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白介素-1β基因-31T/C和+3953C/T位点多态性与川崎病遗传易感性的关系探讨

发布时间:2024-03-24 17:04
  目的 有关细胞因子的基因多态性与川崎病易感性之间的关系仍未明了,因此本研究的目的是探讨白细胞介素-1p基因启动子位点的多态性的关联-31T/C和第5外显子基因+3953C/T与川崎病遗(KD)传易感性之间的关系,及与川崎病并发冠脉损伤风险间的关系。 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)方法结合琼脂糖凝胶电泳技术,对63例川崎病儿童和100名健康对照儿童进行IL-1p基因+3953C/T位点及-31T/C位点的多态性分析。 结果 (1)KD组IL-1β基因启动子-31T/C位点多态性的CC、CT、TT基因型分布频率和C、T等位基因频率与正常对照组比较差异无显著性(χ2=5.294、1.332,P均>0.05)。KD组IL-1p基因第5外显子+3953C/T位点多态性的CC、CT、TT基因型分布频率和C、T等位基因频率与正常对照组比较差异无显著性(χ2=1.925、1.908,P均>0.05)。(2)KD组IL-1β基因启动子-31T/C位点多态性的CC、CT、TT基因型分布频率和C、T等位基因频率在并发冠脉损伤和无冠脉损伤之间差异均无显著...

【文章页数】:49 页

【学位级别】:硕士

【文章目录】:
摘要 Abstract 目录 Abbreviations Introduction 1 Subjects and methods
1.1 Materials
    1.1.1 Main reagents:see Table 1-1
    1.1.2 Instruments and manufactures:see Table 1-2
    1.1.3 Study population
1.2 Experimental methods
    1.2.1 Collection and processing of blood samples
    1.2.2 DNA extraction
    1.2.3 Principle and procedure
    1.2.4 SNP Genotyping
    1.2.5 SNP Genotyping for IL-1β polymorphisms
1.3 Statistical analysis 2 Results
2.1 Subjects completion
    2.1.1 Clinical characteristics of KD subjects:Table 2-1
2.2 PCR amplification results of IL-1β-31T/C and +3953C/T
2.3 IL-1β-31 T→C promoter polymorphism
2.4 IL-1β+3953 C→T promoter polymorphism
2.5 Hardy -Weinberg equilibrium testing
2.6 Genotypic and allelic frequencies of IL-1β-31 T→C promoter polymorphism
2.7 Genotypic and allelic frequencies of IL-1β+3953 C→T promoter
2.8 Association between Kawasaki disease patients with and without coronaryartery lesions (CAL)
    2.8.1 Genotypic and Allelic frequencies of the IL-1β-31 T→C polymorphism andCAL
    2.8.2 Genotypic and Allelic frequencies of the IL-1β+3953 C→T polymorphismand CAL 3 Discussion
3.1 Studies compatible with our results
3.2 Studies not in agreement with our results
3.3 Genome-Wide Linkage Study of KD
3.4 Study Limitation 4 Conclusion References Review
References Published work Acknowledgment



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