【摘要】 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。更多还原

【Abstract】 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 polymorphism(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 Leishan 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.更多还原