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胱硫醚β合成酶基因多态性与脑卒中相关性的研究 被引量:5

Relationship between polymorphisms of cystathionine beta-synthase gene and stroke
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摘要 目的 研究胱硫醚β合成酶 (CBS)基因 T2 7796 C多态性与脑卒中的遗传相关性。方法 采用限制性内切酶片段长度多态性方法 (PCR RFL P) ,对 5 9例脑卒中患者和 6 5例健康人 CBS基因 T2 7796 C多态性位点进行检测。结果 病例组 C等位基因占 5 6 .8% ,T等位基因占 4 3.2 % ;正常对照组 C等位基因占 5 1.5 % ,T等位基因占 4 8.5 % ;CBS基因 T2 7796 C多态性位点与脑卒中无明显相关 (P>0 .0 5 )。脑卒中组与正常对照组之间 3种等位基因型分布频率亦均无明显差异 ,其中 CC为 35 .6 %比 2 4 .6 % ;CT为 4 2 .4 %比 5 3.8% ;TT为2 2 .0 %比 2 1.5 % ;P>0 .0 5。缺血性卒中和出血性卒中组间 C、T等位基因及 3种等位基因型分布频率也均无显著性差异 (P均 >0 .0 5 )。结论  CBS基因 T2 7796 C多态性位点与脑卒中无明显相关 ;T2 7796 C多态性位点与脑卒中的类型 (缺血性或出血性 )也无明显相关。 Objective To determine whether the T27796C mutation in cystathionine beta-synthase(CBS) gene is associated with stroke in Chinese. Methods The T27796C mutation in CBS gene of 59 cases with stroke and 65 health controls were detected by polymerase chain reaction-restriction fragment length polymorphisms(PCR-RFLP). Results As this investigation shown, the frequencies of two alleles of T27796C mutation were followed: C was 56.8%, T was 43.2% in cases and C was 51.5%, T was 48.5% in controls. T27796C mutation had no obvious relativity to the stroke(P>0.05). There was no significant difference in frequency of alleles of this mutation between cases and controls(CC: 35.6% vs. 24.6%; CT: 42.4% vs. 53.8%; TT: 22.0% vs. 21.5%; all P>0.05). There was not obvious difference in frequency of alleles of this mutation between hemorrhagic patients and ischemic stroke patients(all P>0.05). Conclusion T27796C mutation in CBS is not obviously correlated with stroke and this mutation is not associated with categories of stroke.
出处 《中国危重病急救医学》 CAS CSCD 2004年第3期161-164,共4页 Chinese Critical Care Medicine
基金 吉林省卫生厅医学科研基金资助项目 (2 0 0 0 0 3 8)
关键词 胱硫醚Β合成酶 基因多态性 脑卒中 cystathionine beta-synthase polymorphism stroke
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