川崎病患儿血小板内皮细胞黏附因子-1基因373位点及1688位点基因多态性研究  

Gene Polymorphism Study for Platelet Endothelial Cell Adhesion Molecule-1 Gene at Loci 373 and 1688 in Children With Kawasaki Disease

作　　者：李卓颖[1] 韩冬[1] 江杰[1] 陈志衡[1] 陈佳[1] 田朗[1] 黄利华[1] 杨作成[1] 

机构地区：[1]中南大学湘雅三医院儿科,湖南省长沙市410013

出　　处：《中国循环杂志》2013年第4期285-288,共4页Chinese Circulation Journal

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(χ2=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(χ2=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(χ2=5.19、1.004,P均>0.05);②川崎病组PECAM-1基因1688 A/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(χ2=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(χ2=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-I （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 （ X 2=1.11,/9〉0-05） polymorphism of PECAM-1 gene. While the genotype frequencies of CC, GG and CG were different between KD group and Control group （ X 2=8-49, P〈0.05）. In KD group, the genotype frequency and allele frequency were similar between the patients with or without CAL （X 2=5.19, 1.004,/〉〉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 （ X 2=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 （ X 2=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.

关 键 词：血小板内皮细胞黏附因子-1基因 基因多态性 皮肤粘膜淋巴结综合征 儿童 

分 类 号：R722.12[医药卫生—儿科]