Polymorphisms of KCNE1 Gene in Korean Population

  • Lee, Hyung-Ran (Department of Biology, Keimyung University) ;
  • Yoo, Min (Department of Biology, Keimyung University)
  • ;
  • 유민 (계명대학교 생물학과)
  • Published : 2008.06.30


Long QT Syndrome (LQT) is a congenital disease due to the failure of electrical system of the heart. We have analyzed KCNE1 gene which is known to be the cause of Type V LQT in Korean genome. Although SNPs of KCNE1 have been reported for Chinese and Malaysians no data are available for Korean people yet. PCR primers were prepared to investigate the sequences for normal and SNP at G30A, G112A, C162T. They were different only by 3' ends. Genomic DNAs were extracted from the people who were known to be normal clinically (35) or patients (20) with metabolic disease. As results, we were able to recognize several SNPs in these Korean samples. Some people were homozygous or heterozygous depending upon the type of SNP. This study should facilitate the research on the cause of Type VLQTs and to develop the further therapy at genetic level.