中国汉族、维吾尔族、哈萨克族CYP2D6基因型与表型比较

CYP2D6 genotypes and phenotypes in Chinese Han,Uygur and Kazakh populations

细胞色素P450 2D6（CYP2D6）是最具有基因多态性的药物代谢酶,在不同种族人群中呈遗传多态性并存在明显的种族差异,目前已发现70多个变异位点[1]。基因突变可以引起酶活性及数量的差异[2],

This study is to compare the influence of CYP2D6 ＊3 and ＊4 genotypes and phenotypes on the metabolic activity of CYP2D6 in Chinese Han,Uygur and Kazakh ethnic groups.Allele specific amplification（ASA） was used to determine the CYP2D6＊3 and CYP2D6＊4 genotypes.Phenotypes of CYP2D6 in all subjects were determined using dextromethorphan as probe drug by HPLC methods.Among the 132 Han subjects,one subject（0.76%） exhibited the ＊1/＊3 combination,and one（0.76%） exhibited the ＊1/＊4.Among the 136 Uygur subjects,4 subjects（2.94%） showed the ＊1/＊3 combination,12（8.82%） showed ＊1/＊4,4（2.94%） showed ＊4/＊4,and one（0.74%） showed ＊3/＊4.Among the 116 Kazakh subjects,2（1.72%） exhibited the ＊1/＊3 combination,7（6.03%） exhibited ＊1/＊4,and one（0.86%） showed ＊4/＊4.This research revealed significant differences in the occurrence frequencies of the CYP2D6 genotype between Han and Uygur ethnic groups,as well as between Uygur and Kazakh populations.However,no difference was found between Han and Kazakh populations.In addition,the prevalence of PMs of the Uygur is comparable to that of the Caucasians.However,the molecular mechanism underlying the poor metabolism is different in these two populations.