Leber’s hereditary optic atrophy is caused by a mutation in:

Questions 44

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Common Pediatric Genetic Disorders Questions

Question 1 of 5

Leber’s hereditary optic atrophy is caused by a mutation in:

Correct Answer: D

Rationale: Leber’s hereditary optic neuropathy (LHON) is caused by mitochondrial DNA mutations, inherited maternally.

Question 2 of 5

The childhood kidney cancer Wilms’ tumor is caused by:

Correct Answer: C

Rationale: Wilms’ tumor is associated with loss of the WT1 tumor suppressor gene on chromosome 11p13.

Question 3 of 5

Which statement is true?

Correct Answer: C

Rationale: Most cancers are sporadic, resulting from multiple somatic mutations over time.

Question 4 of 5

DNA microarrays and human genome data are being used to diagnose and manage cancer:

Correct Answer: A

Rationale: True. Microarrays and genomic data help identify cancer mutations and guide treatment.

Question 5 of 5

cells are commonly used today in research laboratories. They are from a cervical cancer patient who died in 1951:

Correct Answer: A

Rationale: HeLa cells, from Henrietta Lacks’ cervical cancer, are widely used in research.

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