Environmental Mutagens and Carcinogens (한국환경성돌연변이발암원학회지)

Korean Environmental Mutagen Society (한국환경성돌연변이발암원학회)
권호 표지

Single Nucleotide Polymorphisms[SNPs] of DNA repair genes; hMLH1, hMSH2 and ATM in Healthy Korean

한국인에서의 DNA repair gene[hMLH1, hMSH2 및 ATM]의 Single Nucleotide Polymorphisms[SNPs]의 빈도

  • 정현숙 (서울대학교 보건대학원, 보건환경연구소) ;
  • 김태연 (서울대학교 보건대학원, 보건환경연구소) ;
  • 조윤희 (서울대학교 보건대학원, 보건환경연구소) ;
  • 김양지 (서울대학교 보건대학원, 보건환경연구소) ;
  • 정해원 (서울대학교 보건대학원, 보건환경연구소)
  • Published : 2003.03.01
Download PDF
⟨ Previous Next ⟩

Abstract

Single nucleotide polymorphisms (SNPs) are alterations in DNA base that occur most frequently throughout the human genome. The SNPs of DNA repair genes, hMLH1, hMSH2 and ATM, among 100 Korean people were analyzed using Dynamic Allele specific Hybridization (DASH) techniques. Mutation at the position of exon 38 (GA) and exon 10 (CG) of ATM gene, mutation at the position of exon 8 (AG), and exon 1 (AG) of hMLH1 gene and exon 14 (AG) of hMSH2 gene were investigated. No mutation at the selected position of ATM gene and hMSH1 gene was found. However, while there was no mutation at the position of exon of hMSH2 gene, mutation was found at the promotion region (CT) with the frequency of 24% CC, 36% CT and 62% TT genotyes. This results might be used as baseline data for research on SNP of Korean population.

Keywords