Method for diagnosing long QT syndrome using primer for detecting genetic mutation and SNP

摘要

PURPOSE: A method for diagnosing long QT syndrome using a primer for detecting genetic mutation and SNP is provided, thereby specifically detecting the mutation of a gene HERG encoding the long QT syndrome type II which is a most common type in Korea. Therefore, the long QT syndrome can be rapidly and accurately diagnosed. CONSTITUTION: A Method for diagnosis of long QT syndrome using a primer for detecting genetic mutation and SNP comprises the steps of: separating DNA from human blood; preparing primers having the nucleotide sequences set forth in SEQ ID NO: 5 and SEQ ID NO: 6 for amplifying mutated HERG gene associated with the long QT syndrome from the separated DNA; PCR amplifying the gene HERG using the primers; sequencing amplified PCR products; and verifying the mutation from cytosine to thymine in exon 6 of the gene HERG, wherein conditions for the PCR amplification of HERG is as follows: pre-denaturation at 94 deg. C for 5 minutes, denaturation at 94 deg. C for 30 seconds, annealing at 60 deg. C for 20 seconds, and post-extension at 72 deg. C for 5 minutes.