【摘要】 目的探讨N5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T位点突变与蒙古族原发性高血压病及高血压病合并脑血管病患者之间的关系。方法采用Sequenom系统检测110例蒙古族原发性高血压病患者、78名高血压病合并脑血管病患者及115例健康对照组MTHFR基因多态性。结果蒙古族原发性高血压病人群MTHFR基因TT基因型频率及T等位基因频率与正常人群相比差异无显著性(P>0.05);蒙古族高血压合并脑梗死人群与高血压合并脑出血人群的MTHFR基因型TT基因型及T等位基因频率分别明显高于正常对照组,有显著性差异(P<0.05)。结论MTHFRC677T位点TT基因型及T等位基因突变增加蒙古族原发性高血压病人群患脑血管病的危险性,可能是蒙古族原发性高血压病人群患脑血管病的易感基因。更多还原

【Abstract】 Objective To investigate the association between C667T point mutation of N5,10-methylene tetrahydrofolate reductase (MTHFR) and mongol nation patients with primarily hypertension disease and hypertension complicating cerebrovascular disease. Methods Sequenom system used to test MTHFR genepolymorphism of 110 patients with primarily hypertension disease、78 patients with cerebrovascular disease and 115 healthy adults were tested as controls. Results The frequencies of TT homogenesis (0.15) and T allele (0.32) in mongol nation patients with primarily hypertension disease had no significent differece with those in controls (0.10 and 0.29 respectively)(P>0.05);patients with hypertension complicating cerebral infarction (0.24 and 0.40 respectively) and patients with hypertension complicating cerebral hemorrhage (0.28 and 0.47 respectively) were significently higher than those in controls(P<0.05). Conclusions TT homogenesis and T allele of MTHFR C677T point mutation can increase cerebrovascular disease risk in mongol nation patients with primary hypertension disease and may be predisposing genes of cerebrovascular disease in mongol nation patients with primary hypertension disease更多还原