脑血栓患者胱硫醚-β合成酶的基因多态性研究

Genetic polymorphisms of cystathionineβ synthase in patients with cerebral thrombosis

目的 :探讨同型半胱氨酸 (Hcy)代谢过程的关键酶之一胱硫醚 -β合成酶 (CBS)基因多态性与脑血栓的关系及其家族遗传性。方法 :采用限制性内切酶片段长度多态性方法检测患者 CBS基因T2 7796 C位碱基突变。结果 :病例组与对照组 CBS基因分布频率和等位基因频数分布差异无显著性(P>0 .0 5 ) ;一级亲属和对照组 CBS基因分布频率差异有显著性 (P<0 .0 5 ) ,C纯合型与对照组差异无显著性 (P>0 .0 5 ) ,杂合型差异有显著性 (P<0 .0 5 ) ,杂合型比纯合型患脑血管病的危险度高 3.2倍。结论 :不能排除 CBS基因 T2 7796

Objective:To study genetic polymorphisms of cystathonine β synthase (CBS) related to homocysteine metabolism in patients with cerebral thrombosis and the first degree family heredity.Methods:CBS genetic T27796C polymphism was determined by PCR RFLP.Results:There were no differences in the frequencies of genotypes and alleles between the cases and control groups ( P >0 05);there were significant differences in frequencies of genotypes between first degree family and control groups ( P <0 05).Heterogenetic type′s risk degree was 3.2 times the risk degree of homogenetic type.Conclusion:It did not exclude the possibility of that CBS′T 27796C location genetic mutation was mechanism of cerebral thrombosis.