한국인 집단에서 Cytochrome P450 2E1의 유전적 다형성

Genetic Polymorphism of Cytochrome P450 2E1 in Korean Population

  • 정혜광 (조선대학교 자연과학대학 환경학과) ;
  • 구희경 (조선대학교 자연과학대학 환경학과) ;
  • 이상섭 (한국과학기술원 생물과학과) ;
  • 양규환 (한국과학기술원 생물과학과) ;
  • 정태천 (한국화학연구소 안전성센터) ;
  • 변부형 (경산대학교 보건대학원)
  • 발행 : 1996.09.01

초록

In this study, we have quantified genotype frequency of the cytochrome P450 (P450) 2E1 which codes for the P450 enzyme primarily responsible for the metabolic activation of carcinogenic nitrosamines and low molecular organic solvents, in Korean population by using PCR and RFLP at two sites previously associated with some cancers; a PstI and RsaI RFLP in the transcriptional regulatory region of the human P450 2E1 gene. The genotype frequencies of homozygous wild type (PstI site-absent) and heterozygous mutant type (PstI site-present) in PstI RFLP were 0.70 and 030, respectively. The homozygous mutant type in Pstl RFLP was not observed in Korean population. The genotype frequencies of homozygous wild type (RsaI site-present), heterozygous mutant type (RsaI site-absent), and homozygous mutant type in RsaI RFLP were 0.71, 0.26, and 0.03, respectively.

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