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目的 探讨细胞色素P450 3A4.(CYP3A4)基因的多态性与肝癌的关系。方法应用聚合酶链反应(PCR)、变性梯度凝胶电泳(DGGE)、单链构象多态(SSCP)和DNA测序技术,对84例肝癌患者和144例健康对照的CYP3A4基因的多态性进行了研究。结果通过对CYP3A4基因10个外显子的检测,发现2例肝癌患者的第7外显子第15742位核苷酸发生了A—G转换,使得第183位氨基酸残基由天冬酰胺转变为丝氨酸;发现第10内含子存在一单核苷酸多态,表现第20338位核苷酸发生了G→A转换。病例组G/G、G/A和A/A基因型频率分别为59.52％,36.90％和3.58％;对照组则为59.72％,33.33％和6.95％。两组比较没有统计学差异。结论CYP3A4基因可能高度保守,虽有突变,但属罕见。
Objective To investigate the relationship between the polymorphism of cytochrome P450 3A4 (CYP3A4) gene and hepatocellular carcinoma (HCC). Methods Polymorphisms of CYP3A4 gene in 84 patients with hepatocellular carcinoma and 144 healthy controls were analyzed by polymerase chain reaction (PCR), denaturing gradient gel electrophoresis (DGGE), single strand conformation polymorphism (SSCP) and DNA sequencing Study. Results The detection of 10 exons of CYP3A4 gene revealed that A-G conversion occurred at nucleotide 15742 in exon 7 of 2 HCC patients, resulting in the conversion of amino acid residue 183 from asparagine to Serine. A single nucleotide polymorphism was found in the tenth intron, which indicated that G → A transition occurred at nucleotide 20338. The frequencies of G / G, G / A and A / A genotypes were 59.52%, 36.90% and 3.58% in the case group and 59.72%, 33.33% and 6.95% in the control group respectively. There was no statistical difference between the two groups. Conclusion CYP3A4 gene may be highly conserved, although mutations are rare.