【摘要】 目的了解抑癌基因p16在燃煤型砷中毒患者中突变及甲基化的情况和意义。方法采用聚合酶链反应-单链构象多态性(PCR-SSCP)分析和PCR产物克隆测序技术对60例砷中毒患者外周血中p16基因第2外显子突变情况进行检测,同时采用甲基化敏感的限制性内切酶方法对p16基因第1外显子甲基化情况进行分析。结果燃煤型砷中毒患者p16基因第2外显子未发现突变存在;第1外显子SmaⅠ位点甲基化分析显示:癌变组10例患者中有4例出现了甲基化,癌前组12例、一般病变组38例,均未发现甲基化存在。结论p16基因高度甲基化可能是导致砷性肿瘤中p16基因失活的主要方式,并可能在砷致癌过程中起着重要作用。更多还原

【Abstract】 Objective To probe into the situation and significance of p16 gene mutation and methylation in patients with arseniasis caused by coal-burning pollution. Methods PCR-SSCP and PCR product cloning, sequencing were performed to detect mutation of p16 gene exon 2 in peripheral blood of 60 patients with arseniasis caused by coal-burning pollution,at the same time,PCR-based methylation assay was performed to analyze the methylation of p16 gene exon 1. Results No p16 gene exon 2 mutation was found in 60 cases. When Exon 1 of p16 gene was screened using PCR-based methylation assay,the result showed methylation of SmaⅠin 4 cases in carcinoma group(10 cases) , no methylation of SmaⅠof p16 gene found in pre-carcinoma(12 cases) and ordinary pathological change groups(38 cases). Conclusions Hypermethylation of p16 gene is a possibly main cause leading to its inaction in arsenic tumor and plays an important role in arsenic carcinogenicity.更多还原