韩国人CYP4501A1、CYP4502E1和GSTM1、GSTT1、GSTP1基因座遗传多态性分析

Genetic polymorphisms of the CYP450 1A1, CYP450 2E1, GSTM1, G STT1, and GSTP1 in Korean

目的调查代谢相关的CYP4501A1、CYP4502E1和GSTM1、GSTT1、GSTP1基因座在韩国人群中的遗传多态性分布状况。方法采用多重聚合酶链式反应、聚合酶链式反应限制性片段长度多态性技术,分析300名韩国健康大学生的CYP1A1基因3′端限制性内切酶MspⅠ位点、CYP2E1基因5′端转录调节区PstⅠ位点和GSTM1、GSTT1缺失与存在、GSTP1基因第5外显子BsmAⅠ位点的基因型,计算基因型和基因频率。结果CYP1A1基因型频率为m1/m1型39.7%、m1/m2型49.7%、m2/m2型10.7%,基因频率为m10.645、m20.355。CYP2E1基因型频率为c1/c1型66.7%、c1/c2型30%、c2/c2型3.3%,基因频率为C10.818、C20.182。GSTM1基因缺失型频率为53.3%。GSTT1基因缺失型频率为54.7%。GSTP1基因型频率为Ile/Ile型62%、Ile/Val型34.3%、Val/Val型3.7%,基因频率为Ile0.792、Val0.208。基因分布符合HardyWeinberg平衡定律。结论韩国人CYP1A1、CYP2E1、GSTM1、GSTT1基因分布与我国人群较为相近,半数以上人缺乏GSTM1和GSTT1基因,纯合缺失型频率超过印度人的3倍。

Objective This is an investigation on the polym or phism distribution of genes related with metabolism, such as cytochrome P450 1A1 (CYP1A1), CYP2E1, glutathione S-transferase M1 (GSTM1), GST T1 and GSTP1 among the Korean public. Methods The techniques of polymerase chain reaction-restriction fragment length polymor phism were adopted. The authors analyzed the polymorphisms for 3-fla nking region of CYP1A1 gene by the restriction endonuclease MspⅠ, f or 5-flanking region of the gene of CYP2E1 by PstⅠ, for GS TP 1 by BsmAⅠ, and for the presence of GSTM1 and GSTT1[QX) ] genotype to evaluate the gene types and calculate their frequencies in 300 hea lthy university students. Results The CYP1A1 genoty pe frequencies for types of m1/m1, m1/m2, and m2/m2 are 39.7%, 497%, and 10.7% respectively, with the allele frequencies 0645 for m1 and 0.355 for m2. The [Q X( Y9]CYP2E1 genotype frequencies are 66.7% for type of c1/c1, 30% for type of c1/c2, 3.3% for type of c2/c2 with the allele frequencies 0.818 for C1 and 0.18 2 for C2. The null type frequency is 53.3% for gene GSTM1 and 54.7% for gene GSTT1. The genotype frequencies of GSTP1 is 62% for the type of Ile/Ile, 34.3% for the type of Ile/Val, 3.7% for the type of Va l/Val, and the allele frequencies are 0.792 for IIe and 0.208 for Val. All of th e gene distribution matched the equilibrium law of Hardy-Weinberg. Conc lusion The genetic distribution of the genes in Korean is similar to th e distribution of those in Chinese; more than half of the Korean in the study sa mple lack GSTM1 and GSTT1; the frequency for GS TM1 and GSTT1 null type of Korean is 3 times that of Indian.