to their offspring? A. 25% B. 50% C. 75% D. 100% Answer: B Rationale: In autosomal dominant inheritance, an affected individual has a 50% chance of passing the mutated gene to each offspring. This occurs because only one copy of the mutated gene is necessary for the disorder to be expressed. NCLEX preference: Physiological adaptation 5. Which of the following best describes incomplete penetrance in a genetic disorder? A. All individuals with the mutation exhibit symptoms B. Some individuals with the mutation do not exhibit symptoms C. The severity of symptoms varies in individuals with the mutation D. The disorder is only present in females Answer: B Rationale: Incomplete penetrance occurs when not all individuals who inherit a disease-causing mutation exhibit symptoms of the disorder. This can occur due to environmental factors, genetic modifiers, or other influences. NCLEX preference: Health promotion and maintenance 6. What is the inheritance pattern of cystic fibrosis? A. Autosomal recessive B. X-linked dominant C. Autosomal dominant D. Mitochondrial inheritance Answer: A Rationale: Cystic fibrosis is an autosomal recessive disorder caused by mutations in the CFTR gene. Both parents must carry one copy of the mutated gene for a child to develop the disease. NCLEX preference: Physiological adaptation 7. Which of the following disorders is associated with genetic anticipation? A. Sickle cell anemia B. Huntington's disease C. Cystic fibrosis D. Down syndrome Answer: B Rationale: Genetic anticipation refers to the phenomenon where symptoms of a genetic disorder appear at an earlier age and with greater severity in successive generations. This is seen in Huntington's disease due to an increasing number of CAG repeats in the HTT gene. NCLEX preference: Physiological adaptation 8. What is an example of a disorder caused by a mutation in mitochondrial DNA? A. Huntington’s disease B. Cystic fibrosis C. Leber hereditary optic neuropathy D. Hemophilia B Answer: C Rationale: Leber hereditary optic neuropathy is caused by mutations in mitochondrial DNA. Mitochondrial disorders are maternally inherited because only the mother’s mitochondria are passed to offspring. NCLEX preference: Physiological adaptation 9. In X-linked dominant disorders, what is the likelihood that an affected father will pass the disorder to his daughters? A. 0% B. 25% C. 50% D. 100% Answer: D Rationale: In X-linked dominant inheritance, affected fathers pass the disorder to all of their daughters because daughters inherit their father’s X chromosome. Sons do not inherit the disorder from their father because they inherit the Y chromosome. NCLEX preference: Physiological adaptation 10. Which of the following is a characteristic of autosomal recessive inheritance? A. Affected individuals have at least one affected parent B. The disorder is more common in males C. Carriers do not usually exhibit symptoms D. Affected individuals always have a family history of the disorder Answer: C Rationale: In autosomal recessive disorders, carriers typically have one mutated gene and one normal gene and do not exhibit symptoms. The disorder only manifests when an individual inherits two mutated alleles. NCLEX preference: Physiological adaptation 11. What is the genetic basis of sickle cell anemi

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Institution
Medical Genetics
Course
Medical Genetics

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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

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