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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。
Objective To investigate the relationship between N5, 10-methylenetetrahydrofolate reductase (MTHFR) 677C → T mutation and late-onset cerebrovascular disease. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect MTHFR gene polymorphism in 107 patients with cerebrovascular disease and 78 healthy controls. Results (1) There was a significant difference in the frequency distribution of MTHFR genotype between the two groups (P <0.01). The homozygote (T / T) mutation frequency (22.4%) in patients group was higher than that in control group (9.0%), but the difference was not statistically significant (P = 0.057). The frequency of heterozygote (T / C) (61.7%) was significantly higher than that of control group (41.8%), the difference was significant (P <0.01). The frequency of T allele in patients with cerebrovascular disease was also significantly higher than that in the control group (P <0.01). (2) The patients with MTHFR677C → T mutation genotype or T allele had a significantly increased risk of disease compared with the control group, and the risk of heterozygosis was more serious. Conclusion Mutation of MTHFR677C → T increases the risk of cerebrovascular disease and may be a susceptible gene of cerebrovascular disease.