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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 understand the genetic polymorphisms of MTHFR and CBS in three ethnic minorities in northern China and to obtain population genetic data of MTHFR C677T and A1298 C and CBS T833C and G919A loci. Methods The genotype distributions of Korean, Yanbian, Jilin Uygur and Hui nationality were investigated by PCR-RFLP and PCR-ARMS respectively. Results The frequency of MTHFR677 homozygous mutation was 16.7% and 20.9% respectively in Hui and Korean ethnic groups, which was consistent with the overall level in northern China, while the frequency of homozygous mutation in Uighur population was lower than that of other ethnic groups (P <0.05), but the difference was not significant P> 0.05). The frequency of homozygous mutation of CBS gene T833 C in Korean population (7%) was lower than that of the other two ethnic groups (15.8% ~ 16.7%). Conclusion CBS T833 C site polymorphism may also exist population differences.