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MMSC491 Exam 1, Exam 2 & Exam 3 Study Guide |
Complete Exam Prep & Review Including Questions
,Answers Well Elaborated!!
1. A 45-year-old patient presents with fatigue, night sweats, and splenomegaly. Laboratory
findings show hemoglobin of 10.5 g/dL, white blood cell count of 85×10⁹/L with all stages of
neutrophil development present, and platelet count of 600×10⁹/L. The leukocyte alkaline
phosphatase stain is decreased. Which cytogenetic abnormality is most likely responsible for this
presentation?
a. JAK2V617F mutation
b. Deletion of chromosome 5q
c. Philadelphia chromosome t(9;22)
d. Trisomy 8
CORRECT ANSWER c. Philadelphia chromosome t(9;22)
2. A researcher is studying DNA repair mechanisms and observes that a cell has successfully
repaired a double-strand break using a template from a homologous chromosome. Which repair
pathway was most likely utilized?
a. Non-homologous end joining
b. Base excision repair
c. Homologous recombination
d. Nucleotide excision repair
CORRECT ANSWER c. Homologous recombination
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3. A 60-year-old man with a history of essential thrombocythemia is being treated with low-dose
aspirin and hydroxyurea. His platelet count is 650×10⁹/L and he complains of throbbing pain and
burning sensation in his hands and feet. What is the term for this specific symptom?
a. Pruritis
b. Erythromelalgia
c. Hepatomegaly
d. Ostealgia
CORRECT ANSWER b. Erythromelalgia
4. A genetic counselor is explaining to a couple that their child has a condition where
approximately 25% of affected individuals lack a paternal chromosome 15. The condition is
characterized by severe intellectual disability, ataxic gait, and inappropriate laughter. Which
disorder is being described?
a. Prader-Willi syndrome
b. Angelman syndrome
c. Fragile X syndrome
d. Huntington disease
CORRECT ANSWER b. Angelman syndrome
5. A 55-year-old patient with polycythemia vera has a hemoglobin of 19 g/dL and hematocrit of
58%. The physician orders therapeutic phlebotomy to reduce the hematocrit to what target level?
a. Below 35%
b. Below 55%
c. Below 45%
d. Below 50%
CORRECT ANSWER c. Below 45%
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6. During DNA replication, an enzyme synthesizes RNA primers that are later removed and
replaced with DNA. Which enzyme is responsible for laying down these RNA primers?
a. Helicase
b. DNA polymerase
c. Primase
d. Ligase
CORRECT ANSWER c. Primase
7. A 70-year-old patient with myelodysplastic syndrome has a bone marrow biopsy showing 12%
blasts and the presence of Auer rods. According to WHO classification, which subtype does this
patient have?
a. MDS-EB-1
b. MDS-EB-2
c. MDS-MLD
d. MDS-RS-MLD
CORRECT ANSWER b. MDS-EB-2
8. A scientist is studying a long non-coding RNA that is produced by a gene in the HOXC cluster
on chromosome 12 but regulates genes within the HOXD cluster on chromosome 2. Which
lncRNA is this?
a. XIST
b. HOTAIR
c. MALAT1
d. TERC
CORRECT ANSWER b. HOTAIR
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9. A patient with chronic myeloid leukemia has been on imatinib mesylate (Gleevec) for 4 years.
Recently, the patient's white blood cell count has become unresponsive to therapy and basophils
have increased. The bone marrow shows 12% blasts and additional clonal chromosomal
abnormalities. Which phase of CML is this patient experiencing?
a. Chronic phase
b. Accelerated phase
c. Blastic phase
d. Remission phase
CORRECT ANSWER b. Accelerated phase
10. Which structure protects chromosome ends from degradation and prevents fusion with other
chromosomes?
a. Centromere
b. Telomere
c. Replication origin
d. Heterochromatin
CORRECT ANSWER b. Telomere
11. A bone marrow aspiration from a patient with primary myelofibrosis results in a "dry tap"
due to extensive fibrosis. Which growth factor is primarily responsible for the increased collagen
and reticulin fiber synthesis in this condition?
a. Erythropoietin
b. Thrombopoietin
c. Platelet-derived growth factor
d. Granulocyte colony-stimulating factor
CORRECT ANSWER c. Platelet-derived growth factor
MMSC491 Exam 1, Exam 2 & Exam 3 Study Guide |
Complete Exam Prep & Review Including Questions
,Answers Well Elaborated!!
1. A 45-year-old patient presents with fatigue, night sweats, and splenomegaly. Laboratory
findings show hemoglobin of 10.5 g/dL, white blood cell count of 85×10⁹/L with all stages of
neutrophil development present, and platelet count of 600×10⁹/L. The leukocyte alkaline
phosphatase stain is decreased. Which cytogenetic abnormality is most likely responsible for this
presentation?
a. JAK2V617F mutation
b. Deletion of chromosome 5q
c. Philadelphia chromosome t(9;22)
d. Trisomy 8
CORRECT ANSWER c. Philadelphia chromosome t(9;22)
2. A researcher is studying DNA repair mechanisms and observes that a cell has successfully
repaired a double-strand break using a template from a homologous chromosome. Which repair
pathway was most likely utilized?
a. Non-homologous end joining
b. Base excision repair
c. Homologous recombination
d. Nucleotide excision repair
CORRECT ANSWER c. Homologous recombination
, Page |2
3. A 60-year-old man with a history of essential thrombocythemia is being treated with low-dose
aspirin and hydroxyurea. His platelet count is 650×10⁹/L and he complains of throbbing pain and
burning sensation in his hands and feet. What is the term for this specific symptom?
a. Pruritis
b. Erythromelalgia
c. Hepatomegaly
d. Ostealgia
CORRECT ANSWER b. Erythromelalgia
4. A genetic counselor is explaining to a couple that their child has a condition where
approximately 25% of affected individuals lack a paternal chromosome 15. The condition is
characterized by severe intellectual disability, ataxic gait, and inappropriate laughter. Which
disorder is being described?
a. Prader-Willi syndrome
b. Angelman syndrome
c. Fragile X syndrome
d. Huntington disease
CORRECT ANSWER b. Angelman syndrome
5. A 55-year-old patient with polycythemia vera has a hemoglobin of 19 g/dL and hematocrit of
58%. The physician orders therapeutic phlebotomy to reduce the hematocrit to what target level?
a. Below 35%
b. Below 55%
c. Below 45%
d. Below 50%
CORRECT ANSWER c. Below 45%
, Page |3
6. During DNA replication, an enzyme synthesizes RNA primers that are later removed and
replaced with DNA. Which enzyme is responsible for laying down these RNA primers?
a. Helicase
b. DNA polymerase
c. Primase
d. Ligase
CORRECT ANSWER c. Primase
7. A 70-year-old patient with myelodysplastic syndrome has a bone marrow biopsy showing 12%
blasts and the presence of Auer rods. According to WHO classification, which subtype does this
patient have?
a. MDS-EB-1
b. MDS-EB-2
c. MDS-MLD
d. MDS-RS-MLD
CORRECT ANSWER b. MDS-EB-2
8. A scientist is studying a long non-coding RNA that is produced by a gene in the HOXC cluster
on chromosome 12 but regulates genes within the HOXD cluster on chromosome 2. Which
lncRNA is this?
a. XIST
b. HOTAIR
c. MALAT1
d. TERC
CORRECT ANSWER b. HOTAIR
, Page |4
9. A patient with chronic myeloid leukemia has been on imatinib mesylate (Gleevec) for 4 years.
Recently, the patient's white blood cell count has become unresponsive to therapy and basophils
have increased. The bone marrow shows 12% blasts and additional clonal chromosomal
abnormalities. Which phase of CML is this patient experiencing?
a. Chronic phase
b. Accelerated phase
c. Blastic phase
d. Remission phase
CORRECT ANSWER b. Accelerated phase
10. Which structure protects chromosome ends from degradation and prevents fusion with other
chromosomes?
a. Centromere
b. Telomere
c. Replication origin
d. Heterochromatin
CORRECT ANSWER b. Telomere
11. A bone marrow aspiration from a patient with primary myelofibrosis results in a "dry tap"
due to extensive fibrosis. Which growth factor is primarily responsible for the increased collagen
and reticulin fiber synthesis in this condition?
a. Erythropoietin
b. Thrombopoietin
c. Platelet-derived growth factor
d. Granulocyte colony-stimulating factor
CORRECT ANSWER c. Platelet-derived growth factor
