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皮膚粘膜淋巴結(jié)綜合征患兒PECAM-1基因373及1688位點基因多態(tài)性研究

發(fā)布時間:2018-03-30 11:47

  本文選題:血小板內(nèi)皮細胞黏附因子-1基因 切入點:基因多態(tài)性 出處:《中南大學》2011年碩士論文


【摘要】:目的:研究血小板內(nèi)皮細胞黏附因子(PECAM-1)基因373位點及1688位點基因多態(tài)性與皮膚粘膜淋巴結(jié)綜合征(MCLS)發(fā)病及并發(fā)冠狀動脈損傷(CAL)之間的關(guān)聯(lián)。 方法:應用聚合酶鏈反應-限制性內(nèi)切酶片斷長度多態(tài)性分析(PCR-RFLP)技術(shù)結(jié)合瓊脂糖凝膠電泳技術(shù),檢測44例皮膚粘膜淋巴結(jié)綜合征患兒和59例正常對照組兒童PECAM-1基因373及1688多態(tài)性位點的基因型和等位基因分布。 結(jié)果:(1) MCLS組PECAM-1基因373多態(tài)性位點的C、G等位基因頻率與正常對照組比較差異無顯著性意義(χ2=1.11, P0.05); CC、GG、CG基因型分布與正常對照組比較差異有統(tǒng)計學意義(χ2=8.49,P0.05),MCLS組中合并CAL組與無CAL組基因型分布頻率和等位基因頻率比較差異亦無顯著性意義(χ2=5.19.0.84,P0.05); (2) MCLS組PECAM-1基因1688多態(tài)性位點的A、G等位基因頻率及AA、GG、AG基因型分布與正常對照組比較差異無顯著性意義(χ2=0.04、0.24, P0.05), KD組中合并CAL組與無CAL組基因型分布頻率和等位基因頻率比較差異亦無顯著性意義(χ2=0.376、0.0004,P>0.05)。 結(jié)論:(1) PECAM-1基因373多態(tài)性位點在MCLS中基因型構(gòu)成中存在差異,但與CAL的發(fā)生無明顯關(guān)聯(lián)。而PECAM-1基因373多態(tài)性位點等位基因頻率與MCLS及CAL的發(fā)生可能無明顯關(guān)聯(lián)性。(2) PECAM-1基因1688多態(tài)性位點的基因型和等位基因頻率可能與MCLS及其CAL的發(fā)生均無明顯關(guān)聯(lián)。
[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.
【學位授予單位】:中南大學
【學位級別】:碩士
【學位授予年份】:2011
【分類號】:R758.6

【參考文獻】

相關(guān)期刊論文 前1條

1 楊穎;程龍獻;Ripen Nsenga;何美安;常智堂;鄔堂春;;Association of G+1688A Polymorphism of Platelet Endothelial Cell Adhesion Molecule-1 Gene with Myocardial Infarction in the Chinese Han Population[J];Journal of Huazhong University of Science and Technology(Medical Sciences);2007年05期



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