肝细胞性肝癌P53基因多态性定点突变

P53 Gene Polymorphic Point Mutation in Hepatocellular Carcinoma

关键词:  P⁵³基因  多态性突变  肝细胞性肝癌

Key words:  P⁵³ gene  polymorphic mutation  hepatocellular carcinoma

摘要:

对P⁵³阳性的8例肝细胞性肝癌(HCC)广西科学,1995,2(1):55~57)中的7例的P⁵³基因进行DNA单键构象多态性分析(SSCP)和PCR扩增物直接测序。结果,7例均在P⁵³第7外显子第249编码区的3号位发现异常。1例在249编码区的第3碱基微小丧失引起乱码突变;另6例在此位点同时出现突变的T和C带,成为G→(_C^T)的多态性突变形式。外显子5、6、8和9没有异常。估计除黄曲霉毒素B₁外可能有别的致癌因素协同作用造成此种多态性。认为南宁地区是继中国江苏启东和莫桑比克后的第3个HCCP⁵³基因249编码区有集中突变热点的地区。

Abstract:

P⁵³ gene DNA of 7 cases of 8 hepatocellular carcinomas(HCC) with positive P⁵³ mutation (Guangxi Sciences, 1995, 2 (1):55~57) were detected by and proceeded for PCR-SSCP analysis and DNA direct sequencing. 7 HCCs showed a single point abnormality at position 3 of exon 7 codon 249. One showed a microdelection at position 3 of codon 249 leading to a frame shift, othersix showed two bands for mutants T & C at the third base of codon 249, leading to a G→(_C^T) polymorphic mutation form. No other mutation was in exon 5, 6, 8 and 9. There may be more other factors besides aftaloxin B₁ for these polymorphic mutations. Nanning prefecture could be confirmed as a third area in the world with mutational hot-spot at canon 249 in the P⁵³ gene in HCC.