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Old 01-30-2013
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Arrow Billy Step 1 Questions # 108

A 6-year-old boy presents to his pediatrician with skin lesions all over his body. For several years he has been very sensitive to sunlight. Neither the boy’s parents nor his siblings have the same skin lesions or sun sensitivity. Biopsies of several of the boy’s lesions reveal squamous cell carcinoma. Which mutation would one expect to see in this patient’s DNA?


(A) Methylation of the gene
(B) Missense mutation in the gene
(C) Nonsense mutation in the middle of the gene
(D) Point mutation within the enhancer region
(E) Point mutation within the operator region
(F) Point mutation within the promoter region
(G) Thymidine dimers
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thymidine dimers

xeroderma pigmentosum
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Originally Posted by billy View Post
A 6-year-old boy presents to his pediatrician with skin lesions all over his body. For several years he has been very sensitive to sunlight. Neither the boy’s parents nor his siblings have the same skin lesions or sun sensitivity. Biopsies of several of the boy’s lesions reveal squamous cell carcinoma. Which mutation would one expect to see in this patient’s DNA?


(A) Methylation of the gene
(B) Missense mutation in the gene
(C) Nonsense mutation in the middle of the gene
(D) Point mutation within the enhancer region
(E) Point mutation within the operator region
(F) Point mutation within the promoter region
(G) Thymidine dimers


G - Thymidine dimers. This child has xeroderma.
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A 6-year-old boy presents to his pediatrician with skin lesions all over his body. For several years he has been very sensitive to sunlight. Neither the boy’s parents nor his siblings have the same skin lesions or sun sensitivity. Biopsies of several of the boy’s lesions reveal squamous cell carcinoma. Which mutation would one expect to see in this patient’s DNA?


(A) Methylation of the gene (fragile syndrome)

Answer: (G) Thymidine dimers
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(G) Thymidine dimers
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(G) Thymidine dimers
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