中国北方少数民族人群同型半胱氨酸代谢酶的遗传多态性

Genetic polymorphism of homocysteine metabolic enzymes among populations of minority ethnicities in north China

目的 了解我国北方地区3个少数民族人群中MTHFR和CBS基因的遗传多态性,获得MTHFR C677T和A1298 C 以及CBS T833C和G919A位点的群体遗传学数据。方法 应用PCR-RFLP,PCR-ARMS技术分别调查了吉林延边朝鲜族、新疆乌鲁木齐维吾尔族和回族新生儿的基因型分布。结果 回族和朝鲜族MTHFR677纯合突变频率为16.7％和20.9％,与中国北方人群的总体水平基本一致,而维吾尔族人群纯合突变频率(5.3％)低于其它民族,但差异无显著性(P>0.05);朝鲜族人群CBS基因T833 C纯合突变频率(7％)低于其它两个民族(15.8％～16.7％)。结论 CBS T833 C位点多态性也可能存在群体差异。

Objective To find out genetic polymorphism of homocysteine metabolic enzymes, MTHFR and CBS,among the three minority ethnicities in north China. Methods PCR-RFLP and PCR-ARMS techniques were used to detect MTHFR C677T,A1298C and CBS T833C,G919A polymorphisms among newborns of Hui,Korea,Uygur ethnicities. Results For Hui and Korean MTHFR C677T homozygotes frequecies are 16. 7%and 20.9%,respectively, which are accordant with the frequency of the total population of north China. While that of Uygur is lower than the others (5.3%), but not significantly (P> 0. 05 ). CBS T833C homozygotes frequency of Korea( 7% )is lower than the other two(15.8%-16.7%). Conclusion Population variation must also be exist for CBS T833C polymorphsim.