冠心病患者MBL基因启动子区多态性

Polymorphism in promoter region of MBL gene in patients with coronary heart disease

目的研究冠心病患者甘露聚糖结合凝集素(MBL)基因启动子区-550和-221位点的多态性,探讨冠心病的可能发病机制。方法提取72例冠心病患者(A组)和57例健康对照人群(C组)外周血基因DNA,采用限制性片段长度多态性分析(PCR-RFLP)法检测MBL基因启动子区-550(H/L)和-221(X/Y)位点的多态性,并行非变性的聚丙烯酰胺凝胶电泳对这2个位点的多态性进行分析。结果 A组MBL基因启动子区-550位点基因型H/L、H/H和L/L分别占2.78%、95.83%和1.39%;C组未检测出H/L和L/L基因型,H/H基因型频率为100%;A组和C组在-550位点H/L、H/H和L/L基因型频率比较差异均无统计学意义(P>0.05)。结论 MBL基因启动子区-221位点多态性可能与冠心病的发生、发展有关;而-550位点的多态性与冠心病的发生、发展可能不存在相关性。

Objective To investigate the polymorphism in promoter regions at -550 and 221 sites of mannan binding lectin（MBL） gene in patients with coronary heart disease（CHD） and analyze the underlying mechanism of CHD. Methods DNA was extracted from peripheral blood in 72 CHD cases （group A） and 57 healthy people（group C）. The polymorphisms in promoter regions at -550 （H/L） and 221 （X/Y） sites of MBL gene were detected by PCR-RFLP and anlyzed by polyacrylamidc gel. Results The genotype frequencies of H/L,H/H and L/L in -550 site in group A were 2.78%, 95.83% and 1.39%, respectively. H/L and L/L genotypes were not found in group C, but the genotype frequency of H/H was 100%. There were no significant differences in genotype frequencies of H/L, H/H and L/L in -550 site between groups of A and C （P〉0. 05）. Conclusion The polyrnorphism in promoter region at -221 site of MBL gene may participate in the generation and development of CHD,while the polymorphism at -550 site may not be related with CHD.