肝细胞癌患者中p53基因的突变研究

STUDIES ON MUTATIONS OF p53 GENE IN HCCs

为了解肝细胞癌（ＨＣＣ）中ｐ５３基因的突变情况，收集８６例ＨＣＣ手术切除标本，采用聚合酶链反应－单链构象多态性（ＰＣＲ／ＳＳＣＰ）、聚合酶链反应－限制性片段长度多态性（ＰＣＲ／ＲＦＬＰ）和ＤＮＡ序列分析，研究了ｐ５３基因的突变情况。８６例ＨＣＣ中，ｐ５３基因的突变率为３６％，其中，密码子２４９的突变率为３３．７％，１例ＳＳＣＰ和ＲＦＬＰ均提示密码子２４９存在突变者经ＤＮＡ序列分析显示密码子２４９的第三个碱基发生了ＡＧＧ／ＡｒｇＡＧＴ／Ｓｅｒ突变。以上结果提示，ＨＣＣ中，ｐ５３基因的突变主要以点突变为主，主要发生在密码子２４９，其突变率。

In order to inverstigate mutations of p53 gene and their significance in hepatocarcinogenesis in HCCs, mutations of p53 gene were studied in surgical removed HCC specimens by means of PCR/SSCP,PCR/RFLP and sequencing. Among 86 cases of HCC, the mutation rate of p53 gene was 36%, that of codon 249 was 33.7%. Mutation of AGG/ArgAGT/Ser in codon 249 was found by DNA sequencing of a randomly selected HCC case which was positive for both SSCP and RFLP analyses. These results suggested that the major mutation pattern of p53 gene in HCCs from southern China was point mutations which mainly occurred in codon 249 with the same mutant spectrum and pattern as these in high incidence regions of HCC.