中国汉族人细胞色素P_(450) _2D_6Ch基因特点研究  

The polymorphism of cytochrome P 450 2 D 6Ch gene in Chinese subjects.

作　　者：陶恩祥[1] 刘焯霖[2] 邵明[2] 潘锡榜[2] 

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

出　　处：《中国优生与遗传杂志》1998年第6期16-17,32,共3页Chinese Journal of Birth Health & Heredity

摘　　要：细胞色素Ｐ４５０２Ｄ６（ＣＹＰ２Ｄ６）基因的多态性是一种药物代谢的遗传变异，其表型分为强代谢型和弱代谢型。而且表型和基因的多态性存在明显的种族差异。本文利用ＰＣＲ－ＲＦＬＰ技术对１００名正常中国人ＣＹＰ２Ｄ６基因的Ｃｈ型突变特点做了分析，结果发现，在ＣＹＰ２Ｄ６基因的第１８８位点Ｃ→Ｔ的频率为０．５７，第４２６８位点Ｇ→Ｃ的频率为０．６６，而且Ｔ１８８／Ｔ１８８、Ｔ２９８８／Ｔ２９８８及Ｃ４２６８／Ｃ４２６８纯合子的比率分别为０．３２、０．０８和０．４２。与国外报道比较，发现中国人ＣＹＰ２Ｄ６基因的这两个位点的多态性分布规律与西方人有明显的不同。The polymorphism of cytochrome P 450 2 D 6(debrisoquine 4 hydroxylase) is a genetic variation in drug metabolism, which can be characterized by two phenotypes, the extensive metabolizer (EM) and poor metabolizer(PM). The frequences of the phenotypes and the polymorphism of CYP 2D 6 gene in different nationalities are obviously different. This paper analysed DNA from 100 Chinese subjects for the characteristic of CYP 2D 6Ch mutation by polymerase chain reaction restriction fragment length polymorphism (PCR RFLP). The frequences of C 188 →T,C 2938 →T,G 4268 →Calleles were 0.57, 0.20 and 0.63 respectively. T 188 /T 188 , T 2938 /T 2938 and C 4268 /C 4268 homozygous alleles were 0.32, 0.08 and 0.42 respectively. In contrast to the other reports, the frequences of T 188 ,T 2938 and C 4268 polymorphisms in the Chinese were shown significantly higher than that of the European.

关 键 词：细胞色素P450 异哇胍羟化酶 中国人 药物遗传学 

分 类 号：R968[医药卫生—药理学] Q987[医药卫生—药学]