NR 507 Final Exam (2026) | Chamberlain
Advanced Pathophysiology Actual Questions
and Answers (PDF)|Latest Updated!!
NR 507 Final Exam – Advanced Pathophysiology (2026)
1–30: Cellular Biology, Genetics, & Environment
1. A patient has a mutation in the TP53 gene. Which cellular process is most directly
impaired?
A. DNA replication
B. Apoptosis
C. ATP synthesis
D. Phagocytosis
Answer: B. TP53 (p53) is a tumor suppressor that triggers apoptosis or cell cycle arrest in
response to DNA damage.
2. Which phase of the cell cycle is most susceptible to damage by chemotherapy that targets
DNA synthesis?
A. G1
B. S
C. G2
D. M
Answer: B. S phase is when DNA replication occurs.
3. A patient with cystic fibrosis has a defect in which type of transport?
A. Sodium channel
,B. Chloride channel (CFTR)
C. Calcium ATPase
D. Potassium leak channel
Answer: B. CFTR chloride channel dysfunction leads to thick secretions.
4. Which genetic disorder is associated with a trinucleotide repeat expansion on the HTT
gene?
A. Fragile X syndrome
B. Huntington disease
C. Myotonic dystrophy
D. Spinocerebellar ataxia
Answer: B. Huntington disease = CAG repeat in HTT.
5. A newborn has dysmorphic features, heart defect, and palmar crease. Karyotype shows
47,XX,+21. This is an example of:
A. Monosomy
B. Trisomy
C. Deletion
D. Translocation
Answer: B. Trisomy 21 (Down syndrome).
6. Which type of mutation results in a premature stop codon?
A. Missense
B. Nonsense
C. Silent
D. Frameshift
Answer: B. Nonsense = stop codon.
7. A patient with neurofibromatosis type 1 inherited one normal and one mutated NF1
allele. Loss of the normal allele in Schwann cells leads to tumor formation. This is an
example of:
A. Dominant negative
B. Loss of heterozygosity
,C. Haploinsufficiency
D. Genomic imprinting
Answer: B. Loss of heterozygosity (second hit) in a tumor suppressor gene.
8. Which cellular adaptation is reversible and involves an increase in cell size?
A. Hyperplasia
B. Hypertrophy
C. Metaplasia
D. Dysplasia
Answer: B. Hypertrophy (e.g., cardiac muscle due to hypertension).
9. Metaplasia is best described as:
A. Increased cell number
B. Replacement of one differentiated cell type with another
C. Disordered cell growth
D. Decreased cell size
Answer: B. Metaplasia (e.g., Barrett esophagus).
10. A 60-year-old smoker develops a lung tumor. Whole-exome sequencing reveals a
mutation in KRAS that leads to constitutive activation. This is a:
A. Tumor suppressor gene
B. Proto-oncogene
C. DNA repair gene
D. Apoptosis gene
Answer: B. KRAS is a proto-oncogene; mutation turns it into an oncogene.
11. Which of the following is characteristic of malignant tumors?
A. Well-defined capsule
B. Slow growth
C. Invasion and metastasis
D. Resembles normal tissue
Answer: C. Invasion and metastasis are key features of malignancy.
, 12. Which inheritance pattern requires both parents to be carriers and affects males and
females equally?
A. X-linked recessive
B. Autosomal dominant
C. Autosomal recessive
D. Mitochondrial
Answer: C. Autosomal recessive (e.g., cystic fibrosis).
13. A man with hemophilia A (X-linked recessive) has a daughter with a woman without
hemophilia. The daughter:
A. Will have hemophilia
B. Is an obligate carrier
C. Cannot pass the gene to her sons
D. Has a 50% chance of being a carrier
Answer: B. She inherits father’s X with mutation → obligate carrier.
14. Which term describes the percentage of individuals with a specific genotype who
express the associated phenotype?
A. Expressivity
B. Penetrance
C. Pleiotropy
D. Heterogeneity
Answer: B. Penetrance.
15. A 3-year-old with recurrent infections, eczema, and thrombocytopenia is suspected to
have:
A. DiGeorge syndrome
B. Wiskott-Aldrich syndrome
C. Severe combined immunodeficiency
D. Chronic granulomatous disease
Answer: B. Wiskott-Aldrich (X-linked, triad: infections, eczema, low platelets).
Advanced Pathophysiology Actual Questions
and Answers (PDF)|Latest Updated!!
NR 507 Final Exam – Advanced Pathophysiology (2026)
1–30: Cellular Biology, Genetics, & Environment
1. A patient has a mutation in the TP53 gene. Which cellular process is most directly
impaired?
A. DNA replication
B. Apoptosis
C. ATP synthesis
D. Phagocytosis
Answer: B. TP53 (p53) is a tumor suppressor that triggers apoptosis or cell cycle arrest in
response to DNA damage.
2. Which phase of the cell cycle is most susceptible to damage by chemotherapy that targets
DNA synthesis?
A. G1
B. S
C. G2
D. M
Answer: B. S phase is when DNA replication occurs.
3. A patient with cystic fibrosis has a defect in which type of transport?
A. Sodium channel
,B. Chloride channel (CFTR)
C. Calcium ATPase
D. Potassium leak channel
Answer: B. CFTR chloride channel dysfunction leads to thick secretions.
4. Which genetic disorder is associated with a trinucleotide repeat expansion on the HTT
gene?
A. Fragile X syndrome
B. Huntington disease
C. Myotonic dystrophy
D. Spinocerebellar ataxia
Answer: B. Huntington disease = CAG repeat in HTT.
5. A newborn has dysmorphic features, heart defect, and palmar crease. Karyotype shows
47,XX,+21. This is an example of:
A. Monosomy
B. Trisomy
C. Deletion
D. Translocation
Answer: B. Trisomy 21 (Down syndrome).
6. Which type of mutation results in a premature stop codon?
A. Missense
B. Nonsense
C. Silent
D. Frameshift
Answer: B. Nonsense = stop codon.
7. A patient with neurofibromatosis type 1 inherited one normal and one mutated NF1
allele. Loss of the normal allele in Schwann cells leads to tumor formation. This is an
example of:
A. Dominant negative
B. Loss of heterozygosity
,C. Haploinsufficiency
D. Genomic imprinting
Answer: B. Loss of heterozygosity (second hit) in a tumor suppressor gene.
8. Which cellular adaptation is reversible and involves an increase in cell size?
A. Hyperplasia
B. Hypertrophy
C. Metaplasia
D. Dysplasia
Answer: B. Hypertrophy (e.g., cardiac muscle due to hypertension).
9. Metaplasia is best described as:
A. Increased cell number
B. Replacement of one differentiated cell type with another
C. Disordered cell growth
D. Decreased cell size
Answer: B. Metaplasia (e.g., Barrett esophagus).
10. A 60-year-old smoker develops a lung tumor. Whole-exome sequencing reveals a
mutation in KRAS that leads to constitutive activation. This is a:
A. Tumor suppressor gene
B. Proto-oncogene
C. DNA repair gene
D. Apoptosis gene
Answer: B. KRAS is a proto-oncogene; mutation turns it into an oncogene.
11. Which of the following is characteristic of malignant tumors?
A. Well-defined capsule
B. Slow growth
C. Invasion and metastasis
D. Resembles normal tissue
Answer: C. Invasion and metastasis are key features of malignancy.
, 12. Which inheritance pattern requires both parents to be carriers and affects males and
females equally?
A. X-linked recessive
B. Autosomal dominant
C. Autosomal recessive
D. Mitochondrial
Answer: C. Autosomal recessive (e.g., cystic fibrosis).
13. A man with hemophilia A (X-linked recessive) has a daughter with a woman without
hemophilia. The daughter:
A. Will have hemophilia
B. Is an obligate carrier
C. Cannot pass the gene to her sons
D. Has a 50% chance of being a carrier
Answer: B. She inherits father’s X with mutation → obligate carrier.
14. Which term describes the percentage of individuals with a specific genotype who
express the associated phenotype?
A. Expressivity
B. Penetrance
C. Pleiotropy
D. Heterogeneity
Answer: B. Penetrance.
15. A 3-year-old with recurrent infections, eczema, and thrombocytopenia is suspected to
have:
A. DiGeorge syndrome
B. Wiskott-Aldrich syndrome
C. Severe combined immunodeficiency
D. Chronic granulomatous disease
Answer: B. Wiskott-Aldrich (X-linked, triad: infections, eczema, low platelets).
