华人GSTM1,CYP 1A1 与 2E1 和APOE等等位基因的基因型

GST M1,CYP 1A1 AND 2E1,AND APOE ALLELE GENOTYPE IN CHINESE

目的探讨华人ＧＳＴＭ１、ＣＹＰ１Ａ１与２Ｅ１，和ＡｐｏＥ等等位基因的基因型，将有助于研究肿瘤病因，环境有害物和机体的相互作用，以及药物代谢。方法收集９５例上海和８９例哈尔滨正常女性的血液，提取ＤＮＡ，作ＣＹＰ１Ａ１、２Ｅ１，ＧＳＴＭ１和ＡｐｏＥ等基因型的分析。结果ＧＳＴＭ１缺失占５２％。ＣＹＰ１Ａ１第７外显子Ａ┐Ｇ突变型纯合子（ｍｍ）占３．９％，突变型等位基因占２２．３％。ＣＹＰ２Ｅ１５′端调控区Ｃ┐Ｔｍｍ占１．６％，突变型等位基因占２３．６％；第六内含子Ｔ┐Ａｍｍ占５．１％，突变型等位基因占２６．４％。ＡｐｏＥ的ε２占８．４％，ε４占９．０％。２５０例ＣＹＰ２Ｄ６中仅１例为２Ｄ６Ａ杂合子，其余都是野生型纯合子。结论这些基因型的频率和等位基因分布在上海和哈尔滨人群中无差异。

Objective:To investigate the allele genotypes of GST M1,CYP 1A1 and 2E1,and ApoE in Chinese.This may be helpful for the study of cancer etiology,interaction between environmental toxic agents and organism,and metabolism of drugs.Methods:95 and 89 blood samples were collected respectively from females in Shanghai and Harbin.DNA was extracted and CYP 1A1,2E1,GST M1 and ApoE genotypes were analyzed.In addition CYP 2D6 was measured for 250 females.Results:The GST M1 null occupied 52 %.The exon 7 A to G mutant homozygous (mm) of CYP 1A1 occupied 39 %,the mutant allele occupied 223 %.The 5′flanking region C to T mm of CYP 2E1 occupied 16 %,the mutant allele occupied 236 %;the T to A mm in intron 6 occupied 51 %,the mutant allele occupied 264 %.The ε2 and ε4 occupied 84 % and 90 % of ApoE respectively.Only one sample showed 2D6 A heterozygous in CYP 2D6,the remains are all wild homozygous.Conclusions:There was no difference in the frequency of genotype and the distribution of these analyzed alleles between Shanghai and Harbin population,and it was corresponded to the HardyWeinberg rule.