rationales—that cover the major themes found in Genetics and Genomics in
Nursing and Health Care (First Edition by Theresa A. Beery and M. Linda
Workman). These questions are designed to help you review core concepts from
all chapters of the text. You can use these both as a self‐assessment tool and as
a springboard for deeper discussion or study.
Chapter 1: Basic Genetic Concepts
Question 1.1
Which of the following best distinguishes between genotype and phenotype?
A. The genotype refers to the observable traits, while the phenotype is the inherited genetic code.
B. The genotype is the inherited set of genes, whereas the phenotype is the expressed characteristics
influenced by both genetics and the environment.
C. The genotype is influenced by environmental factors, whereas the phenotype is strictly determined
by the genes.
D. The genotype and phenotype are synonymous terms.
Correct Answer: B
Rationale:
Genotype is the underlying genetic makeup of an individual, while phenotype represents the observable
traits and characteristics, which result from the interplay between genes and environmental factors.
Understanding this distinction is fundamental to genetics and helps nurses appreciate how both
inherited factors and external influences shape health outcomes.
Question 1.2
True or False:
A mutation always leads to a disease state in an individual.
A. True
B. False
Correct Answer: B (False)
Rationale:
Not all mutations are harmful. Many genetic mutations are benign or even beneficial. Some may have
no noticeable effect on an individual’s health, while others can contribute to genetic diversity.
Recognizing this helps in clinical practice when evaluating genetic test results and counseling patients.
Chapter 2: Molecular Genetics and Genomics
, Question 2.1
Which of the following processes is most directly responsible for regulating gene expression in
eukaryotic cells?
A. DNA replication
B. Transcriptional regulation
C. Chromosomal crossover
D. Cytokinesis
Correct Answer: B
Rationale:
Transcriptional regulation involves mechanisms that increase or decrease the transcription of specific
genes. This process is critical for ensuring that genes are expressed at the right time, in the right cell
type, and in the correct amount, which is essential for normal development and function.
Question 2.2
The central dogma of molecular biology states that:
A. RNA is reverse transcribed into DNA which is then translated into protein.
B. DNA is transcribed into RNA, and RNA is translated into protein.
C. Protein is translated into RNA, and RNA is reverse transcribed into DNA.
D. DNA and RNA are interchangeable in their functions.
Correct Answer: B
Rationale:
The central dogma describes the flow of genetic information from DNA to RNA to protein. This principle
is the foundation for understanding how genetic information is used to produce the proteins that carry
out most cellular functions.
Chapter 3: Genetic Testing, Counseling, and Ethical Considerations
Question 3.1
Which of the following is an example of a predictive genetic test?
A. Testing for BRCA1 and BRCA2 mutations in individuals with a family history of breast cancer.
B. Screening for acute infections using PCR.
C. Blood typing for transfusion compatibility.
D. Measuring cholesterol levels in the blood.
Correct Answer: A
Rationale:
Predictive genetic tests are used to assess the risk of developing a genetic disorder before symptoms
appear. Testing for BRCA mutations helps predict an individual’s risk for breast and ovarian cancers,
making it a classic example of a predictive test.