中国人细胞色素P450_2D_6基因多态性  

CYTOCHROME P450 2D 6 GENE POLYMORPHISM IN CHINESE POPULATION

作　　者：陶恩祥[1,2] 刘焯霖[1,2] 陈彪[1,2] 潘锡榜 

机构地区：[1]中山医科大学第一附属医院神经科 [2]中山医科大学孙逸仙纪念医院神经科

出　　处：《中华医学遗传学杂志》1998年第1期34-37,共4页Chinese Journal of Medical Genetics

摘　　要：目的为探讨中国人ＣＹＰ２Ｄ６酶基因的多态性分布规律。方法应用聚合酶链反应和ＸｂａⅠ限制性片段长度多态性（ＲＦＬＰ）对１００名正常汉族人的ＣＹＰ２Ｄ６基因做了研究。结果发现在中国人群该基因Ａ、Ｂ、Ｄ和Ｅ４种引起酶活性缺失的突变频率分别为１％、６．５％、０．５％和１％；ＸｂａⅠＲＦＬＰ显示：２９ｋｂ／２９ｋｂ、４４ｋｂ／２９ｋｂ和４４ｋｂ／４４ｋｂ基因型的频率分别为３８％、４６％和１３％；而且还发现虽然Ａ和Ｂ突变主要于２９ｋｂ／２９ｋｂ基因型，但也有１２％的Ｂ突变见于４４ｋｂ／４４ｋｂ基因型。结论中国人ＣＹＰ２Ｄ６基因的这四种引起酶缺乏性的突变频率均较欧美人低。ＸｂａⅠ４４ｋｂ等位基因频率相对较高。Objective To demonstrate the cytochrome P450 2D 6(CY 2D 6) gene polymorphism distribution in Chinese. Methods The polymorphisms of CYP 2D 6 gene in 100 Chinese people were studied with polymerase chain reaction and Xba Ⅰ restriction fragment length polymorphic (RFLP) techniques. Results The frequencies of CYP 2D 6 gene A, B, D and E mutations were 1%, 6.5%, 0.5% and 1%, respectively; the genotypes of 29kb/29kb, 44kb/29kb and 44kb/44kb Xba Ⅰ RFLP were 38%, 46% and 13%, respectively. It was found that 12% of B mutations were linked with even though A and B mutations were mainly associated with 29kb/29kb genotype. Conclusion The frequencies of the four kinds of CYP 2D 6 gene mutation in Chinese were lower than those of the European, but the frequency of Xba Ⅰ 44kb allele was a little higher.

关 键 词：细胞色素P450 CYP2D6基因 中国 遗传多态性 

分 类 号：Q346.5[生物学—遗传学] Q987