摘要
目的:探讨N^5,N^(10)-亚甲基四氢叶酸还原酶(MTHFR)基因多态性与国人深静脉血栓形成(DVT)的关系。方法:采用PCR-RFLP检测73例DVT患者和109名健康对照者MTHFR C677T、A12989C突变,计算病例组与对照组的基因型频率、等位基因频率以及突变与DVT的相关性。结果:病例组677TF、677CT基因型频率和T等位基因频率分别为38.4％、49.3％和63.0％,明显高于对照组(分别为15.6％、46.8％和39.0％。x^2=19.393,P<0.01;x^2=20.200,P<0.01)。677TT和677CT基因型的个体比677CC基因型的个体发生DVT的相对危险分别约高7或3倍(OR_(TT)=7.503,95％CI为2.931～19.207;OR_(TC)=3.215,95％CI为1.391～7.434)。病例组与对照组MTHFR 1298各基因型和等位基因分布无差异(x^2=3.533,P>0.05;x^2=0.100,P>0.05),但1298CC 677CC基因型的个体比1298AA 67CC基因型的个体发生DVT的相对危险约高16倍(OR=16.500,95％CI为1.353～201.290)。结论:MTHFR基因C677T和A1298C突变可能为东北地区人群DVT的危险因素。
Objective: To investigate the relationship between MTHFR gene polymorphism and deep venous thrombosis. Methods: Whole blood sample from 73 patients with deep! venous thrombosis and 109 as healthy controls were obtained for detection of genotype/The genetic polymorphisms of MTHFR C677T and MTHFR A1298C was determined by PCR RFLP protocol. Results: Increased frequencies of TT or TC genotype and T allele for MTHFR C677T in patients were found comparing to healthy controls(38 .4% vs 15.6% ,49.3% vs 46.8,x2=19.393, P<0.01);63.0% vs 39.0% , x2 = 20.200, P < 0.01). Subjects with the 677TT or 677TC genotype had a more than 7-fold or 3-fold increased risk of developing DYT(ORTT=7.503,95% CI,2.931-19.207;ORTC= 3.215, 95% CI, 1.391-7.434) compared with those who had the 677CC genotype. No difference was founded between the frenquencies of MTHFR A1298C genotype of allele in patients and those in controls, but subjects with the 1298CC and 677CC genotype had a more than 16-fold increased risk of developing DVT(OR=16.500,95% CI, 1.353*201.290)compared with those who had the 1298AA and 677CC genotype. Conclusion: The genetic polymorphisms of MTHFR C677T and A1298C may be associated with the development of DVT.
出处
《血栓与止血学》
2003年第2期52-55,共4页
Chinese Journal of Thrombosis and Hemostasis
