血浆同型半胱氨酸及胱硫醚β合成酶多态性与脑血栓形成

目的探讨血浆同型半胱氨酸(Hcy)及胱硫醚β合成酶(CBS)基因多态性与脑血栓形成的关系.方法应用高效液相色谱-荧光法及扩增阻滞突变体系法测定87例急性脑血栓形成患者和80例对照者血浆Hcv浓度和CBS基因型.结果病例组平均空腹血浆Hcy浓度15.28 μmol/L(95%CI为14.37～16.19)较对照组11.32μmol/L(95%CI?0.47～12.16)高(P＜0.001).CBS两突变位点对血浆Hcy浓度的影响不一致.病例组和对照组基因型分布、纯合子频率和等位基因频率差异均无统计学意义.结论高Hcy血症与脑血栓形成发病有关.

Association of plasma homocysteine and cystathionine beta-synthase polymorphism with cerebral thrombosis]

OBJECTIVE: To study the association of plasma homocysteine (Hcy) and polymorphism and cystathionine beta-synthase (CBS) with cerebral thrombosis. METHODS: Eighty-seven patients with first-ever acute cerebral thrombosis and 80 control subjects were examined for plasma Hcy levels using high-performance liquid chromatography-fluorescence detection and for CBS polymorphism determined by amplification refractory mutation system. RESULTS: The fasting plasma Hcy level was l5.28 micromol/L (95% CI 14.37-16.19 micromol/L) in the patient group, higher than that in the control group (11.32 micromol/L, 95% C1 10.47-12.16 micromol/L, P<0.001). Plasma Hcy levels varied with different genotypes. No difference in genotype or allele frequencies was noted between patient group and control group (P>0.05). CONCLUSION: Common mutations in CBS G919A and CBS T833C lead to hyperhomocysteinemia, which, instead of common mutations in CBS, is more directly associated with increased risk of cerebral thrombosis.