NUR 631 Advanced Physiology and Pathophysiology Final
Exam Test Bank – 150 Practice Questions with Correct
Answers & Rationales | GCU
Cellular Biology & Genetics (Questions 1–20)
1. Which organelle contains the cell's genetic material and regulates protein
synthesis?
A) Mitochondria
B) Nucleus
C) Ribosome
D) Golgi apparatus
The nucleus houses DNA, which directs transcription and ultimately protein synthesis.
Mitochondria produce ATP, ribosomes synthesize proteins, and the Golgi modifies proteins.
2. Programmed cell death that does not trigger inflammation is called:
A) Necrosis
B) Apoptosis
C) Autophagy
D) Pyroptosis
Apoptosis is a regulated, energy-dependent process that eliminates damaged cells without
releasing inflammatory contents. Necrosis is unregulated and inflammatory.
3. After partial hepatectomy, remaining hepatocytes proliferate. This is an example
of:
A) Metaplasia
B) Compensatory hyperplasia
C) Dysplasia
D) Atrophy
Compensatory hyperplasia allows organs like the liver to regenerate and restore mass after
injury or resection. Metaplasia is a reversible cell type change.
4. Impaired cellular metabolism most directly leads to:
, A) Increased ATP production
B) Accumulation of waste products
C) Enhanced protein synthesis
D) Reduced intracellular calcium
When metabolism fails, substrates accumulate (e.g., lipids, glycogen). ATP falls, not rises,
and calcium often increases, causing injury.
5. Which genetic marker is associated with increased risk for neural tube defects?
A) BRCA1
B) Alpha-fetoprotein (AFP)
C) CA-125
D) CEA
*Maternal serum AFP is elevated in open neural tube defects. BRCA1 is linked to
breast/ovarian cancer, CA-125 to ovarian cancer, CEA to colorectal cancer.*
6. A woman with a BRCA1 mutation has a significantly increased lifetime risk of:
A) Lung cancer
B) Ovarian cancer
C) Colon cancer
D) Pancreatic cancer
BRCA1 is a tumor suppressor gene; mutations predispose to breast and ovarian cancers.
The other cancers are not directly linked to BRCA1.
7. Hemophilia A is inherited as:
A) Autosomal dominant
B) Autosomal recessive
C) X-linked recessive
D) Mitochondrial
The factor VIII gene is on the X chromosome; males (XY) express the disease, while
females (XX) are carriers. Autosomal disorders affect both sexes equally.
8. Cystic fibrosis is caused by a mutation in a gene that is:
A) Autosomal dominant
B) Autosomal recessive
C) X-linked dominant
, D) Y-linked
CFTR mutations require two defective alleles (one from each parent) to cause disease.
Autosomal dominant disorders need only one mutated allele.
9. A patient with Down syndrome (trisomy 21) has an extra chromosome resulting
from:
A) Translocation only
B) Nondisjunction
C) Deletion
D) Duplication
Most cases (~95%) are due to meiotic nondisjunction. Translocation accounts for ~3–4%,
deletion and duplication are different structural abnormalities.
10. Which statement about mitochondrial DNA (mtDNA) inheritance is correct?
A) Inherited equally from both parents
B) Inherited maternally
C) Subject to X-inactivation
D) Only expressed in males
Mitochondria in the zygote come almost entirely from the ovum. mtDNA disorders affect
both sexes but are transmitted by mothers.
11. A missense mutation results in:
A) Premature stop codon
B) Substitution of one amino acid
C) No change in amino acid
D) Frameshift of reading frame
Missense changes a single nucleotide, swapping one amino acid. Nonsense creates a stop
codon; silent has no change; frameshift alters reading frame.
12. Which of the following is an example of a tumor suppressor gene?
A) RAS
B) TP53
C) MYC
D) SRC
*TP53 (p53) arrests the cell cycle or induces apoptosis in response to DNA damage. RAS,
MYC, and SRC are proto-oncogenes.*
13. In Turner syndrome (45,XO), which physical finding is classically expected?
, A) Testicular atrophy
B) Webbed neck
C) Macro-orchidism
D) Large, low-set ears
Webbed neck, short stature, and cubitus valgus are characteristic. Macro-orchidism is seen
in Fragile X syndrome; testicular atrophy is not typical.
14. A patient with neurofibromatosis type 1 has an affected parent. This pattern is:
A) Autosomal dominant
B) Autosomal recessive
C) X-linked recessive
D) Multifactorial
NF1 is caused by mutations in the NF1 gene on 17q11.2 and follows autosomal dominant
inheritance with high penetrance but variable expressivity.
15. The term "aneuploidy" refers to:
A) Complete set of haploid chromosomes
B) Abnormal number of chromosomes
C) Broken chromosome fragment
D) Ring chromosome formation
Aneuploidy is any deviation from the normal diploid number (e.g., monosomy, trisomy).
Polyploidy is extra complete sets; structural abnormalities are different.
16. Which condition is associated with a trinucleotide repeat expansion?
A) Cystic fibrosis
B) Huntington disease
C) Sickle cell anemia
D) Hemophilia A
Huntington disease is caused by CAG repeats in the HTT gene. CF and sickle cell are point
mutations; hemophilia A is a deletion/inversion.
17. The cellular response to reversible injury includes:
A) Cellular swelling
B) Karyorrhexis
C) Karyolysis
Exam Test Bank – 150 Practice Questions with Correct
Answers & Rationales | GCU
Cellular Biology & Genetics (Questions 1–20)
1. Which organelle contains the cell's genetic material and regulates protein
synthesis?
A) Mitochondria
B) Nucleus
C) Ribosome
D) Golgi apparatus
The nucleus houses DNA, which directs transcription and ultimately protein synthesis.
Mitochondria produce ATP, ribosomes synthesize proteins, and the Golgi modifies proteins.
2. Programmed cell death that does not trigger inflammation is called:
A) Necrosis
B) Apoptosis
C) Autophagy
D) Pyroptosis
Apoptosis is a regulated, energy-dependent process that eliminates damaged cells without
releasing inflammatory contents. Necrosis is unregulated and inflammatory.
3. After partial hepatectomy, remaining hepatocytes proliferate. This is an example
of:
A) Metaplasia
B) Compensatory hyperplasia
C) Dysplasia
D) Atrophy
Compensatory hyperplasia allows organs like the liver to regenerate and restore mass after
injury or resection. Metaplasia is a reversible cell type change.
4. Impaired cellular metabolism most directly leads to:
, A) Increased ATP production
B) Accumulation of waste products
C) Enhanced protein synthesis
D) Reduced intracellular calcium
When metabolism fails, substrates accumulate (e.g., lipids, glycogen). ATP falls, not rises,
and calcium often increases, causing injury.
5. Which genetic marker is associated with increased risk for neural tube defects?
A) BRCA1
B) Alpha-fetoprotein (AFP)
C) CA-125
D) CEA
*Maternal serum AFP is elevated in open neural tube defects. BRCA1 is linked to
breast/ovarian cancer, CA-125 to ovarian cancer, CEA to colorectal cancer.*
6. A woman with a BRCA1 mutation has a significantly increased lifetime risk of:
A) Lung cancer
B) Ovarian cancer
C) Colon cancer
D) Pancreatic cancer
BRCA1 is a tumor suppressor gene; mutations predispose to breast and ovarian cancers.
The other cancers are not directly linked to BRCA1.
7. Hemophilia A is inherited as:
A) Autosomal dominant
B) Autosomal recessive
C) X-linked recessive
D) Mitochondrial
The factor VIII gene is on the X chromosome; males (XY) express the disease, while
females (XX) are carriers. Autosomal disorders affect both sexes equally.
8. Cystic fibrosis is caused by a mutation in a gene that is:
A) Autosomal dominant
B) Autosomal recessive
C) X-linked dominant
, D) Y-linked
CFTR mutations require two defective alleles (one from each parent) to cause disease.
Autosomal dominant disorders need only one mutated allele.
9. A patient with Down syndrome (trisomy 21) has an extra chromosome resulting
from:
A) Translocation only
B) Nondisjunction
C) Deletion
D) Duplication
Most cases (~95%) are due to meiotic nondisjunction. Translocation accounts for ~3–4%,
deletion and duplication are different structural abnormalities.
10. Which statement about mitochondrial DNA (mtDNA) inheritance is correct?
A) Inherited equally from both parents
B) Inherited maternally
C) Subject to X-inactivation
D) Only expressed in males
Mitochondria in the zygote come almost entirely from the ovum. mtDNA disorders affect
both sexes but are transmitted by mothers.
11. A missense mutation results in:
A) Premature stop codon
B) Substitution of one amino acid
C) No change in amino acid
D) Frameshift of reading frame
Missense changes a single nucleotide, swapping one amino acid. Nonsense creates a stop
codon; silent has no change; frameshift alters reading frame.
12. Which of the following is an example of a tumor suppressor gene?
A) RAS
B) TP53
C) MYC
D) SRC
*TP53 (p53) arrests the cell cycle or induces apoptosis in response to DNA damage. RAS,
MYC, and SRC are proto-oncogenes.*
13. In Turner syndrome (45,XO), which physical finding is classically expected?
, A) Testicular atrophy
B) Webbed neck
C) Macro-orchidism
D) Large, low-set ears
Webbed neck, short stature, and cubitus valgus are characteristic. Macro-orchidism is seen
in Fragile X syndrome; testicular atrophy is not typical.
14. A patient with neurofibromatosis type 1 has an affected parent. This pattern is:
A) Autosomal dominant
B) Autosomal recessive
C) X-linked recessive
D) Multifactorial
NF1 is caused by mutations in the NF1 gene on 17q11.2 and follows autosomal dominant
inheritance with high penetrance but variable expressivity.
15. The term "aneuploidy" refers to:
A) Complete set of haploid chromosomes
B) Abnormal number of chromosomes
C) Broken chromosome fragment
D) Ring chromosome formation
Aneuploidy is any deviation from the normal diploid number (e.g., monosomy, trisomy).
Polyploidy is extra complete sets; structural abnormalities are different.
16. Which condition is associated with a trinucleotide repeat expansion?
A) Cystic fibrosis
B) Huntington disease
C) Sickle cell anemia
D) Hemophilia A
Huntington disease is caused by CAG repeats in the HTT gene. CF and sickle cell are point
mutations; hemophilia A is a deletion/inversion.
17. The cellular response to reversible injury includes:
A) Cellular swelling
B) Karyorrhexis
C) Karyolysis