摘要
目的:探讨同型半胱氨酸(Hcy)代谢相关酶胱硫醚β-合酶(CBS)基因突变对中青年脑梗死的致病作用。方法:采用扩增阻滞突变体系法(PCR-ARMS)技术分别检测85例中青年脑梗死患者(患者组)和44例正常对照者(对照组)CBST833C的基因型,利用高压液相色谱法测定其血浆总同型半胱氨酸(tHcy)水平。结果:患者组CBS纯和突变型(C/C)、杂和型(C/T)和C等位基因型频率分别为18.8%、44.7%和41.2%,显著高于对照组的4.5%、22.7%和15.9%(P<0.01)。患者组血浆tHcy均值为23.14μmol/L,对照组仅为13.49μmol/L,患者组高同型半胱氨酸血症(HHC)32例,对照组为2例,2组差别有统计学意义。2组C/C型血浆tHcy水平高于C/T型和T/T型者。结论:CBST833C基因突变可能是引起HHC间接导致中青年脑梗死的重要遗传因素。
Objective: To study the effects of gene mutations of cystathionine β-synthase(CBS) on cerebral infarction in young and adult. Methods: CBS T833C genotype of 85 patients with cerebral infarction and 44 normal controls were analyzed by PCR-ARMS technologies, and the plasma total homocystine levels were measured by high performance liquid chromatography methods. Results: The frequencies of C/C, C/T genotypes and C alleles in experimental group(18.8%, 44.7% and 41.2% respectively) were obviously higher than those in control group(4.5%, 22.7% and 15.9% respectively, P < 0.01).The mean plasma homocystine level was 23.14 μmol/L in experimental group, and only 13.49 μmol/L in controls.There were 32 hyperhomocysteinemia (HHC) patients in experimental group, and 2 cases in controls. There was a statistical significance in two groups. the plasma homocystine levels of C/C genotype in two groups were higher than those of C/T and T/T genotype. Conclusion: Genetic mutations of CBS, the important indirectly genetic risk facters in cerebral infarction, are possibly the HHC in young and adult.
出处
《天津医药》
CAS
北大核心
2005年第2期68-70,共3页
Tianjin Medical Journal
基金
天津市自然科学基金资助项目(项目编号:003606411)
