ATI RN
Pediatric Genetic Questions
Question 1 of 5
Allele:
Correct Answer: D
Rationale: An allele is a variant form of a gene at a specific locus on a chromosome.
Question 2 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 3 of 5
Duchenne muscular dystrophy is caused by a sex-linked recessive allele. Its victims are almost invariably boys, who usually die before the age of 20. Why is this disorder almost never seen in girls?
Correct Answer: D
Rationale: DMD is X-linked recessive. Females (XX) need two mutant alleles to be affected (rare), while males (XY) need only one, explaining the male predominance.
Question 4 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 5 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.