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p"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口53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。
To investigate the relationship between the mutations in exon 5/6 of p53 gene and familial aggregation of hepatocellular carcinoma (HCC) in high incidence area of Guangxi, China. 130 members whose families have had two or more HCC patients were selected as the case group, and 130 members whose families have had only one HCC case and 130 members whose families without any cancer were selected as controls. At the same time to select the high incidence area of 30 patients with HCC as a comparison. Use the polymerase chain reaction-single strand conformation (PCR-SSCP) to testp53 gene mutations in exon 5/6 and gene sequencing. The mutations rate in exon 5/6 of p53 gene in the three groups was 0%. In 30 cases of HCC, the total mutation rate of p53 was 10% (3/30). The total mutation rates of exon 5/6 in HCC and the three family groups have significant statistically difference (/9〈0.05). In conclusion, the mutations in exon 5/6 of p53 gene may not be genetic susceptibility factors of familial aggregation of hepatocellular carcinoma in Guangxi people. Members of the family of high incidence area of HCC in Guangxi may not yet have mutation in exon 5/6 of p53 gene or rare, the mutations in exon 5/6 of p53 gene may be caused by a variety of factors, which is involved in the occurrence and development of HCC.