上海正常人群中谷胱甘肽S-转移酶T1基因纯合缺损

HOMOZYGOUS DEFICIENCY OF HUMAN GLUTATHIONE S TRANSFERASE T1 GENE IN NORMAL POPULATION IN SHANGHAI

人类谷胱甘肽Ｓ－转移酶是一类重要的Ⅱ相反应代谢酶，它不仅与环境有害物质的减毒代谢有关，有时也与活化代谢过程有关，在胞浆谷胱甘肽Ｓ－转移酶中ＧＳＴＴ１表现的遗传多态性主要是由相关编码基因的缺失造成的。本文通过由人β－珠蛋白基因片段作内标控制对人血有核细胞ＤＮＡ进行ＧＳＴＴ１等位基因专一（Ａｌｅｌｅ－ｓｐｅｃｉｆｉｃ）ＰＣＲ扩增的方法，对２２６名上海市健康常住居民进行ＧＳＴＴ１基因型检测，结果表明５０３％（１１４／２２６）的检测对象为ＧＳＴＴ１基因纯合子缺损（ＧＳＴＴ１０／０基因型），上述结果显著高于世界各地高加索人种集团的报道值（１１－１７％）以及美国黑人人群的相应数值（２４％）。

Human glutathione S transferase(GSTs) is considered as an important group of phase Ⅱ reaction enzymes involved not only in the detoxification metabolism,in some cases, also in the bioactivation process of various types of environmental hazard chemicals. Among the glutathione S transferases known so far, GSTT1 displays genetic polymorphism due to gene deletion.GSTT1 was genotyped in 226 healthy adults in Shanghai (permanent residents) by an internal control allele specific PCR amplification of blood nucleated cell DNA. The homozygous deletion of GSTT1 gene (GSTT10/0 genotype) was identified in 50.3%(114/226) of the individuals tested. The deficiency frequency in normal population in Shanghai is higher than in normal Caucasian population(11-17%) and among African Americans (24%) significantly.