缺血性心、脑血管疾病患者同型半胱氨酸代谢相关酶基因突变频度的研究

Study on homocysteine metabolism related enzymes gene mutations in Chinese patients with ischemic cardiovascular and cerebrovascular diseases

目的 确定胱硫醚 β 合成酶 (CBS)基因 844ins 6 8、甲硫氨酸合成酶 (MS)基因A2 75 6G、亚甲基四氢叶酸还原酶 (MTHFR)基因C6 77T三种同型半胱氨酸代谢相关酶基因突变在缺血性心、脑血管疾病发病中的意义。方法 PCR扩增 10 2例脑梗死 (BI)、73例心肌梗死 (MI)患者及 10 0名正常人的CBS、MS、MTHFR基因突变点 ,直接或经限制性内切酶消化后行聚丙烯酰胺凝胶电泳确定其基因型。结果 CBS 844ins 6 8和MSA2 75 6G的基因突变率较国外所报道者低 ;CBS 844ins 6 8、MSA2 75 6G和MTHFRC6 77T的各种基因型频率在患者组与正常对照组之间的差异无显著性 ;正常对照组CBS 844ins6 8杂合突变率较患者组有升高趋势。结论 CBS 844ins 6 8、MSA2 75 6G两种基因突变存在一定的人种或地域差异 ;CBS 844ins 6 8、MSA2 75 6G和MTHFRC6 77T突变可能不足以构成长沙地区汉族人缺血性心、脑血管疾病的独立遗传性危险因子。

Objective To explore the significance of gene mutations of cystathionine β synthase (CBS844ins68), methionine synthase (MS A2756G) and methylenetetrahydrofolate reductase (MTHFR C677T) in ischemic cardiovascular and cerebrovascular diseases. Methods The genotypes of CBS 844ins68, MS A2756G and MTHFR C677T were determined by PCR based assay in 102 patients with brain infarction, 73 with myocardial infarction and 100 healthy controls.Results The prevalences of CBS 844ins68 and MS A2756G in the cohort studied were somewhat lower than that in western Caucasian populations. There were no siganificant differcences in the frequencies of CBS 844ins 68, MS A2756G and MTHFR C677T mutations between the patient the and control groups. However, the heterozygous form of CBS 844ins 68 tended to be more prevalent in the controls than in the patients. Conclusion Gene mutations as CBS 844ins 68, MS A2756G and MTHFR C677T may not be independent risk factors for ischemic cardiovascular and cerebrovascular disease in Southern Chinese Han population. The prevalences of CBS 844ins 68 and MS A2756G may vary with different ethnic groups or geographic regions.