MTHFR C677T基因多态性与深静脉血栓形成的关系

Relationship between Genetic Polymorphism of MTHFR C677T and Lower Extremities Deep Venous Thrombosis

目的研究亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因的多态性与深静脉血栓形成(deep vein thromgbosis,DVT)的关系,探讨DVT的病因学。方法以101例下肢DVT患者(DVT组)和同期行健康体检的正常人群120例(对照组)的血白细胞为样本,应用等位基因序列特异性引物聚合酶链反应(polymerase chain reaction-sequence specific pri mer,PCR-SSP)多态性技术检测2组的MTHFR基因第677位点的多态性,分别比较每2组的基因型和等位基因的分布频率。结果 MTHFR的677位点CC、CT和TT基因型频率在DVT组中分别为41.58%、25.74%、32.67%,在对照组中分别为58.33%、23.33%、18.33%,MTHFR的677位TT基因型频率2组比较,差异有统计学意义(P<0.05)。结论 MTHFR基因第677位点的TT基因型多态性可能与DVT的发病有关。

Objective To detect the distribution of polymorphism of methylenetetrahydrofolate reductase（MTHFR） gene in lower extremities deep venous thrombosis,and to evaluate the etiology of deep venous thrombosis.Methods Polymorphism of the 677th site C/T of MTHFR gene in 101 patients with lower extremities deep venous thrombosis（DVT group） and 120 healthy subjects（control group） was detected by polymerase chain reaction with sequence specific primers（PCR-SSP）.Genotype and allelic frequencies were compared between the two groups.Results MTHFR C677T genotype frequencies of CC,CT and TT were 41.58%,25.74% and 32.67% in DVT group,and 58.33%,23.33% and 18.33% in control group,respectively.There was a significant difference in TT genotype frequency between the two groups（P0.05）.Conclusion The frequency of MTHFR 677TT genotype may be correlated with the morbility of deep vein thrombosis.