12 USMLE Pathology, Hematology and Genetics Quick Review Questions with Answers (Set 2)

These 12 quick USMLE review questions test high-yield facts that show up again and again on the exam: osteogenesis imperfecta, pleiotropy, innate immunity, urea cycle disorders, IgM and the J chain, salpingitis, dysplasia, von Gierke disease, HIV, Kaposi sarcoma, blotting and Goodpasture syndrome. Each question includes the correct answer.

Written by Dr. Ray Makar, MD, author of the Repeated USMLE Questions eBook series.

Prefer video? Watch daily USMLE case questions on MedFocus by Dr. Ray on YouTube.

How to use this page: read the question, pick your answer, then tap Show Answer and Explanation.

Questions

Question 1. Decreased production of which type of collagen may result in osteogenesis imperfecta?

A- Type I
B- Type II
C- Type III
D- Type IV

A- Type I- Osteogenesis imperfecta is caused by defective or decreased production of type I collagen, the main collagen found in bone.
The correct answer is A

 

Question 2. Which of the following correctly describes pleiotropy?

A- Increased severity of a disease in succeeding generations
B- Not all individuals with a mutant genotype show the same mutant phenotype
C- One gene contributes to multiple phenotypic effects
D- Phenotype is always the same among individuals having the same genotype

C- One gene contributes to multiple phenotypic effects- Pleiotropy occurs when a single gene influences multiple, seemingly unrelated phenotypic traits.
The correct answer is C

 

Question 3. Which of the following statements is true about innate immunity?

A- Highly specific and refined over time
B- Its main components are T cells, B cells and circulating antibodies
C- Its main secreted proteins are immunoglobulins
D- Resistance persists through generations

D- Resistance persists through generations- Innate immunity is the body’s first line of defense against pathogens and is characterized by nonspecific, immediate responses that are present from birth and inherited.
The correct answer is D

 

Question 4. Deficiency of the enzyme argininosuccinate synthetase in the urea cycle leads to the accumulation of which one of the following?

A- Arginine
B- Argininosuccinate
C- Citrulline
D- Ornithine

C- Citrulline- Argininosuccinate synthetase deficiency (a urea cycle disorder) causes citrulline accumulation, because citrulline cannot be converted to argininosuccinate.
The correct answer is C

 

Question 5. A decrease of J chain due to a genetic defect will cause a decrease of the which of the following?

A- Mature B lymphocytes
B- Mature T lymphocytes
C- Serum IgE
D- Serum IgM

D- Serum IgM: J chain decrease only affects IgM and IgA.
The correct answer is D

 

Question 6. A 35-year-old woman undergoes a hysterectomy. A section of one of her fallopian tubes is shown on this picture. What is your diagnosis?

A- Chronic salpingitis
B- Ectopic pregnancy
C- Endometriosis
D- Papillary carcinoma

A- Chronic salpingitis: Proliferation and plenty of lymphocytes. No glandular, fetal or cancerous tissues.
The correct answer is A

 

Question 7. Which of the following pathological terms describes the disordered, non-neoplastic cell growth?

A- Anaplasia
B- Dysplasia
C- Metaplasia
D- Neoplasia

B- Dysplasia- Anaplasia and neoplasia have neoplastic cells while metaplasia is non-neoplastic growth but organized not, disordered.
The correct answer is B

 

Question 8. Deficiency of which of the following enzymes is associated with von Gierke’s disease?

A- α-1,4-phosphorylase
B- Glucose-6-phosphatase
C- Hexosaminidase A
D- Phosphofructokinase-1

B- Glucose-6-phosphatase- Von Gierke’s disease (Glycogen storage disease type I) is caused by a deficiency of glucose-6-phosphatase, leading to severe fasting hypoglycemia and glycogen accumulation in the liver and kidneys.
The correct answer is B

 

Question 9. Which of the following differentiates HIV virus from RNA tumor viruses?

A- HIV contains 2 copies of RNA
B- HIV contains the pol gene
C- HIV has a cytolytic activity
D- HIV is a retrovirus

C- HIV virus has a cytolytic activity- HIV is cytolytic, meaning it directly destroys the host CD4⁺ T-cells it infects. This feature distinguishes HIV from RNA tumor viruses, which do not typically cause direct lysis of their host cells. The other statements are not unique to HIV:HIV contains two copies of RNA — so do other retroviruses.HIV contains the pol gene — all retroviruses do.HIV is a retrovirus — RNA tumor viruses are also retroviruses.
The correct answer is C

 

Question 10. Which one of the following neoplasms is the most likely related to HIV infection?

A- Burkitt’s lymphoma
B- Hodgkin’s lymphoma
C- Kaposi sarcoma
D- Myelocytic leukemia

C- Kaposi sarcoma- Kaposi sarcoma is strongly associated with HIV infection and is caused by HHV-8. It is a classic AIDS-defining illness. The other malignancies can occur in HIV, but are not as strongly linked as Kaposi sarcoma.
The correct answer is C

 

Question 11. Which one of the following blotting procedures is the best for studying mRNA levels?

A- Northern blot
B- Southern blot
C- Southwestern blot
D- Western blot

A- Northern blot- Remember it by SNoWDRoP South-DNA, North-RNA and West-Protein
The correct answer is A

 

Question 12. Which one of the following autoantibodies is associated with Goodpasture syndrome?

A- Anti-Ach receptor
B- Anti-basement membrane
C- Anti-centromere
D- Anti-histone

B- Anti-basement membrane- Goodpasture syndrome is characterized by anti–glomerular basement membrane (anti-GBM) antibodies, which attack the basement membranes of the kidneys and lungs.
The correct answer is B

 

High-yield points from this set

  • Osteogenesis imperfecta = type I collagen defect.
  • Pleiotropy = one gene, many effects.
  • Von Gierke disease = glucose-6-phosphatase deficiency.
  • Goodpasture syndrome = anti-glomerular basement membrane antibodies.

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