皮肤粘膜淋巴结综合征患儿PECAM-1基因373及1688位点基因多态性研究

发布时间：2018-03-30 11:47

本文选题：血小板内皮细胞黏附因子-1基因　切入点：基因多态性　出处：《中南大学》2011年硕士论文

【摘要】：目的：研究血小板内皮细胞黏附因子(PECAM-1)基因373位点及1688位点基因多态性与皮肤粘膜淋巴结综合征(MCLS)发病及并发冠状动脉损伤(CAL)之间的关联。方法：应用聚合酶链反应-限制性内切酶片断长度多态性分析(PCR-RFLP)技术结合琼脂糖凝胶电泳技术,检测44例皮肤粘膜淋巴结综合征患儿和59例正常对照组儿童PECAM-1基因373及1688多态性位点的基因型和等位基因分布。结果：(1) MCLS组PECAM-1基因373多态性位点的C、G等位基因频率与正常对照组比较差异无显著性意义(χ2=1.11, P0.05); 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,P0.05),MCLS组中合并CAL组与无CAL组基因型分布频率和等位基因频率比较差异亦无显著性意义(χ2=5.19.0.84,P0.05); (2) MCLS组PECAM-1基因1688多态性位点的A、G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显著性意义(χ2=0.04、0.24, P0.05), KD组中合并CAL组与无CAL组基因型分布频率和等位基因频率比较差异亦无显著性意义(χ2=0.376、0.0004,P＞0.05)。结论：(1) PECAM-1基因373多态性位点在MCLS中基因型构成中存在差异,但与CAL的发生无明显关联。而PECAM-1基因373多态性位点等位基因频率与MCLS及CAL的发生可能无明显关联性。(2) PECAM-1基因1688多态性位点的基因型和等位基因频率可能与MCLS及其CAL的发生均无明显关联。
[Abstract]:Aim: to investigate the association between polymorphism of platelet endothelial cell adhesion factor PECAM-1 gene at locus 373 and locus 1688 and pathogenesis of cutaneous and mucosal lymph node syndrome (MCLS) and coronary artery injury (CAL). Methods: polymerase chain reaction-restriction endonuclease fragment length polymorphism (PCR-RFLP) technique combined with agarose gel electrophoresis was used. The genotypes and alleles of polymorphic loci of PECAM-1 gene 373 and 1688 in 44 children with cutaneous and mucosal lymph node syndrome and 59 normal controls were detected. Results the allele frequency of PECAM-1 gene 373 polymorphism locus in MCLS group was not significantly different from that in normal control group (蠂 2 / 1. 11, P 0. 05) and the genotype distribution of CCG GGG gene in MCLS group was significantly different from that in normal control group (蠂 2 + 8. 49% P 0. 05% P 0. 05%) (蠂 2 / 8. 49%, P 0. 05%, P 0. 05%, P < 0. 05). There was no significant difference in genotype distribution frequency and allelic frequency between MCLS group and MCLS group (蠂 ~ 2 = 5.19.0.84, P 0.05; n = 2). There was no significant difference in the allele frequency of PECAM-1 gene 1688 polymorphism locus and genotype distribution between MCLS group and normal control group. There was no significant difference in genotype distribution frequency and allele frequency between CAL group and no CAL group (蠂 2 + 0. 374, P > 0. 05, P > 0. 05), and there was no significant difference in genotype distribution and allele frequency between KD group and CAL group (蠂 2: 0. 374, P > 0. 05). Conclusion there are differences in genotype composition of PECAM-1 gene 373 polymorphism in MCLS. However, there was no significant correlation between the allele frequency of PECAM-1 gene 373 polymorphism and the occurrence of MCLS and CAL. The genotype and allele frequency of 1688 polymorphism locus of PECAM-1 gene may be related to MCLS and CAL. There was no significant correlation between the occurrence of CAL.
【学位授予单位】：中南大学
【学位级别】：硕士
【学位授予年份】：2011
【分类号】：R758.6

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