Fragile X Syndrome Is Caused by Expansion of a Trinucleotide

question 28

Multiple Choice

Fragile X syndrome is caused by expansion of a trinucleotide repeat in the 5′ UTR of the FMR-1 gene.What is the simplest way to detect this expansion?

• A)PCR using genomic DNA as template and two primers that are complementary to repeats on either side of the expansion, followed by gel electrophoresis
• B)PCR using genomic DNA as template and two primers, one complementary to the repeat region and the other complementary to unique sequence, followed by gel electrophoresis
• C)PCR using two primers that are complementary to unique sequences on either side of the repeat region, followed by sequencing the PCR products
• D)Direct exome sequencing using a microarray
• E)Whole-genome sequencing

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