胱硫醚β合酶基因T833C突变与脑梗死发生的相关性研究  

The correlation between T833C mutation of the cystathionineβ-synthase and cerebral infarction

作　　者：刘建珍[1] 曹传洲[1] 包成梅[1] 郭辰虹[2] 嵇高德[1] 

机构地区：[1]济南市第二人民医院神经内科,250001 [2]山东大学遗传研究所

出　　处：《中国脑血管病杂志》2006年第1期31-33,共3页Chinese Journal of Cerebrovascular Diseases

摘　　要：目的探讨脑梗死患者同型半胱氨酸(Hcy)代谢相关酶胱硫醚β合酶(CBS)基因T833C位碱基突变与脑梗死发病的相关性。方法对67例经头部CT或MR I证实为脑梗死的患者(脑梗死组)和31名健康对照者(对照组),应用聚合酶链反应(PCR)扩增法检测CBS基因T833C多态性,采用高效液相色谱法测定血清Hcy水平。结果在脑梗死组有9例CBS基因纯合子突变,28例为杂合子突变;对照组3名为纯合子突变,5名为杂合子突变。两组基因型频率分布差异亦有显著意义,2χ=11.429,P<0.01;脑梗死组C等位基因频率为34.33%,T等位基因频率为65.67%,与对照组比较差异有显著意义,2χ=8.978,P<0.01。CBS基因杂合突变者血清Hcy浓度显著高于正常基因者(t=4.612,P<0.01)。脑梗死组患者血清Hcy浓度为(23±7)nmol/m l,显著高于对照组(13±4)nmol/m l,两组比较差异有显著性(t=8.826,P<0.01)。结论Hcy血症是脑梗死的独立危险因素,而CBS基因T833C点突变可能是其发病的重要遗传因素。Objective To investigate the correlation between genetic polymorphisms of cystathionine [^-synthase and serum homocysteine in patients with cerebral infarction. Methods CBS T833C polymorphisms were detected by ARMS and serum homocysteine were measured with HPLC in 67 patients with cerebral infarction and 31 controls. Results In patients group, CBS genetic homozygous and heterozygous mutations were found in 9 cases and 28 cases respectively. However, there were 3 and 5 cases respectively in the control group. There was significant difference in the frequencies of genotypes and alleles between the two groups （P 〈 0. 01 ） . The levels of serum homocysteine were markedly higher in the patients with CBS genetic heterozygous mutation than that of other patients （t =4. 612, P 〈 0. 01 ） . The mean serum homocysteine level was higher in patients with cerebral infarction than that in controls （23± 7 versus 13 ± 4μmol/L, t = 8. 826, P 〈 0. 01 ） . Conclusion Hyperhomocysteinemia is an independent risk factor for cerebrovascular diseases. Point mutation of CBS gene T833C may play important part in the mechanism of hyperhomocysteinemia and cerbral infarction.

关 键 词：脑梗塞 胱硫醚Β合酶 半胱氨酸 

分 类 号：R743.3[医药卫生—神经病学与精神病学]