广东人群CYP3A4基因rs28371759(20070T>C)位点多态性调查

Investigation of the rs28371759 polymorphism of CYP3A4 gene in Guangdong population

目的:探讨广东人群CYP3A4基因rs28371759(20070T>C)位点的分布特点,为广东患者使用CYP3A4底物药提供理论参考依据。方法:以200名广东志愿者的口腔拭子DNA为模板,PCR扩增包含rs28371759多态位点的DNA片断,用限制性内切酶MspI消化PCR产物,通过聚丙烯酰胺凝胶电泳-银染获得样品的限制性酶切图谱用于判别基因型。结果:在受检的200例样品中,检出杂合子3例,余者皆为野生型纯合子。野生型纯合子、杂合子、突变型纯合子的频率分别为0.985、0.015、0,突变等位基因20070C即CYP3A4*18A的频率为0.007 5。结论:本研究得到了广东人群CYP3A4基因rs28371759位点的多态性分布情况,为研究CYP3A4基因多态性与临床药物效应的相互关系奠定了基础。

AIM:To study the genotype distribution of rs28371759(20070T>C)polymorphism of CYP3A4 in Guangdong population and to supply reference information for clinical safe medication of drugs metabolized by CYP3A4.METHODS:Taking 200 Guangdong volunteers' buccal swabs DNA as templates,then the DNA fragments encompassing the rs28371759 polymorphic locus were amplified by polymerase chain reaction,the amplified products were subjected to restriction enzyme analysis with MspI,then the digested products were subjected to polyacrylamide gel electrophoresis and sliverstaining,restriction enzyme maps derived were used for determining the corresponding genotypes.RESULTS:Among these detected 200samples,heterozygotes were found in 3cases,while the others were wild-types.The wild homozygotes,heterozygotes,mutant homozygotes were 0.985,0.015,0 respectively.The frequency of mutant allele 20070 C was 0.0075.CONCLUSION:This research shows distribution of CYP3A4 gene rs28371759polymorphism locus in Guangdong population,which lay a foundation for researching the relationship between CYP3A4 gene polymorphism and clinical drug effect.