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GSTM1 和 GSTT1 缺失等位基因在巴基斯坦人群中的频率分布及疾病发病风险。

Frequency distribution of GSTM1 and GSTT1 null allele in Pakistani population and risk of disease incidence.

机构信息

Institute of Biotechnology, Bahauddin Zakariya University, Multan 60800, Pakistan.

出版信息

Environ Toxicol Pharmacol. 2010 Jul;30(1):76-9. doi: 10.1016/j.etap.2010.04.002. Epub 2010 Apr 27.

DOI:10.1016/j.etap.2010.04.002
PMID:21787632
Abstract

Glutathione-S-transferases, GSTM1 and GSTT1 play a significant role in detoxification and bioactivation of a broad range of xenobiotic compounds known to be mutagenic and/or carcinogenic. Deletion polymorphisms of these glutathione transferases (GSTM1 and GSTT1) predispose individuals to environmental carcinogenic compounds. Although a number of studies have shown the relationship between GSTM1 and/or GSTT1 deletion polymorphism and different cancers, these findings cannot be extrapolated to other populations due to intra- and inter-ethnic variability. In order to assess the impact of differential ethnicity on the occurrence of different cancers in local population due to GSTM1, or GSTT1 deletion polymorphism, 111 healthy male and female individuals of different age groups from Southern Punjab, Pakistan were genotyped using a multiplex polymerase chain reaction. From the results it is obvious that null alleles of GSTM1 and GSTT1 genes were found in 45% and 23% individuals, respectively. In 5% of individuals' simultaneous deletion of both GSTM1 and GSTT1 genes were observed. Frequency of GSTM1 null allele is in concordance with those documented for Chinese, Caucasians, Mongolian, and Japanese populations. However, a significantly higher frequency for GSTT1 null was reported in Chinese and Japanese population as compared to Pakistani population. It is the first ever report on frequency of GSTM1 and GSTT1 null allele in Pakistani population which demonstrate the impact of ethnicity and provide basis for future epidemiological and clinical studies.

摘要

谷胱甘肽 S-转移酶(Glutathione-S-transferases,GSTM1 和 GSTT1)在解毒和生物激活广泛的外源化合物中发挥着重要作用,这些化合物已知具有致突变性和/或致癌性。这些谷胱甘肽转移酶(GSTM1 和 GSTT1)的缺失多态性使个体易受环境致癌化合物的影响。尽管许多研究表明 GSTM1 和/或 GSTT1 缺失多态性与不同癌症之间存在关系,但由于种族内和种族间的变异性,这些发现不能外推到其他人群。为了评估由于 GSTM1 或 GSTT1 缺失多态性导致不同种族对当地人群中不同癌症发生的影响,对来自巴基斯坦旁遮普省南部的不同年龄组的 111 名健康男性和女性个体进行了多重聚合酶链反应(polymerase chain reaction)基因分型。结果表明,GSTM1 和 GSTT1 基因的无效等位基因分别在 45%和 23%的个体中发现。在 5%的个体中同时观察到 GSTM1 和 GSTT1 基因的缺失。GSTM1 无效等位基因的频率与中国、高加索人、蒙古人和日本人的记录相符。然而,与巴基斯坦人群相比,中国和日本人群 GSTT1 无效等位基因的频率明显更高。这是首次在巴基斯坦人群中报道 GSTM1 和 GSTT1 无效等位基因的频率,这表明了种族的影响,并为未来的流行病学和临床研究提供了基础。

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