摘要
目的分析重庆地区肝细胞癌ｐ５３基因突变谱．方法住院肝细胞癌患者２０例，皆经病理证实，长期在重庆地区居住，其中早期小肝癌４例，中期６例，晚期１０例．采用ＰＣＲ－ＳＳＣＰ，ＰＣＲ直接测序技术分析ｐ５３基因５，６，７和８外显子突变．结果ｐ５３基因总的突变率为４０％．其中外显子５和６各占１０％，外显子７占２０％，未发现外显子８的突变；测序证实外显子７为第２４９位密码子Ｇ→Ｔ的颠换突变．突变病例多为晚期肿瘤．结论重庆地区肝细胞癌存在明显的ｐ５３基因突变。
AIM To study the mutational profile of the p53 gene in hepatocellular carcinoma (HCC). METHODS All the 20 patients were natives of Chongqing, including 4 early stage, 6 mid stage and 10 advanced HCC, and confirmed by pathology. PCR_Single strand conformation polymorphism (SSCP) and PCR direct sequencing were used. RESULTS The overall frequency of p53 gene mutation was 40% (8/20), including 10% in exon 5, 10% in exon 6 and 20% in exon 7, in which G to T transversion mutation was further confirmed by PCR direct sequencing. No mutation was found in exon 8. Almost all the HCC cases with mutation were in advanced stages. CONCLUSION The mutation of p53 gene is found in HCC in Chongqing and the mutation pattern may contribute to AFB 1 contamination and HBV infection.
关键词
肝癌
细胞癌
抑癌基因
P53
基因突变
liver neoplasms/genetics
genes, p53
mutation
carcinoma, hepatocellular/genetics
