,NSG 533 Exam 2 | Advanced Pharmacology | Wilkes
University | Q & A | 2026/2027 Edition (PDF)
1. Which of the following best describes the study of inherited traits and their variation at the individual
level?
A) Genomics
B) Genetics
C) Pharmacogenomics
D) Epigenetics
Correct Answer: Genetics
Expert Rationale: Genetics is the study of inherited traits and their variation at the individual level.
Genomics, by contrast, analyzes the entire genome of a species. Pharmacogenomics examines how
genetic variation affects drug response, and epigenetics involves heritable changes in gene expression
without DNA sequence alteration.
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2. What is the primary distinction between a balanced and an unbalanced chromosomal translocation?
A) Balanced translocations involve loss of genetic material; unbalanced do not
B) Balanced translocations result in no net gain or loss of genetic material
C) Unbalanced translocations are always inherited from a parent
D) Balanced translocations always produce phenotypic abnormalities
Correct Answer: Balanced translocations result in no net gain or loss of genetic material
Expert Rationale: A balanced translocation involves an exchange of chromosomal segments with no net
gain or loss of genetic material, typically producing no phenotypic abnormalities. An unbalanced
translocation results in gain or loss of genetic material and does produce phenotypic abnormalities.
,---
3. In autosomal dominant inheritance, which of the following is true regarding transmission?
A) Both parents must be carriers to transmit the disorder
B) The phenotype is expressed in individuals with one copy of a gene mutation
C) The disorder is seen only in every other generation
D) Males are more frequently affected than females
Correct Answer: The phenotype is expressed in individuals with one copy of a gene mutation
Expert Rationale: In autosomal dominant inheritance, a single copy of the mutated gene is sufficient to
express the phenotype. Both males and females are equally likely to inherit and transmit the disorder,
and it is typically seen in multiple generations.
---
4. Which term describes the proportion of individuals with a specific gene mutation who actually exhibit
the clinical symptoms?
A) Expressivity
B) Penetrance
C) Anticipation
D) Mosaicism
Correct Answer: Penetrance
Expert Rationale: Penetrance is the proportion of individuals with a mutation who exhibit clinical
symptoms, often seen in autosomal dominant disorders. Expressivity refers to the degree of phenotypic
variation among affected individuals. Anticipation describes earlier onset and increased severity in
successive generations.
---
, 5. A researcher is studying a family in which a genetic disorder presents at an earlier age and with
greater severity in each successive generation. Which phenomenon best explains this observation?
A) Penetrance
B) Mosaicism
C) Anticipation
D) Consanguinity
Correct Answer: Anticipation
Expert Rationale: Anticipation is the tendency for certain genetic disorders to present at an earlier age
and with more severe manifestations in successive generations. This is often due to expansion of
trinucleotide repeats. Penetrance refers to the proportion of individuals who express a trait, while
mosaicism involves different cell lines.
---
6. What is the molecular analysis of the entire genome of a species called?
A) Genetics
B) Gene mapping
C) Genomics
D) Pharmacogenetics
Correct Answer: Genomics
Expert Rationale: Genomics is the molecular analysis of the entire genome of a species. Genetics focuses
on inherited traits at the individual level. Pharmacogenetics examines how genetic variation influences
drug response, while gene mapping identifies gene locations on chromosomes.
---
University | Q & A | 2026/2027 Edition (PDF)
1. Which of the following best describes the study of inherited traits and their variation at the individual
level?
A) Genomics
B) Genetics
C) Pharmacogenomics
D) Epigenetics
Correct Answer: Genetics
Expert Rationale: Genetics is the study of inherited traits and their variation at the individual level.
Genomics, by contrast, analyzes the entire genome of a species. Pharmacogenomics examines how
genetic variation affects drug response, and epigenetics involves heritable changes in gene expression
without DNA sequence alteration.
---
2. What is the primary distinction between a balanced and an unbalanced chromosomal translocation?
A) Balanced translocations involve loss of genetic material; unbalanced do not
B) Balanced translocations result in no net gain or loss of genetic material
C) Unbalanced translocations are always inherited from a parent
D) Balanced translocations always produce phenotypic abnormalities
Correct Answer: Balanced translocations result in no net gain or loss of genetic material
Expert Rationale: A balanced translocation involves an exchange of chromosomal segments with no net
gain or loss of genetic material, typically producing no phenotypic abnormalities. An unbalanced
translocation results in gain or loss of genetic material and does produce phenotypic abnormalities.
,---
3. In autosomal dominant inheritance, which of the following is true regarding transmission?
A) Both parents must be carriers to transmit the disorder
B) The phenotype is expressed in individuals with one copy of a gene mutation
C) The disorder is seen only in every other generation
D) Males are more frequently affected than females
Correct Answer: The phenotype is expressed in individuals with one copy of a gene mutation
Expert Rationale: In autosomal dominant inheritance, a single copy of the mutated gene is sufficient to
express the phenotype. Both males and females are equally likely to inherit and transmit the disorder,
and it is typically seen in multiple generations.
---
4. Which term describes the proportion of individuals with a specific gene mutation who actually exhibit
the clinical symptoms?
A) Expressivity
B) Penetrance
C) Anticipation
D) Mosaicism
Correct Answer: Penetrance
Expert Rationale: Penetrance is the proportion of individuals with a mutation who exhibit clinical
symptoms, often seen in autosomal dominant disorders. Expressivity refers to the degree of phenotypic
variation among affected individuals. Anticipation describes earlier onset and increased severity in
successive generations.
---
, 5. A researcher is studying a family in which a genetic disorder presents at an earlier age and with
greater severity in each successive generation. Which phenomenon best explains this observation?
A) Penetrance
B) Mosaicism
C) Anticipation
D) Consanguinity
Correct Answer: Anticipation
Expert Rationale: Anticipation is the tendency for certain genetic disorders to present at an earlier age
and with more severe manifestations in successive generations. This is often due to expansion of
trinucleotide repeats. Penetrance refers to the proportion of individuals who express a trait, while
mosaicism involves different cell lines.
---
6. What is the molecular analysis of the entire genome of a species called?
A) Genetics
B) Gene mapping
C) Genomics
D) Pharmacogenetics
Correct Answer: Genomics
Expert Rationale: Genomics is the molecular analysis of the entire genome of a species. Genetics focuses
on inherited traits at the individual level. Pharmacogenetics examines how genetic variation influences
drug response, while gene mapping identifies gene locations on chromosomes.
---
