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目的 检测人类O6 甲基鸟嘌呤 DNA甲基转移酶 (MGMT)基因 5个外显子的单核苷酸多态 (SNPs)及其与肺癌的关系。方法 采用聚合酶链式反应 (PCR) 单链构像多态性 (SSCP) DNA直接测序法对 10 0例正常人和 6 0例肺癌患者外周血白细胞进行MGMT基因SNPs研究。结果 在正常人群和肺癌患者中检测到MGMT基因的第 3、4外显子上存在着SNPs ,即第 3外显子上第 2 5 0位碱基C被T所取代 ,导致错义突变 (CTTTTT ,使Leu84Phe) ;第 4外显子上第 2 80位碱基C被T取代 ,导致同义突变 (TTCTTT ,均编码Phe)。这两个位点的SNPs在两组人群间的检出率差异无显著性(P >0 0 5 )。结论 MGMT基因第 3、4外显子上存在着SNPs ,其多态改变与肺癌形成的关系较弱。
Objective To detect single nucleotide polymorphisms (SNPs) of 5 exons of methylguanine DNA methyltransferase (MGMT) gene and its relationship with lung cancer in human. Methods Single nucleotide polymorphism (SSCP) DNA sequencing was used to detect the SNPs of MGMT gene in peripheral blood leukocytes from 100 healthy controls and 60 lung cancer patients. Results SNPs were detected in exon3 and exon4 of MGMT gene in normal population and lung cancer patients, that is, base C at position 250 of exon 3 was replaced by T, leading to missense mutation CTTTTT, Leu84Phe); Substitution of base C at position 280 on exon 4 with T results in synonymous mutations (TTCTTT, both encoding Phe). There was no significant difference in the detection rate of SNPs between the two groups (P> 0.05). Conclusion There are SNPs in Exon 3 and Exon 4 of MGMT gene, and the polymorphisms of MGMT gene have a weak relationship with lung cancer.