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Fragile X syndrome is caused by expansion of a trinucleotide repeat in the 5' UTR of...

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?

Select one:

a. 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

b. Direct exome sequencing using a microarray

c. Whole-genome sequencing

d. PCR using two primers that are complementary to unique sequences on either side of the repeat region, followed by sequencing the PCR products

e. PCR using genomic DNA as template and two primers that are complementary to repeats on either side of the expansion, followed by gel electrophoresis

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Answer #1

A.PCR using genomic DNA as template and two primers one complementary to the repeat and other complementary to unique sequence followed by gel electrophoresis is the right option because fragile x syndrome is analysed by the number of CGG repeats in the chromosome and it is isolated by complementary unique and repeat sequences.

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