冠心病患者胱硫醚β-合酶基因G919A和C572T突变频率

Mutation frequency of cystathionine β-synthase gene G919A and C572T in patients with coronary heart disease

目的:初步探讨胱硫醚β-合酶(CBS)基因G919A和C572T位点突变与冠心病(CHD)的关系.方法:采用等位基因特异性扩增(ASA)技术对广西64例CHD患者和健康30例健康者进行CBS基因G919A和C572T的检测.结果:CBS基因G919A两组间基因型以及A等位基因频率分布差异均有统计学意义(P<0.01).CBS基因C572T两组间基因型以及T等位基因频率分布差异均无统计学意义(P>0.05).但G919A和C572T复合基因型G/A+C/T型与对照组比较差异有统计学意义(P<0.01).结论:提示CBSG919A突变与广西CHD有重要相关性,而C572T与CHD无明显相关性.

AIM： To study the relation of cystathionine β- synthase （CBS） G919A and C572T gene mutations with coronary heart disease （CHD）. METHODS： Sixty-four CHD patients and thirty healthy subjects from Guangxi were recruited. CBS G919A and C572T genotypes were analyzed by Allele-specific amplification（ASA）. RESULTS： Significant differences in the genotype and A alleles frequency distribution of CBS G919A between the two groups were observed （ P 〈 0.01 ）. No significant difference in the genotype and T alleles frequency distribution of CBS C572T between the two groups were observed （ P 〉 0.05 ）. But there were significant differences in the compound genotype of G919A and C572T between the two groups （P 〈 0. 01 ）. CONCLUSION： CBS G919A may be an important risk factor for CHD in Guangxi. CBS C572T may not be an independent risk factor for CHD in Guangxi.