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目的 测定GST基因在上海地区健康汉族人中的遗传多态性 ,筛选出汉族人的GST候选单核苷酸多态性 (SNP)位点 ,为开展GST基因多态性与汉族人群肿瘤易感性及治疗相关性研究作一初步探索。方法 采用荧光标记自动测序法 ,筛选GSTT1,GSTM1基因在 2 0名上海地区的汉族健康志愿者中的候选SNP位点。结果4例受检者在GSTT1外显子 4和 3之间的第 86 0 5 7位点发生点突变 ,由腺嘌呤A取代鸟嘌呤G ,经与Genebank中SNP数据库比对 ,可能为一新的GSTT1基因候选SNP位点 ;在外显子 5的第 793位点和 92 1位点 ,所有受检者均为G&A的杂合子。GSTM 1在 8个外显子中均发现有候选SNP位点 ,但多为单核苷酸的杂合子。约 4 0 %受检者的外显子 2出现腺嘌呤A缺失 ,所有受检者在第 1383位点和 1385位点分别是A&G受C&G杂合子 ;在第 10 1位点 6 0 %个体为A&T杂合 ,4 0 %个体为腺嘌呤A的纯合子。我们还初步发现在外显子 2的 190bp以后可能存在多个碱基或小片段缺失。结论 上海地区健康汉族人的GST基因具有丰富的遗传多态性。这些多态性是否为汉族人所特有、与肿瘤易感性的关系 ,以及这些可能的候选SNP位点是否会造成其编码氨基酸的改变并引起产物蛋白一级结构的变化、进而导致GST酶活性发生改变而表现为具有不同的表型及基因型 ,尚需深入?
Objective To determine the genetic polymorphism of GST gene in healthy Han population in Shanghai and to screen GST candidate single nucleotide polymorphism (SNP) loci in Han population. To investigate the association between GST polymorphism and susceptibility to cancer in Han population And treatment related research for a preliminary exploration. Methods The SNPs of GSTT1 gene and GSTM1 gene in 20 Han healthy volunteers in Shanghai were screened by fluorescent-labeled automated sequencing. Results Four subjects had a point mutation at position 86 0 57 between exon 4 and 3 of GSTT1, and guanine G was substituted by adenine A, which may be a new one when compared with the SNP database in Genebank Of GSTT1 gene candidate SNP sites; in exon 5 793 and 92 1 locus, all subjects were G & A heterozygotes. GSTM 1 found in all eight exons SNP candidate sites, but mostly single-nucleotide heterozygotes. About 40% of the subjects showed adenine A deletion in exon 2, all subjects were A & G heterozygotes at positions 1383 and 1385, and 60% of individuals at position 101 were A & T heterozygous, 40% of individuals are adenine A homozygotes. We also initially found that more than 190bp of exon 2 may exist multiple base or small fragment deletion. Conclusion The GST gene of healthy Han nationality in Shanghai is rich in genetic polymorphism. Whether these polymorphisms are unique to Han people and their relationship to tumor susceptibility and whether these potential candidate SNP sites cause changes in their encoded amino acids and lead to changes in the primary structure of the product protein leads to GST enzyme activity Change and showed different phenotypes and genotypes, still need further?