作　　者： ; ; ; ;

机构地区： 广州医学院第二附属医院

出　　处： 《现代临床医学生物工程学杂志》 2005年第5期379-381,共3页

摘　　要： 目的建立一种简便、准确、实用的人CYP3A4第9外显子基因突变频率的检测方法,并了解汉族人CYP3A4第9外显子的分布特点.方法应用聚合酶链反应(PCR)特异性扩增人CYP3A4第9外显子基因序列,扩增产物用限制性内切酶HinfⅠ酶切,琼脂糖凝胶电泳后,观察酶切位点的限制性片段长度多态性(RFLP)图谱.结果运用PCR-RFLP法检测了92名汉族人CYP3A4第9外显子基因点突变,其中野生型纯合子频率为85.9%,杂合子频率为14.1%,突变型纯合子频率为0.突变等位基因频率为0.0706.结论该方法简便、快速、准确,适合于一般实验室检测及大规模的人群调查,汉族人CYP3A4第9外显子也存在相同的突变位点. Objective To establish a simple, accurate and practical method for CYP3A4 exon9 genotyping＇ and identify the distribution feature of CYP3A4 exon9 gene in the Hans in Chinese. Methods CYP3A4 exon9 gene sequences were amplified by using polymerase chain reaction（ PCR）. The PCR products were digested with Hinf I and subjected to electrophoresis on agarose gels. The patterns of restriction fragment length polymorphism（RFLP） of CYP3A4 exon9 gene were distinguished. Results 92 health individuals were investigated with this PCR - RFLP method. The prevalence of genotype for the normal homozygute, the normal/mutant heterozygote and the mutant homozygute was 85.9%, 14.1% and 0, respectively. The frequency of the mutant allele in the subjects was 0. 0706. Conclusions The PCR - RFLP method was considered a rapid and simple technique for obtaining accurate results and also suitable lor routine laboratories and large - scale population studies, CYP3A4 exon9 genes distribution in the Hans in Chinese is undifferent from those in other areas.

关 键 词： 聚合酶链反应 多态性 限制性片段长度

领　　域： [生物学]