胱硫醚β合酶基因突变及负荷后同型半胱氨酸水平与青年脑梗死

被引:8
作者
刘怀翔
张哲成
谈晓牧
刘建国
高海风
机构
[1] 天津医科大学第二医院神经内科
[2] 天津医科大学第二医院神经内科 天津
[3] 天津
基金
天津市自然科学基金;
关键词
胱硫醚β合酶; 蛋氨酸负荷试验; 脑梗死;
D O I
暂无
中图分类号
R743.32 [脑血栓形成];
学科分类号
1002 ;
摘要
目的 研究胱硫醚β合酶(CBS)基因T833C突变对蛋氨酸负荷试验(MLT)后血浆同型半胱氨酸(Hcy)水平的影响及其对青年脑梗死的致病作用。方法 采用高压液相色谱法测定血浆空腹同型半胱氨酸(Fhcy)及负荷后同型半胱氨酸(Phcy)水平,选取Fhcy水平正常的75例青年脑梗死患者和52例正常对照者。利用扩增阻滞突变体系法检测CBST833C基因型。结果 病例组Phcy水平和负荷前后Hcy水平的差值均高于对照组;病例组和其负荷后高同型半胱氨酸血症(PHhcy)组CBS基因C/C、C/T型和C等位基因频率分别高于对照组和病例组负荷后非高同型半胱氨酸血症(NPHhcy)组;病例组、对照组和PHhcy青年脑梗死患者组CBSC/C型者Phcy水平依次高于C/T型和T/T型者;NPHhcy青年脑梗死患者CBSC/C型者Phcy水平高于T/T型者,C/T型显著高于T/T型者。结论 CBST833C基因突变可能是Phcy水平异常升高的遗传原因,并间接导致青年脑梗死发生的重要遗传危险因素。
引用
收藏
页码:115 / 118
页数:4
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