静脉血栓栓塞症亚甲基四氢叶酸还原酶基因多态性的检测

Gene polymorphisms of methylenetetrahydrofolate reductase in patients with venous thromboembolism

目的本研究旨在检测MTHFR基因1298A/C、1793G/A和1317T/C多态性在静脉血栓栓塞患者的分布,研究这些多态性与静脉血栓栓塞症的相关性。方法95例静脉血栓栓塞患者(其中下肢深静脉血栓79例,肺栓塞4例,下肢深静脉血栓合并肺栓塞12例)和正常对照95名。应用基质辅助激光解吸附电离飞行时间质谱检测技术检测1298A/C、1793G/A和1317T/C多态性。结果1298A/C在正常人群中的分布AA、AC和CC分别为75.0%、23.9%和1.1%,A、C等位基因频率为87.0%和13.0%;1793G/A多态性在对照组的分布GG、GA和AA分别为85.0%、8.0%和1.0%,G、A等位基因频率为95.7%和4.3%。上述两基因多态性在对照组及静脉血栓栓塞症患者间频率的分布差异无统计学意义,且存在很强的连锁不平衡;所有研究对象未发现1317T/C突变。结论1298A/C、1793G/A和1317T/C多态性与静脉血栓栓塞症无相关性。

Objective To investigate the polymorphisms in methylenetetrahydrofolate reductase （MTHFR） genes 1298A/C, 1793G/A and 1317T/C in patients with venous thmmboembolism （VTE） and evaluate whether these polymorphisms are associated with a VTE risk. Methods The MTHFR gene 1298A/C, 1793 G/A and 1317T/C polymorphisms were investigated in 95 VTE patients （79 with deep venous thrombosis, 4 with pulmonary thmmboembolism and 12 with combined deep venous thrombosis and pulmonary thmmboembolism） and 95 normal controls, using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry techniques. Results Distribution of the 1298MC genotypes AA, AC and CC were 75.0%, 23.9% and 1.1%, respectively, in normal individuals, with frequencies of A and C alleles being 87.0% and 13.0%. Distribution of the 1793G/A genotypes GG, GA and AA were 85.0%, 8.0% and 1.0%, respectively, in the controls, with frequencies of G and A alleles being 95.7% and 4.3%. The distributions of 1298MC or 1793 C,/A polymorphisms was not found significantly different within or between groups of VTE patients and normal controls; moreover, they showed a pattern of disequilibrium. No mutations in 1317T/C were found. Conclusion The 1298MC, 1793G/A and 1317T/C polymorphisms were not associated with increased risk of VTE.