[1]邵燕,章成国,崔金环.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[J].南方医科大学学报,2005,(03):351-353.
 SHAO Yan,ZHANG Cheng-guo,CUI Jin-huan.Association of plasma homocysteine and cystathionine β-synthase polymorphism with cerebral thrombosis[J].Journal of Southern Medical University,2005,(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()
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《南方医科大学学报》[ISSN:1673-4254/CN:44-1627/R]

卷:
期数:
2005年03期
页码:
351-353
栏目:
出版日期:
2005-03-01

文章信息/Info

Title:
Association of plasma homocysteine and cystathionine β-synthase polymorphism with cerebral thrombosis
作者:
邵燕 章成国 崔金环
佛山市第一人民医院神经内科, 广东, 佛山, 528000
Author(s):
SHAO Yan ZHANG Cheng-guo CUI Jin-huan
Department of Neurology, First People’s Hospital of Foshan City, Foshan 528000, China
关键词:
同型半胱氨酸胱硫醚β合成酶基因多态性脑血栓形成
Keywords:
homocysteinecystathionine-β-synthasepolymorphismcerebral thrombosis
分类号:
R74.2
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 l5.28?mol/L (95% CI 14.37-16.19?mol/L) in the patient group, higher than that in the control group (11.32 μmol/L, 95% C1 10.47-12.16?mol/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.

参考文献/References:

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备注/Memo

备注/Memo:
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
更新日期/Last Update: 1900-01-01