Why is sickle cell disease so called?

Questions 45

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Pediatric Genetic Questions

Question 1 of 5

Why is sickle cell disease so called?

Correct Answer: C

Rationale: Sickle cell disease is named for the sickle-shaped red blood cells caused by abnormal hemoglobin under low oxygen (not strictly pH), leading to their characteristic shape.

Question 2 of 5

A particular allele can have different effects if it was inherited from a male rather than a female. This phenomenon is known as:

Correct Answer: B

Rationale: Genomic imprinting causes differential expression of alleles based on parental origin (e.g., Prader-Willi vs. Angelman syndromes).

Question 3 of 5

In normal differentiated somatic cells, telomerase:

Correct Answer: B

Rationale: Telomerase is inactive in most somatic cells, leading to telomere shortening with each division, unlike cancer cells where it’s often active.

Question 4 of 5

Chronic myeloid leukemia is caused by a translocation that creates:

Correct Answer: D

Rationale: The BCR-ABL fusion protein from t(9;22) is a tyrosine kinase that deregulates myeloid cell proliferation.

Question 5 of 5

The main gatekeeper for FAP colon cancer is most likely:

Correct Answer: A

Rationale: APC (adenomatous polyposis coli) is the primary gatekeeper gene in familial adenomatous polyposis, initiating polyp formation when mutated.

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