【摘要】 目的　探讨 N5,1 0 -亚甲基四氢叶酸还原酶 ( MTHFR) 677C→T位点突变与晚发型脑血管病的关系。方法　采用多聚酶链反应 -限制性内切酶片段长度多态性 ( PCR-RFLP)方法测定 1 0 7例脑血管病患者及 78例健康对照组 MTHFR基因多态性。结果　 ( 1 )两组 MTHFR基因型频率分布差异有显著性 ( P <0 .0 1 )。患者组纯合子 ( T/ T)突变频率 ( 2 2 .4% )较对照组 ( 1 9.0 % )升高 ,但统计学差异无显著性 ( P =0 .0 5 7)。杂合子 ( T/ C)频率( 61 .7% )较对照组 ( 4 1 .8% )明显升高 ,差异有显著性 ( P <0 .0 1 )。脑血管病患者发生 T等位基因型频率也较对照组显著升高 ,差异有显著性 ( P <0 .0 1 )。 ( 2 ) MTHFR677C→T突变基因型的患者或 T等位基因型患者患病的危险性较对照组显著增加 ,杂合子患病的危险性更大。结论　MTHFR677C→ T位点突变增加脑血管病的危险性 ,可能是脑血管病的易感基因。更多还原

【Abstract】 Objectives To investigate the relationship of genetic polymorphisms of N 5,10-methylenetetrahydrofolateb reductase gene to cerebral vascular disease. Methods The polymorphisms of N 5,10-methylenetetrahydrofolateb reductase gene were analyzed in 107 patients and 78 healthy subjects with polymaerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). Results (1)There were significant differences in the frequencies of MTHFR 677C→T genotypes between two groups(P<0.01). The frequencies of homozygous mutation (T/T) (22.4%) and heterozygous mutation(T/C)(61.7%) were higher in tested cases than in controls(T/T 19.0%,T/C 41.8%,respectively),but the later was statistically significant(P <0.05).The frequency of T alleles was also significantly higher in tested cases than in controls (53.3% and 39.4%, respectively, P<0.01). (2)The risk is markedly high in cases with mutant and T alleles genotypes. The heterozygous genotypes had higher risk than other genotypes.Conclusions MTHFR677C→Tmutationmay be a risk factor for cerebral vascular disease.更多还原