摘要:
目的:研究血小板内皮细胞黏附因子-1(PECAM-1)基因373C/G及1688A/G基因多态性及其与川崎病(KD)发病、并发冠状动脉损伤(CAL)之间的关联.方法:应用聚合酶链反应——限制性片断多态性分析(PCR-RFLP)技术结合琼脂糖凝胶电泳技术,检测44例川崎病患儿(川崎病组)和59例正常对照组儿童PECAM-1基因373C/G及1688A/G的基因型和等位基因分布.结果:①川崎病组PECAM-1基因373 C/G的等位基因频率与正常对照组比较差异无统计学意义(x2=1.11,P>0.05),CC、GG、CG基因型分布与正常对照组比较差异有统计学意义(x2=8.49,P<0.05),川崎病组中并CAL者与无CAL者基因型分布频率和等位基因频率比较差异亦无统计学意义(x2=5.19、1.004,P均>0.05);②川崎病组PECAM-1基因1688A/G的等位基因频率及AA、GG、AG基因型分布与正常对照组比较差异无统计学意义(x2=0.04、0.24,P均>0.05),川崎病组中并CAL者与无CAL者基因型分布频率和等位基因频率比较差异亦无统计学意义(x2=0.376、0.0004,P均>0.05).结论:PECAM-1基因373C/G在川崎病中基因型构成存在差异,但与CAL的发生无明显相关性.PECAM-1基因1688A/G与川崎病及其CAL的发生均无明显相关性.%Objective:To investigate the relationship between platelet endothelial cell adhesion molecule-1 (PECAM-1) gene polymorphisms at loci 373 C/G,1688 A/G and the risk of Kawasaki disease (KD) complicated by coronary artery lesions (CAL) in pediatric patients.Methods:Our research included 2 groups,KD group,n=44 pediatric patients and Control group,n=59 healthy children.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was conducted to examine and compare the polymorphism of PECAM-1 gene at loci 373 C/G and 1688 A/G in both groups.Results:① There was no real differences between KD group and Control group for allele frequencies at locus 373 C/ G (x2=1.11,P>0.05) polymorphism of PECAM-1 gene.While the genotype frequencies of CC,GG and CG were different between KD group and Control group (x2=8.49,P<0.05).In KD group,the genotype frequency and allele frequency were similar between the patients with or without CAL (x2=5.19,1.004,P>0.05 respectively).② There were no real differences between KD group and Control group for allele frequencies at locus 1688 A/G polymorphism,and for genotype frequencies of AA,GG,AG (x2=0.04,0.24,P>0.05 respectively).In KD group,the genotype frequency and allele frequency were similar between the patients with or without CAL (x2=0.376,0.0004,P>0.05 respectively).Conclusion:PECAM-1 gene polymorphism at locus 373 C/G is different in KD children,while it is not related to CAL occurrence.The polymorphism at locus 1688A/G was not related to KD incidence.