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为了研究p53基因5/6外显子突变与广西肝癌高发地区肝癌家族聚集性的关系。研究采用配对方法,选取肝癌高发家族、肝癌单发家族和无癌家族中未发生肝癌的家族成员各130例作为研究对象,同时选取上述高发地区肝癌患者30例作为肝癌组对照。应用PCR-SSCP技术检测研究对象外周血细胞DNA中p53基因5/6外显子的突变情况并进行基因测序。研究发现三组家族成员中p53基因5/6外显子的突变率为0%。肝癌组中p53基因5/6外显子的总突变率为10%(3/30)。肝癌组p53基因5/6外显子的总突变率与肝癌家族组间突变率比较,差异均具有统计学意义(p<0.05)。综上,p53基因5/6外显子突变可能不是广西肝癌高发区肝癌家族聚集性的遗传易感因素,广西肝癌高发区肝癌家族成员中可能尚未发生p53基因5/6外显子突变或较为罕见,肝癌患者中出现的p53基因5/6外显子突变可能是在后天多因素的影响下发生,从而参与了肝癌的发生发展。
In order to investigate the p53 gene 5/6 exon mutations and high incidence of liver cancer in Guangxi family members of the relationship of liver cancer. In this study, we selected 130 cases of family members with high incidence of HCC, single-family HCC and non-HCC without HCC as research object, and selected 30 cases of HCC as control group. The mutation of p53 gene 5/6 exon in peripheral blood DNA was detected by PCR-SSCP and sequenced. The study found that the mutation rate of p53 gene 5/6 exons among the three family members was 0%. The overall mutation rate of p53 gene 5/6 exon in HCC group was 10% (3/30). The total mutation rate of p53 gene 5/6 in HCC patients was significantly higher than that in HCC patients (p <0.05). In summary, p53 gene 5/6 exon mutation may not be the genetic predisposition to familial aggregation of HCC in Guangxi high-incidence areas, p53 gene 5/6 exon mutation may not yet occur in the members of the HCC population in high incidence area of Guangxi Rare, 5/6 exon mutation of p53 gene in patients with liver cancer may occur under the influence of many factors, and thus participate in the occurrence and development of liver cancer.