广东人群CYP3A4*1G等位基因分布频率调查

Investigation of CYP3A4*1G allele frequency in Guangdong population

目的探讨CYP3A4*1G等位基因在广东人群中的分布特征,为广东患者使用CYP3A4底物药提供参考依据。方法提取192例广东人外周血DNA,分别用PCR扩增其CYP3A4基因跨越第10内含子20230G>A位点的DNA片段,PCR产物用AfaⅠ酶切,通过酶切产物的电泳图谱判断基因型。结果 GG、GA、AA 3种基因型的频率分别为63.5%、30.7%、5.7%。等位基因20230A即CYP3A4*1G的频率为21.1%。结论广东人群存在较高频率的CYP3A4*1G等位基因,在使用CYP3A4底物药时应密切关注患者是否存在该突变位点。

Objective To investigate the distribution characteristics of CYP3A4 ＊ 1G polymorphisms in Guangdong population. Methods Total 192 subjects were collected in Guangdong population and blood genomie DNA was used as template. DNA fragment spanning the tenth intron of CYP3A4 （20230G 〉 A） was amplified by polymerase chain reaction （PCR）, followed by digestion with restriction enzyme Afa I. Subsequently, the gene type was defined by restriction fragment length polymorphism （RFLP）. Results The frequencies of wild- type homozygous （GG）, heterozygous （GA） and mutation bomozygous （AA） genotypes were 63.5% ,30.7%, 5.7% ,respectively. The frequency of allele 20230A （ CYP3A4 ＊ 1G） in Guangdong population was 21.1%. Conclusion There is an allele high frequency of CYfr3A4 ＊ 1G in Guangdong population, which suggests that detection of CYP3A4 ＊ 1G genotype may be helpful ：for individual clinical therapy, especially when CYP3A4 substrate drugs are used.