p53基因第7、8外显子突变与广西肝癌家族聚集遗传易感性的关系  

Correlations between p53 gene mutations in exon 7/8 and genetic susceptibility to familial aggregation of hepatocellular carcinoma in high incidence area of Guangxi

作　　者：于冰雪 吴健林[1] 吴继周[1] 龚婷婷[1] 王尊付 钟彬[1] 

机构地区：[1]广西医科大学第一附属医院,南宁530021 [2]广西医科大学第六附属医院

出　　处：《山东医药》2016年第38期23-25,共3页Shandong Medical Journal

基　　金：广西自然科学基金资助项目(2013GXNSFAA019181)

摘　　要：目的探讨p53基因第7、8外显子突变(exon7/exon8)与广西肝癌高发区肝癌家族聚集遗传易感性的关系。方法依配对方法选择广西肝癌高发区肝癌高发家族、肝癌单发家族和无癌家族中未发生肝癌的家族成员各123例为家族组,同时选择广西肝癌高发区内30例肝癌患者作为肝癌组。控制HBV、HCV感染及环境因素后,应用聚合酶链式反应-单链构象多态性分析结合基因测序的方法筛查p53基因exon7/exon8突变情况。结果肝癌组p53基因exon7/exon8总突变率为13.3%(4/30),家族组exon7/exon8总突变率为0,P<0.05。结果 p53基因exon7/exon8突变可能不是广西肝癌高发区肝癌家族聚集的遗传易感因素。Objective To investigate the relationship between the mutations of exon7/exon8 of p53 gene and genetic susceptibility to familial aggregation of hepatocellular carcinoma in high incidence area of Guangxi. Methods We selected patients from families who had two or more HCC, families who had only one HCC, and families who had no HCC so far. Each family had 123 cases, and all the families were selected from the high incidence of HCC areas of Guangxi. They were taken as the family groups. Meanwhile, another 30 cases of HCC patients were collected from high incidence of hepatocellu- lar carcinoma as the HCC group. HBV infections, HCV infections and environmental factors were controlled as confounding factors. Polymerase chain reaction-single strand conformation polymorphism （PCR-SSCP） was used to screen the mutations of exon 7/exon 8 of p53 gene. Results The total mutation rate of exon 7/exon 8 of p53 gene in the HCC group was 13.3% （4/30）. The mutation rate of exon 7/exon 8 of p53 gene in the three family groups was 0. There was significant difference between the family groups and the HCC group （ P 〈 0.05 ）. Conclusion p53 gene mutations in exon 7/exon 8 may not be the genetic susceptibility factors for familial aggregation of hepatocellular carcinoma in high incidence area of Guangxi.

关 键 词：原发性肝癌 家族聚集性 P53基因 基因突变 聚合酶链式反应-单链构象多态性分析 广西 

分 类 号：R735.7[医药卫生—肿瘤]