GENETICS AND GENOMICS IN NURSING AND HEALTH CARE
BEERY 2ND EDITION EXAM with Questions and Answers/Plus a
Rationale Updated 2026 A+/Instant Download PDF
EXAM COVERAGE - 1. Basic Concepts from Molecular
Genetics - 2. Gene Expression - 3. Genomic Health Problems
Across the Life Span - 4. Genomic Influences on Selected
Complex Health Problems - 5. Genomics and Disease
Management - 6. Global Genomic Issues
1. A nurse is evaluating a patient with a family history of hereditary nonpolyposis colorectal cancer
(Hynch syndrome). Genetic testing reveals a deleterious mutation in the MLH1 mismatch repair
gene. Which molecular mechanism best explains how this mutation increases cancer
susceptibility?
A. Upregulation of proto-oncogenes via hypermethylation of the promoter region
B. Accumulation of microsatellite instability due to failure to correct replication errors
C. Direct inhibition of apoptotic pathways mediated by p53 inactivation
D. Accelerated telomere shortening leading to premature cellular senescence
CORRECT ANSWER : B
Rationale: Mutations in mismatch repair genes such as MLH1 lead to failure in correcting
single-base mismatches and insertion-deletion loops during DNA replication, resulting in
microsatellite instability (MSI). Option A describes epigenetic silencing often seen in tumor
suppressor genes, but MLH1 itself is a DNA repair gene whose loss causes MSI. Option C
involves p53 pathways which are distinct from primary mismatch repair defects. Option D
relates to replicative senescence rather than targeted mismatch repair failure.
2. A clinical nurse specialist is counseling a patient regarding an autosomal dominant condition
with variable expressivity and reduced penetrance. Which concept best defines reduced
penetrance in this clinical context?
A. The presence of a mutation without any clinical signs or symptoms of the disease
B. The variation in severity of clinical symptoms among individuals carrying the same mutant
allele
, C. The proportion of individuals with a specific genotype who manifest any clinical expression
of the disorder
D. The preferential transmission of a mutant maternal allele over a paternal allele during
gametogenesis
CORRECT ANSWER : C
Rationale: Penetrance refers to the statistical probability or proportion of individuals possessing
a specific disease-associated genotype who actually exhibit any clinical signs of the phenotype.
Option A describes the state of an individual non-penetrant person, but penetrance is formally
defined as a population-level proportion as stated in C. Option B defines variable expressivity,
not penetrance. Option D refers to genomic imprinting or transmission distortion.
3. An advanced practice nurse reviews the laboratory results of a pregnant patient undergoing first-
trimester screening. The cell-free DNA (cfDNA) screening indicates an increased likelihood of
Trisomy 21. What is the primary source of this circulating cell-free DNA analyzed in maternal
plasma?
A. Fetal trophoblasts undergoing apoptosis that cross the placental barrier into the maternal
circulation
B. Maternal hepatocytes responding to altered hormonal fluctuations during early gestation
C. Direct transplacental migration of intact fetal nucleated red blood cells
D. Maternal lymphocytes activated by fetal antigens initiating a localized immune response
CORRECT ANSWER : A
Rationale: Cell-free DNA (cfDNA) found in maternal plasma during pregnancy largely
originates from placental trophoblast cells that undergo apoptosis and release cell-free fetal
DNA fragments into maternal blood. Option B is incorrect because maternal hepatocytes are not
the primary source of fetal-specific cfDNA panels. Option C refers to intact cells rather than
cell-free fragmented DNA. Option D incorrectly attributes the source to maternal immune cells
rather than placental trophoblastic debris.
4. A nurse researcher is analyzing epigenetic modifications associated with early-life stress. Which
chemical modification is primarily responsible for the stable silencing of gene transcription
without altering the underlying DNA sequence?
A. Histone acetylation at lysine residues within the core histone tails
B. DNA methylation of cytosine residues at CpG islands within promoter regions
C. Phosphorylation of serine residues on linker histone H1
, D. Ubiquitination of core histone octamers to promote chromatin relaxation
CORRECT ANSWER : B
Rationale: DNA methylation, specifically the addition of methyl groups to cytosine residues at
CpG islands in promoter regions, typically represses gene transcription and provides stable
epigenetic silencing. Option A (acetylation) generally promotes an open chromatin state and
transcriptional activation. Option C involves phosphorylation which plays diverse roles in cell
cycle and condensation. Option D involves ubiquitination which has variable roles depending on
the specific residue modified, but methylation is the primary hallmark for stable transcriptional
repression.
5. A genetics nurse is explaining the pathophysiology of mitochondrial myopathies to a patient.
Which inheritance pattern characterizes these disorders and dictates their transmission risk?
A. X-linked dominant inheritance with complete penetrance in female offspring
B. Autosomal recessive inheritance requiring biallelic mutations for phenotype expression
C. Maternal inheritance where affected mothers transmit the genome to all children, but affected
fathers do not transmit it
D. Multifactorial polygenic inheritance dependent on environmental trigger thresholds
CORRECT ANSWER : C
Rationale: Mitochondrial DNA is inherited exclusively from the mother through the oocyte
cytoplasm; therefore, affected mothers pass mitochondrial mutations to all of their offspring,
whereas affected fathers do not transmit mitochondrial traits. Option A, B, and D describe
nuclear genome inheritance patterns. Mitochondria bypass standard Mendelian nuclear
segregation due to cytoplasmic bottlenecking and maternal transmission.
6. During a genetic counseling session for a family with cystic fibrosis, the nurse discusses the role
of the cystic fibrosis transmembrane conductance regulator (CFTR) protein. What is the
fundamental cellular function of normal CFTR protein?
A. An intracellular enzyme responsible for glycolipid degradation in lysosomes
B. A transmembrane channel protein that regulates the transport of chloride ions across epithelial
cell membranes
C. A nuclear transcription factor that controls surfactant protein synthesis in type II pneumocytes
D. A structural cell adhesion molecule maintaining tight junction integrity in exocrine ducts
CORRECT ANSWER : B
, Rationale: The CFTR protein functions as an ATP-gated anion channel spanning the epithelial
cell membrane, primarily regulating the transport of chloride and thiocyanate ions, which
secondarily influences water movement. Option A describes lysosomal storage disease enzymes.
Option C refers to transcription factors. Option D describes structural junction proteins like
occludins or claudins rather than ion channels.
7. A nurse is evaluating a patient with Marfan syndrome, an autosomal dominant connective tissue
disorder caused by mutations in the FBN1 gene. The nurse understands that pleiotropy is a
hallmark of this condition. What does pleiotropy mean in this clinical context?
A. A single gene mutation causes multiple, seemingly unrelated phenotypic effects across
different organ systems
B. Multiple distinct gene loci mutations result in the exact same clinical syndrome
C. The severity of clinical manifestations increases progressively across successive generations
D. The gene mutation is expressed differently depending on whether it is inherited from the
mother or the father
CORRECT ANSWER : A
Rationale: Pleiotropy describes a genetic phenomenon where a single gene mutation impacts
multiple phenotypic traits or organ systems simultaneously, which explains why Marfan
syndrome affects the skeletal, ocular, and cardiovascular systems. Option B defines locus
heterogeneity. Option C defines anticipation. Option D describes genomic imprinting.
8. An oncology nurse is educating a patient regarding germline versus somatic mutations in the
context of hereditary breast and ovarian cancer (HBOC) syndrome involving BRCA1/BRCA2
genes. Which characteristic uniquely defines a germline mutation?
A. It occurs post-fertilization in somatic tissues and cannot be passed to biological offspring
B. It is present in the egg or sperm cell at conception and exists in every nucleated cell of the
body
C. It is exclusively acquired through environmental carcinogen exposure later in adulthood
D. It exhibits high tissue specificity, remaining restricted entirely to breast ductal epithelium
CORRECT ANSWER : B
Rationale: Germline mutations originate in the germ cells (sperm or egg) at the time of
conception, meaning the mutation is replicated in every cell of the developing organism and is
heritable. Option A describes somatic mutations. Option C and D also characterize localized
somatic alterations rather than systemic constitutional genetic variants.
BEERY 2ND EDITION EXAM with Questions and Answers/Plus a
Rationale Updated 2026 A+/Instant Download PDF
EXAM COVERAGE - 1. Basic Concepts from Molecular
Genetics - 2. Gene Expression - 3. Genomic Health Problems
Across the Life Span - 4. Genomic Influences on Selected
Complex Health Problems - 5. Genomics and Disease
Management - 6. Global Genomic Issues
1. A nurse is evaluating a patient with a family history of hereditary nonpolyposis colorectal cancer
(Hynch syndrome). Genetic testing reveals a deleterious mutation in the MLH1 mismatch repair
gene. Which molecular mechanism best explains how this mutation increases cancer
susceptibility?
A. Upregulation of proto-oncogenes via hypermethylation of the promoter region
B. Accumulation of microsatellite instability due to failure to correct replication errors
C. Direct inhibition of apoptotic pathways mediated by p53 inactivation
D. Accelerated telomere shortening leading to premature cellular senescence
CORRECT ANSWER : B
Rationale: Mutations in mismatch repair genes such as MLH1 lead to failure in correcting
single-base mismatches and insertion-deletion loops during DNA replication, resulting in
microsatellite instability (MSI). Option A describes epigenetic silencing often seen in tumor
suppressor genes, but MLH1 itself is a DNA repair gene whose loss causes MSI. Option C
involves p53 pathways which are distinct from primary mismatch repair defects. Option D
relates to replicative senescence rather than targeted mismatch repair failure.
2. A clinical nurse specialist is counseling a patient regarding an autosomal dominant condition
with variable expressivity and reduced penetrance. Which concept best defines reduced
penetrance in this clinical context?
A. The presence of a mutation without any clinical signs or symptoms of the disease
B. The variation in severity of clinical symptoms among individuals carrying the same mutant
allele
, C. The proportion of individuals with a specific genotype who manifest any clinical expression
of the disorder
D. The preferential transmission of a mutant maternal allele over a paternal allele during
gametogenesis
CORRECT ANSWER : C
Rationale: Penetrance refers to the statistical probability or proportion of individuals possessing
a specific disease-associated genotype who actually exhibit any clinical signs of the phenotype.
Option A describes the state of an individual non-penetrant person, but penetrance is formally
defined as a population-level proportion as stated in C. Option B defines variable expressivity,
not penetrance. Option D refers to genomic imprinting or transmission distortion.
3. An advanced practice nurse reviews the laboratory results of a pregnant patient undergoing first-
trimester screening. The cell-free DNA (cfDNA) screening indicates an increased likelihood of
Trisomy 21. What is the primary source of this circulating cell-free DNA analyzed in maternal
plasma?
A. Fetal trophoblasts undergoing apoptosis that cross the placental barrier into the maternal
circulation
B. Maternal hepatocytes responding to altered hormonal fluctuations during early gestation
C. Direct transplacental migration of intact fetal nucleated red blood cells
D. Maternal lymphocytes activated by fetal antigens initiating a localized immune response
CORRECT ANSWER : A
Rationale: Cell-free DNA (cfDNA) found in maternal plasma during pregnancy largely
originates from placental trophoblast cells that undergo apoptosis and release cell-free fetal
DNA fragments into maternal blood. Option B is incorrect because maternal hepatocytes are not
the primary source of fetal-specific cfDNA panels. Option C refers to intact cells rather than
cell-free fragmented DNA. Option D incorrectly attributes the source to maternal immune cells
rather than placental trophoblastic debris.
4. A nurse researcher is analyzing epigenetic modifications associated with early-life stress. Which
chemical modification is primarily responsible for the stable silencing of gene transcription
without altering the underlying DNA sequence?
A. Histone acetylation at lysine residues within the core histone tails
B. DNA methylation of cytosine residues at CpG islands within promoter regions
C. Phosphorylation of serine residues on linker histone H1
, D. Ubiquitination of core histone octamers to promote chromatin relaxation
CORRECT ANSWER : B
Rationale: DNA methylation, specifically the addition of methyl groups to cytosine residues at
CpG islands in promoter regions, typically represses gene transcription and provides stable
epigenetic silencing. Option A (acetylation) generally promotes an open chromatin state and
transcriptional activation. Option C involves phosphorylation which plays diverse roles in cell
cycle and condensation. Option D involves ubiquitination which has variable roles depending on
the specific residue modified, but methylation is the primary hallmark for stable transcriptional
repression.
5. A genetics nurse is explaining the pathophysiology of mitochondrial myopathies to a patient.
Which inheritance pattern characterizes these disorders and dictates their transmission risk?
A. X-linked dominant inheritance with complete penetrance in female offspring
B. Autosomal recessive inheritance requiring biallelic mutations for phenotype expression
C. Maternal inheritance where affected mothers transmit the genome to all children, but affected
fathers do not transmit it
D. Multifactorial polygenic inheritance dependent on environmental trigger thresholds
CORRECT ANSWER : C
Rationale: Mitochondrial DNA is inherited exclusively from the mother through the oocyte
cytoplasm; therefore, affected mothers pass mitochondrial mutations to all of their offspring,
whereas affected fathers do not transmit mitochondrial traits. Option A, B, and D describe
nuclear genome inheritance patterns. Mitochondria bypass standard Mendelian nuclear
segregation due to cytoplasmic bottlenecking and maternal transmission.
6. During a genetic counseling session for a family with cystic fibrosis, the nurse discusses the role
of the cystic fibrosis transmembrane conductance regulator (CFTR) protein. What is the
fundamental cellular function of normal CFTR protein?
A. An intracellular enzyme responsible for glycolipid degradation in lysosomes
B. A transmembrane channel protein that regulates the transport of chloride ions across epithelial
cell membranes
C. A nuclear transcription factor that controls surfactant protein synthesis in type II pneumocytes
D. A structural cell adhesion molecule maintaining tight junction integrity in exocrine ducts
CORRECT ANSWER : B
, Rationale: The CFTR protein functions as an ATP-gated anion channel spanning the epithelial
cell membrane, primarily regulating the transport of chloride and thiocyanate ions, which
secondarily influences water movement. Option A describes lysosomal storage disease enzymes.
Option C refers to transcription factors. Option D describes structural junction proteins like
occludins or claudins rather than ion channels.
7. A nurse is evaluating a patient with Marfan syndrome, an autosomal dominant connective tissue
disorder caused by mutations in the FBN1 gene. The nurse understands that pleiotropy is a
hallmark of this condition. What does pleiotropy mean in this clinical context?
A. A single gene mutation causes multiple, seemingly unrelated phenotypic effects across
different organ systems
B. Multiple distinct gene loci mutations result in the exact same clinical syndrome
C. The severity of clinical manifestations increases progressively across successive generations
D. The gene mutation is expressed differently depending on whether it is inherited from the
mother or the father
CORRECT ANSWER : A
Rationale: Pleiotropy describes a genetic phenomenon where a single gene mutation impacts
multiple phenotypic traits or organ systems simultaneously, which explains why Marfan
syndrome affects the skeletal, ocular, and cardiovascular systems. Option B defines locus
heterogeneity. Option C defines anticipation. Option D describes genomic imprinting.
8. An oncology nurse is educating a patient regarding germline versus somatic mutations in the
context of hereditary breast and ovarian cancer (HBOC) syndrome involving BRCA1/BRCA2
genes. Which characteristic uniquely defines a germline mutation?
A. It occurs post-fertilization in somatic tissues and cannot be passed to biological offspring
B. It is present in the egg or sperm cell at conception and exists in every nucleated cell of the
body
C. It is exclusively acquired through environmental carcinogen exposure later in adulthood
D. It exhibits high tissue specificity, remaining restricted entirely to breast ductal epithelium
CORRECT ANSWER : B
Rationale: Germline mutations originate in the germ cells (sperm or egg) at the time of
conception, meaning the mutation is replicated in every cell of the developing organism and is
heritable. Option A describes somatic mutations. Option C and D also characterize localized
somatic alterations rather than systemic constitutional genetic variants.
