韩国人CYP450 1A1、CYP450 2E1和GSTM1、GSTT1、GSTP1基因座遗传多态性分析

目的 调查代谢相关的CYP4501A1、CYP4502E1和GSTM1、GSIT1、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Msp Ⅰ位点、CYP2E1基因5′端转录调节区Pst Ⅰ位点和GSTM1、GSTT1缺失与存在、GSTP1基因第5外显子BsmA Ⅰ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ml／ml型39．7％、ml／m2型49．7％、m2／m2型10．7％，基因频率为ml 0．645、m2 0．355。CYP2E1基因型频率为cl／cl型66．7％、cl／c2型30％、c2／c2型3．3％，基因频率为C1 0．818、C2 0．182。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Ile 0．792、Val 0．208。基因分布符合Hardy-Weirtberg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。

Genetic polymorphisms of the CYP450 1A1, CYP450 2E1, GSTM1, GSTT1, and GSTP1 in Korean

OBJECTIVE: This is an investigation on the polymorphism distribution of genes related with metabolism, such as cytochrome P450 1A1 (CYP1A1), CYP2E1, glutathione S-transferase M1 (GSTM1), GSTT1 and GSTP1 among the Korean public. METHODS: The techniques of polymerase chain reaction-restriction fragment length polymorphism were adopted. The authors analyzed the polymorphisms for 3-flanking region of CYP1A1 gene by the restriction endonuclease MspI, for 5-flanking region of the gene of CYP2E1 by PstI, for GSTP1 by BsmAI, and for the presence of GSTM1 and GSTT1 genotype to evaluate the gene types and calculate their frequencies in 300 healthy university students. RESULTS: The CYP1A1 genotype 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 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 0.182 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 Val/Val, and the allele frequencies are 0.792 for IIe and 0.208 for Val. All of the gene distribution matched the equilibrium law of Hardy-Weinberg. CONCLUSION: The genetic distribution of the genes in Korean is similar to the distribution of those in Chinese; more than half of the Korean in the study sample lack GSTM1 and GSTT1; the frequency for GSTM1 and GSTT1 null type of Korean is 3 times that of Indian.