贵州苗族CBS基因与MTHFR基因多态性研究

目的对贵州雷山西江苗族胱硫醚合酶（cystathionine beta-synthase,CBS）基因与亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase,MTHFR）基因多态性进行研究。方法采用PCR-限制性片断长度多态性（PCR-RFLP）、PCR-变性梯度凝胶电泳（PCR-DGGE）-基因测序（Gene sequenceing）的方法检测贵州雷山西江苗族CBS基因与MTHFR基因的基因频率及基因型的分布。结果CBS基因的699C→T等位基因频率为5.6%、833 T→C等位基因频率为29.4%。MTHFR基因的677C→T等位基因频率为10.64%、1298 A→C等位基因频率为48.66%。结论同一民族,胱硫醚合酶基因与亚甲基四氢叶酸还原酶基因存在群体差异,这种群体差异可能与人群对多种疾病的群体易感性有关。

Study of gene polymorphism of CBS and MTHFR in miao of Guizhou

Objective： To study the genetic polymorphisms of methylenetetrahydrofolate reductase （MTHFR） and cystathionine beta- synthase （CBS） among the Miao populations in Guizhou. Methods： The techniques of PCR- restriction fragment length poly- morphism （ PCR - RFLP） and PCR - denaturing gradient gel electrophoresis （ PCR - DGGE） - Gene sequenceing are used to detect the gene frequency and genotype frequency of two mononucleotide sites （677 and 1298） of MTHFR among the Miao population in Leis- han Xijiang County, Guizhou province. Results ： The detection rates of CBS gene 699C→T and 833 T→C genetypes are 5.6% and 29.4%. The detection rates of MTHFR gene 677C→T and 1298 A→C genetype are 10. 64% and 48. 66%. Condusion： There is population difference on MTHFR gene and CBS gene in the same group. The difference is possible association with various diseases susceptibility of population.