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。
Objective To study the effect of cystathionime β synthase(CBS) T883C gene mutation to the plasma homocystine(Hcy) level after methionine loading test(MLT) in young patients with cerebral infarction. Methods The empty plasma homocystine(Fhcy) and homocystine after MLT(Phcy) level were measured with high performance liquid chromatography. 75 young patients with cerebral infarction and 52 normal controls, both with normal Fhcy level, were selected for CBS T833c genetype for analysis with amplification refractory mutation system. Results The Phcy level and hcy level before and after loading in patients were higher than those in the controls. The frequencies of CBS gene C/C、C/T genetype and C alleles in the patients and the cases with Hyperhomcysteinemia after MLT(PHhcy) were significantly higher than controls and those without Hyperhomcysteinemia after MLT(NPHhcy) respectively. The Phcy level of CBS C/C genetype was higher, in turn than C/T and T/T genetype in patients, controls and the young patients with cerebral infarction and PHhcy. The Phcy level in CBS C/C and C/T genetyps was higher than that in T/T type, in the NPHhcy of the young patients with cerebral infarction. Conclusions Beside circumstance and nutrition, CBS T833C gene mutation may be the inherited reason of Phcy level abnormal elevation and indirect cause of cerebral infarction in young patients.
出处
《中国神经精神疾病杂志》
CAS
CSCD
北大核心
2005年第2期115-118,共4页
Chinese Journal of Nervous and Mental Diseases
基金
天津市自然科学基金 (编号 :0 0 360 641 1 )
关键词
胱硫醚Β合酶
蛋氨酸负荷试验
脑梗死
Cystathionine β synthase Methionine loading test Cerebral infarction
