宁夏回族人群CYP3A4*6等位基因多态性的研究  

The Allele Polymorphism of CYP3A4*6 in Ningxia Hui Ethnicity

作　　者：李宗吉[1] 王健[2] 王惠成[2] 葛立军[2] 

机构地区：[1]宁夏医科大学医学科学技术中心,银川750004 [2]宁夏自治区人民医院,银川750021

出　　处：《宁夏医科大学学报》2010年第1期30-32,共3页Journal of Ningxia Medical University

基　　金：宁夏自然科学基金资助(NZ07109);宁夏回族自治区卫生厅重点科研课题(W200707)

摘　　要：目的了解宁夏回族人CYP3A4第9外显子的分布特点,为宁夏回族患者使用CYP3A4底物药物提供参考依据。方法收集到180例回族人群血样,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,对其进行测序;同时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法分析了150例正常回族人、30例高脂血症回族志愿者基因的突变情况,发现有2例第17776位点有A插入引起移码突变,使2例杂合子CYP3A4基因第9外显子提前出现终止密码子。其中野生型纯合子频率为98.9%,杂合子频率为1.1%,突变型纯合子频率为0,突变等位基因频率为0.005。结论本研究得到了CYP3A4第9外显子基因多态性在宁夏回族人群中的分布情况,为研究CYP3A4第9外显子基因多态性与临床药物效应的相互关系奠定了基础。Objective To investigate whether the interindividual variation in CYP3A4 can be partly explained by genetic polymorphism. Methods DNA samples from 180 Chinese Ningxia hui subjects were analyzed by polymerase chain reaction and restriction fragment length polymorphism. The amplified fragment was screened, sequenced and the RFLP agarose gel electrophoresis atlas were observe. Results An insertion in A17776 which causes frame shift and an early stop codon inexon 9 was found in 2 beterozygous subject . The allele frequences were 0.005. Conclusion CYP3A4 exon9 genes distribution in Chinese Hui ethnicity is not different from those in other ethnicity.

关 键 词：回族人群 CYP3A4 等位基因 多态性 

分 类 号：Q987[生物学—遗传学]