5,10-亚甲基四氢叶酸还原酶C677T突变及同型半胱氨酸与有家族聚集现象脑血管病的关系

Relationship between MTHFR C677T mutation, homocysteine and cerebrovascular disease with familial history

目的 探讨 5 ,1 0 亚甲基四氢叶酸还原酶 (MTHFR)C677T突变及血浆同型半胱氨酸(homocysteine,Hcy)与有家族聚集现象脑血管病的关系。 方法 采用聚合酶链反应 限制性片段长度多态性分析法 (PCR RFLP)分析 2 0个有家族聚集现象的脑血管病家系成员MTHFRC677T突变 ,同时采用反相高效液相色谱 荧光检测法对血浆Hcy的浓度进行测定。结果 ①有家族聚集现象的脑出血组中患者与Ⅰ级亲属的MTHFRC677T突变频率分别为 50 0 %、40 5 % ,Ⅱ、Ⅲ级亲属MTHFRC677T频率为 31 8%、2 1 8% ;有家族聚集现象的脑梗死组中患者与Ⅰ级亲属的MTHFRC677T突变频率分别为 54 2 %、52 4% ,Ⅱ、Ⅲ级亲属MTHFRC677T突变频率为 2 0 7%、1 5 0 % ,有家族聚集现象的脑出血组、脑梗死组中患者与Ⅰ级亲属的MTHFRC677T突变频率分别高于其Ⅱ、Ⅲ级亲属 ,其差异有非常显著意义 (P <0 0 1 ) ;②有家族聚集现象的脑出血家系MTHFRC677T突变的纯合子、杂合子和野生型者血浆Hcy浓度分别为 (2 0 3± 7 4) μmol/L、(1 7 0± 9 4) μmol/L、(1 8 1± 8 8)μmol/L ,它们之间比较 ,差异无显著意义 ;有家族聚集现象的脑梗死家系MTHFRC677T突变的纯合子、杂合子和野生型者血浆Hcy浓度分别为 (2 1 5± 8 3) μmol/L、(1 6 8± 4 4) μmol/L、(

Objective To observe the relationship between the gene mutation of MTHFR C677T, the levels of plasma homocysteine and cerebrovascular disease with famial history Methods The gene mutation of MTHFR C677T in members of 20 kindreds of cerebrovascular disease with famial history was determined by method of polymerase chain reaction and restriction fragment length polymorphism (PCR RFLP) The levels of plasma homocysteine were assayed by method of reversed phase high performance liquid chromatography(RP HPLC)with fluorometric detection Results ①Mutation frequency of MTHFR C677T in cerebral hemorrhage with familial history (CHFH) patients was 50 0%, and of the first degree relatives was 40 5%, both being higher than that in the second degree relatives (31 8%, P <0.01) and three degree relatives (21 8%, P <0 01); Mutation frequency of MTHFR C677T in cerebral infarction with familial history (CIFH) patients (54 2%), first degree relatives(52 4%)was higher than that in the second degree relatives (20 7%, P <0 01) and three degree relatives (15 0%, P <0 01);②Plasma homocysteine levels in homozygote, heterozygote, wild type of MTHFR C677T in kindred of CHFH were (20 3±7 4)μmol/L, (17 0±9 4)μmol/L, (18 1±8 8)μmol/L, respectively,which were no statistical significance;Plasma homocysteine levels in homozygote, heterozygote, wild type of MTHFR C677T in kindred of CIFH were (21 5±8 3)μmol/L, (16 8±4 4)μmol/L, (19 8±7 0)μmol/L respectively,which were no statistical significance;③Plasma homocysteine levels in group of cerebral hemorrhage, group of cerebral infarction were (17 5±9 4)μmol/L, (18 1±7 4)μmol/L respectively,which were no statistical significance Conclusions CVD family history might be correlated with the mutation of MTHFR C677T