中国当代儿科杂志2003，Vol.5Issue(4)：289-293,5.
上海地区汉族人谷胱甘肽S转移酶基因多态性分析
Glutathione S-Transferase Polymorphism in Han Nationality in Shanghai
袁晓军 1顾龙君 1赵金彩 1陈文高 1梁爱斌 1叶辉1
作者信息
- 1. 上海第二医科大学附属新华医院/上海儿童医学中心血液肿瘤科,上海,200127
- 折叠
摘要
Abstract
Objective In order to develop a primary exploration of the relationship between glutathione S-transferase (GST) polymorphism and tumor susceptibility or therapeutic correlation in Han nationality, the genetic polymorphism of GST in healthy Han nationality of Shanghai was investigated and the candidate's single nucleotide polymorphism (SNP) was screened. Methods Automatic sequencing with labelled fluorescence was used to screen the SNPs of GSTT1 and GSTM1 in 20 healthy Han people. Results Point mutation was found at 86 057 site between exon 4 and exon 3 of GSTT1 in 4 cases, with guanine G substituted by adenine A. It may be a new candidate's SNP of GSTT1 after compared with genebank's SNP database. G&A heterozygotes could be found at 793 site and 921 site of exon 5 in all cases. Many candidate's SNPs were discovered in all 8 exons of GSTM1 and most of them were heterozygotes. 40% of the examinees showed adenine A deletion in exon 2. All examinees were A&G heterozygotes at 1 383 site and C&G heterozygotes at 1 385 site. At 101 site, 60% of the people examined showed A&T heterozygotes and 40% of the people had adenine A homozygotes. We found deletion of many base pairs or short fragments after 190 bp of exon 2. Conclusions The genetic polymorphism of GST varies greatly in healthy Han people in Shanghai. It remains to be discussed further whether the polymorphisms only occurred in Han nationals and correlated with tumor susceptibility and whether these possible candidate's SNPs could alter amino acid code resulting in variation of the primary structure of protein and alteration of GST acitivity.关键词
谷胱甘肽S转移酶/遗传多态性/汉族Key words
Glutathione S-transferase/Genetic polymorphism/Han nationality分类
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袁晓军,顾龙君,赵金彩,陈文高,梁爱斌,叶辉..上海地区汉族人谷胱甘肽S转移酶基因多态性分析[J].中国当代儿科杂志,2003,5(4):289-293,5.
