河南汉族缺血性脑血管病患者胱硫醚β-合成酶基因T27796C多态性检测

Distribution of cystathionine β-synthase gene T27796C polymorphism in Henan Han population with ischemic cerebrovascular diseases

目的:探讨胱硫醚β-合成酶(CBS)基因T27796C多态性与河南汉族人群缺血性脑血管病的关系。方法:运用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对92例缺血性脑血管病患者(包括血栓性脑梗死、腔隙性脑梗死和短暂性脑缺血发作)及52例对照进行CBS基因T27796C多态性检测。结果:病例组CBS基因T27796CT/T、C/T和C/C基因型频率分别为29.3%、57.6%和13.0%,T和C等位基因频率分别为58.2%和41.8%,对照组T/T、C/T和C/C基因型频率分别为13.5%、61.5%和25.0%,T和C等位基因频率分别为44.2%和55.8%。2组CBS基因T27796CC/C基因型频率相比,差异有统计学意义(χ2=6.344,P=0.012);C等位基因频率相比,差异也有统计学意义(χ2=5.171,P=0.023)。结论:CBS基因T27796C突变可能与缺血性脑血管病有关。

Aim：To explore the relationship between cystathionine β-synthase（CBS） gene T27796C polymorphism and ischemic cerebrovascular diseases in Henan Han population.Methods：CBS gene T27796C polymorphism in 92 patients with ischemic cerebrovascular disease and 52 controls were detected using PCR-RFLP.Results：In patient group,the frequencies of CBS gene T27796C T/T,C/T and C/C genotypes were 29.3%,57.6% and 13.0%,and T and C allele frequencies were 58.2% and 41.8%,while in the control group,the frequencies of CBS gene T27796C T/T,C/T and C/C genotypes were 13.5%,61.5% and 25.0%,and T and C allele frequencies were 44.2% and 55.8%. There were significant differences in the frequencies of genotypes between the two groups （χ2=6.344,P=0.012）,and there were significant difference in the frequencies of C alleles genotypes between the two groups （χ2=5.171,P=0.023）.Conclusion：There may be a relationship between CBS gene T27796C mutation and ischemic cerebrovascular diseases.