【摘要】 目的 :探讨中国人群 2型糖尿病患者中甲烯四氢叶酸还原酶 ( MTHFR)基因多态性与2型糖尿病发病的关系。方法 :采用 PCR技术和限制性内切酶片段长度多态性 ( RFLP)的方法检测患者的 MTHFR基因 677C→ T突变 ,统计各组对象的突变频率。结果 :MTHFR基因 677C→ T突变型等位基因 ( T)频率在病例组和对照组中差异无显著性 ( χ2 =2 .2 9,P>0 .0 5 ) ,TT、CT和CC3种基因型频率差异无显著性。基因型频率的相对风险分析 ,CT基因型患 2型糖尿病风险是CC基因型的 1 .96倍 ,TT基因型患 2型糖尿病风险是 CC基因型的 2 .5 7倍。结论 :MTHFR基因突变型等位基因与 2型糖尿病发生无必然的联系 ,突变基因型并没有增加 2型糖尿病的发病风险更多还原

【Abstract】 Objective:To investigate the relationship between one of the crucial enzymes during the metabolization of homocysteine polymorphism of methylenetetrahydrofolate reductase (MTHFR) and type 2 diabetes mellitus in Chinese population. Methods:The method of PCR restrictive fragment length polymorphism (RFLP) was conducted to examine the 677 C→T mutation of MTHFR gene, and then the frequency of mutation was statistically computed. Results:The allelic frequency of MTHFR677 C→T mutation was no remarkable different between the case and the control groups, and the frequency of the three genetic types was no markedly different between the diabetics and non diabetics. The relative risk suffered from type 2 diabetes mellitus of CT genotype was 1 96 times of the CC genotype, and the TT genotype was 257 times of the CC genotype. Conclusion: There is no remarkable relationship between the allelic gene of mutation of MTHFR gene and type 2 diabetes mellitus, and the genetic type mutation did not increase the risk suffered type 2 diabetes mellitus.更多还原