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南印度人群中GSTM1、GSTT1和GSTP1基因的遗传变异

Genetic variation of GSTM1, GSTT1 and GSTP1 genes in a South Indian population.

作者信息

V Vettriselvi, K Vijayalakshmi, Paul Solomon Fd, P Venkatachalam

机构信息

Department of Human Genetics, Sri Ramachandra Medical College and Research Institute 600116 Tamil Nadu, India.

出版信息

Asian Pac J Cancer Prev. 2006 Apr-Jun;7(2):325-8.

Abstract

The glutathione S transferase (GST) family of enzymes play a vital role in the phase II biotransformation of environmental carcinogens, pollutants, drugs and other xenobiotics. GSTs are polymorphic and the polymorphisms in GST genes have been associated with cancer susceptibility and prognosis. Moreover, distinct ethnic differences have been observed in the type and frequency of GST gene polymorphisms. Hence, the present study was aimed to determine the frequencies of GSTM1, GSTT1 and GSTP1 polymorphisms in 255 healthy random volunteers from South India. The GSTM1 and GSTT1 genotypes were determined by PCR and GSTP1 by PCR-RFLP using peripheral blood DNA. The GSTM1 and GSTT1 null genotype frequencies were found to be 22.4% and 17.6% respectively. The GSTP1 allelic frequency was 0.78 for the Ile allele and 0.22 for the Val allele and the genotype frequency was 58.4% for Ile/Ile, 38.4% for Ile/Val, and 3.1% for Val/Val. Comparison of the frequencies of GST polymorphisms observed in the present study with other Indian and world populations revealed a distinctive nature of the South Indian population with respect to polymorphims at the GST gene loci. A better understanding of carcinogen metabolizing gene distribution should contribute to risk assessment of humans exposed to environmental carcinogens.

摘要

谷胱甘肽S-转移酶(GST)家族的酶在环境致癌物、污染物、药物及其他外源性物质的Ⅱ相生物转化过程中发挥着至关重要的作用。GST具有多态性,GST基因的多态性与癌症易感性及预后相关。此外,在GST基因多态性的类型和频率方面已观察到明显的种族差异。因此,本研究旨在确定来自印度南部的255名健康随机志愿者中GSTM1、GSTT1和GSTP1基因多态性的频率。使用外周血DNA通过聚合酶链反应(PCR)确定GSTM1和GSTT1基因型,通过PCR-限制性片段长度多态性(PCR-RFLP)确定GSTP1基因型。发现GSTM1和GSTT1基因缺失型频率分别为22.4%和17.6%。GSTP1等位基因频率中,异亮氨酸(Ile)等位基因为0.78,缬氨酸(Val)等位基因为0.22;基因型频率中,Ile/Ile为58.4%,Ile/Val为38.4%,Val/Val为3.1%。将本研究中观察到的GST多态性频率与其他印度人群及世界人群进行比较,结果显示印度南部人群在GST基因位点的多态性方面具有独特性。更好地了解致癌物代谢基因分布应有助于对暴露于环境致癌物的人群进行风险评估。

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