| Objective: Understanding the situation of p53 gene mutations in exon 5/6 in high incidence area of Guangxi, to investigate the relationship between the mutations in exon 5/6 of p53 gene and familial aggregation of hepatocellular carcinoma (HCC),provides a scientific basis for HCC prevention strategies in high incidence area of Guangxi, china.Methods: From the high incidence area of HCC in Guangxi including over 15 counties (districts), with the same gender, age plus or minus five as the matching condition. 130 members were respectively selected from families which with two or more than two HCC patients, or with only one, or without any cancer so far. At the same time to select the high incidence area of 30 patients with HCC as a comparison. All of the families which have no HCC patients, at the same time the HBV and HCV infections were controlled as confounding factors. And then we collected peripheral blood samples and extract the DNA to test p53 gene mutations in exon 5/6 by the use of polymerase chain reaction-single strand conformation (PCR-SSCP) and gene sequencing.Results: (1) There were no significant difference between the three groups in comparison of age, gender, liver function, HBV infection and HCV infection situation (P>0.05). (2) The mutations rate in exon 5/6 of p53 gene in the three groups was 0%. (3) In 30 cases of HCC, the mutation rate of exon 5 was 6.67%(2/30) and the mutation rate of exon 6 was 3.33% (1/30), the total mutation rate was 10% (3/30). The total mutation rates of exon 5 /6 in HCC and the three family groups have significant statistically difference (P < 0.05).Conclusions: (1) The mutations in exon 5/6 of p53 gene may not be genetic susceptibility factors of familial aggregation of hepatocellular carcinoma in Guangxi people. (2) 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. |