胱硫醚-β-合成酶基因突变与有家族聚集现象脑血管病关系探讨

目的:探讨胱硫醚-β-合成酶(CBS)基因突变与有家族聚集现象脑血管病的关系,从而探讨不同群体对脑血管病的易感性的差异。方法:采用聚合酶链式反应-单链构象多态性分析法(PCR—SSCP)分析25个有家族聚集现象的脑血管病家系成员CBS基因C699T、C1080T突变;扩增阻滞突变系统分析法(AMRS)分析CBS基因T833C突变。结果:①、脑血管病组(包括有家族聚集现象的脑血管病组)的CBS基因C699T突变频率均高于对照组。②、有家族聚集现象的脑血管病组的CBS基因T833C突变频率较散发性脑血管病组有增高的趋势,有家族聚集现象的脑梗死组中患者和Ⅰ级亲属的CBS基因T833C突变频率高于Ⅱ、Ⅲ级亲属;脑血管病组(包括有家族聚集现象的脑血管病组)的CBS基因T833C突变频率均高于对照组。③、有家族聚集现象的脑血管病组的CBS基因C1080T突变频率高于散发性脑血管病组,有家族聚集现象的脑血管病组中患者和Ⅰ级亲属的CBS基因C1080T突变频率高于Ⅱ＼Ⅲ级亲属;脑血管病组(包括有家族聚集现象的脑血管病组)的CBS基因C1080T突变频率均高于对照组。结论:有家族聚集现象的脑血管病可能与CBSC699T、CBSC1080T、CBST833C基因突变有关。

Relationship between gene mutation of cystathionine beta-synthase and cerebrovascular disease with familial history

Objectivs: To study the relationship between gene mutation of CBS and CVD to explore the difference of phenotype and susceptibility in different colonies. Methods: The cases were chosen from the patients and their family members . The gene mutation of CBS C699T, CBS C1080T were detected by the method of polymerase chain reaction and single strand conformation polymorphism(PCR- SSCP). The gene mutation of CBS T833C were determined by the method of amplification refractory mutation system(AMRS). Results: 1, Mutation frequency of CBS T833C in group of CVD (included CVD with familial history) was higher than that in control group. The tendency of mutation frequency of CBS T833C in patients with CVD familial history was higher than that of in sporadic CVD. Mutation frequency of CBS T833C in first -degree relatives of group with CVD familial history was higher than that in second , third-degree relatives of group of CVD with familial history. 2, Mutation frequency of CBS C699T in group of CVD (included CVD with familial history) was higher than that in control group. 3, Mutation frequency of CBS C1080T in group of CVD (included CVD with familial history) was higher than that in control group. Mutation frequency of CBS C1080T in patients with familial history was higher than that in sporadic CVD group. Mutation frequency of CBS C1080T in patients and first -degree relatives of group was higher than that in second , third -degree relatives of group of CVD with familial history. Conclusions: CVD family history might correlate with mutation of CBS T833C, CBS C1080T.