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目的探讨亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因C677T、甲硫氨酸合成酶(methioninesynthase,MS)基因A2756G和胱硫醚β-合成酶(cystathionineβ-synthase,CBS)基因844ins68这3种基因突变在深静脉血栓发病中的意义。方法应用聚合酶链反应-限制性片段长度多态性方法对103例深静脉血栓患者和250名健康对照者进行MTHFRC677T、MSA2756G和CBS844ins68基因多态性的分析,并进行基因型及等位基因频率的计数。对MTHFRC677T和MSA2756G两位点进行单倍型分析。结果MTHFRC677TTT基因型在深静脉血栓组的分布频率(27.2%)高于对照组(17.2%),经χ2检验差异有统计学意义(P<0.05)。MSA2756GAG基因型在深静脉血栓组的分布频率(9.7%)低于对照组(19·2%),经χ2检验差异有统计学意义(P<0·05)。单倍型分析显示病例组中677T-2756A单倍型频率明显高于对照组(P<0·05),677C-2756A单倍型频率明显低于对照组(P<0.05)。CBS844ins68基因型在两组的分布频率差异无统计学意义。结论MTHFRC677T多态性中TT基因型可能是深静脉血栓形成的一个遗传风险因子,MS2756AG基因型可能会减少深静脉血栓的发生。677T-2756A单倍型可能是静脉血栓的危险因素,677C-2756A单倍型可能是静脉血栓的保护因素。CBS844ins68基因突变可能存在种族或地域的差异。
OBJECTIVE: To investigate the effects of methylenetetrahydrofolate reductase (MTHFR) gene C677T, methionine synthase (MS) gene A2756G and cystathionine β-synthase (CBS) gene 844ins68 The Significance of Three Gene Mutations in the Pathogenesis of Deep Venous Thrombosis. Methods The polymorphisms of MTHFRC677T, MSA2756G and CBS844ins68 genes in 103 patients with deep vein thrombosis and 250 healthy controls were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The genotype and allele frequency Count. Haplotype analysis was performed on both MTHFRC677T and MSA2756G sites. Results The distribution frequency of MTHFRC677TTT genotype in deep venous thrombosis group (27.2%) was higher than that in control group (17.2%). The difference was significant (P <0.05) by χ2 test. The distribution frequency of MSA2756GAG genotype in deep venous thrombosis group (9.7%) was lower than that in control group (19.2%). There was significant difference between the two groups (P <0.05). Haplotype analysis showed that haplotype frequency of 677T-2756A in case group was significantly higher than that of control group (P <0.05), haplotype frequency of 677C-2756A was significantly lower than that in control group (P <0.05). The distribution frequency of CBS844ins68 genotype in the two groups showed no significant difference. Conclusion TT genotype in MTHFRC677T polymorphism may be a genetic risk factor for deep vein thrombosis. MS2756AG genotype may reduce the incidence of deep venous thrombosis. 677T-2756A haplotype may be a risk factor for venous thrombosis, 677C-2756A haplotype may be a protective factor of venous thrombosis. CBS844ins68 mutations may be racial or geographical differences.