The Most Common Mutant Allele of the PAH Gene, Which

question 2

Multiple Choice

The most common mutant allele of the PAH gene, which is responsible for the metabolic disorder PKU, has a SNP in the splice donor site of one intron.What is the simplest way to detect this allele?

• A)PCR using genomic DNA as template and two primers, one on either side of the SNP, followed by gel electrophoresis
• B)PCR using genomic DNA as template and two primers, one complementary to the region containing the SNP, followed by gel electrophoresis
• C)PCR using two primers, one on either side of the SNP, followed by sequencing the PCR products
• D)Direct exome sequencing using a microarray
• E)Whole-genome sequencing

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