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The Most Common Mutant Allele of the PAH Gene, Which

Question 3

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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