Exam 13: Molecular Detection of Inherited Diseases

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A patient is tested to determine the number of CGG repeats in the FMR1 gene by Southern blot. The patient is found to have a band that runs above the normal control band. Which of the following is the correct interpretation of these results?

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Mutation in this gene product that catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate can lead to cardiovascular disease and complications in pregnancy.

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What defines a congenital disease?

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Almost all sex-linked disorders involve which of the following chromosomes?

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Mitochondrial mutations primarily affect which of the following tissues?

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