南方医科大学学报 ›› 2005, Vol. 25 ›› Issue (03): 351-353.

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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

邵燕, 章成国, 崔金环   

  1. 佛山市第一人民医院神经内科, 广东, 佛山, 528000
  • 出版日期:2005-03-20 发布日期:2005-03-20
  • 基金资助:
    收稿日期:2004-8-10。
    基金项目:佛山市卫生局立项课题(2002027)
    作者简介:邵燕(1966- ),女,硕士,副主任医师,电话:0757-83833633-1816,E-mail:shaoyan2001@21cn.com

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

SHAO Yan, ZHANG Cheng-guo, CUI Jin-huan   

  1. 佛山市第一人民医院神经内科, 广东, 佛山, 528000
  • Online:2005-03-20 Published:2005-03-20

摘要: 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Hcy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11.32 μmol/L(95%CI为10.47~12.16)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。

Abstract: Objective To study the association of plasma homocysteine (Hcy) and polymorphism and cystathionine β-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 l5.28µmol/L (95% CI 14.37-16.19µmol/L) in the patient group, higher than that in the control group (11.32 μmol/L, 95% C1 10.47-12.16µmol/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.

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