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.
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