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目的探讨PTEN外显子5、8基因突变与肝细胞癌(HCC)的关系。方法 44例HCC患者收集39份石蜡组织标本和7份外周血单个核细胞标本。标本提取DNA,进行巢式PCR扩增,扩增产物纯化后分别测序,结果采用SeqMan软件分析。结果 45份标本PTEN外显子5、8未发现基因突变。1份HCC病理标本在PTEN外显子8第922位出现CGT-TGT点突变(c922C>T),引起编码蛋白308位Arg308Cys突变。PTEN基因突变率为2.17%。结论 PTEN在HCC中突变频率不高。PTEN基因正常并不意味着蛋白正常表达,PTEN基因突变可能是PTEN蛋白表达缺失的原因之一,但不是惟一原因。
Objective To investigate the relationship between PTEN exon 5,8 gene mutation and hepatocellular carcinoma (HCC). Methods Totally 39 paraffin-embedded specimens and 7 peripheral blood mononuclear cells were collected from 44 HCC patients. The DNA was extracted from the specimens and amplified by nested PCR. The products were purified and sequenced respectively. The results were analyzed by SeqMan software. Results No mutation was found in 45 PTEN exon 5,8. One HCC pathological specimen showed a CGT-TGT point mutation (c922C> T) at position 922 of exon 8 of PTEN, resulting in the mutation of Arg308Cys at position 308 of the coding protein. The mutation rate of PTEN gene was 2.17%. Conclusions The frequency of PTEN mutation in HCC is not high. PTEN gene is normal and does not mean that the normal expression of protein, PTEN gene mutation may be one of the reasons PTEN protein expression is missing, but not the only reason.