【作者】 陈爽；

【导师】 张庆镐；

【作者基本信息】 延边大学 ， 免疫学， 2010， 硕士

【摘要】 目的：利用病例-对照方法探讨研究IL-27p28基因启动子区g.-964A>G,第二外显子区g.2905T>G位点多态性与中国东北汉族人哮喘之间的相关性。方法：通过病例-对照研究,选择病例组和对照组,抽取研究对象的血液标本,基因分型采用基因测序法对SNP位点进行测序,记录每个样本的基因型,计算各位点在哮喘组和对照组中的基因型频率及等位基因频率。Hardy-Weinberg平衡吻合度检验：根据平衡吻合度定律采用Fisher’s Exact Test检验计算各多态位点在哮喘组和对照组的预期基因型频率,以比较所观察到的基因型频率和预期的基因型频率之间的差异。确定所选哮喘组和对照组是否可以代表东北汉族群体。基因型与等位基因分布差异检测：运用SPSS17.0软件采用卡方检验比较各多态位点在哮喘组与对照组的基因型与等位基因频率差异,检验多态位点与哮喘的相关性。结果：IL-27p28基因多态位点g.-964A>G采用其互补链进行检测即-964T>C,在哮喘组和对照组显示三种基因型,分别是：T/T、T/C、C/C基因型。基因型频率在哮喘组分别为：0.524、0.238、0.238；在对照组分别为：0.486、0.423、0.091；等位基因T和C的分布频率在哮喘组分别：0.643、0.357;在对照组分别为：0.698、0.302,经x2检验p=0.082、0.477。IL-27p28基因多态位点g.2905T>G,在哮喘组基因型显示为：T/T、T/G基因型,基因型频率分别为：0.833、0.167;在对照组中显示为T/T、T/G、G/G三种基因型,分别为：0.838、0.152、0.010；等位基因T和G的分布频率在哮喘组分别为：0.917、0.083,在对照组分别为：0.914、0.086,经x2检验p=0.880、1.000。结论：IL-27p28基因多态位点-964A>G、2905T>G在中国东北汉族人群中与哮喘无显著相关,但不排除该基因内的其它多态位点与哮喘易感性相关。更多还原

【Abstract】 Objective:To detect the relationship of IL-27p28 gene polymorphisms in promoter region g.-964A>G and the second exon g.2905T>G with the susceptibility to asthma in northeastern China population. Methods:111 healthy controls were recruited from the general population who took a comprehensive medical examination at northeast region, and asthma patients were recruited from the northeast. Genomic DNA were extracted from the whole blood using the methods of small dosage with DNA extraction reagents. IL27p28 gene was amplified from genomic DNA by polymerase chain reaction method. Then, the fragments containing g.-964A>G, and g.2905T>G were directly sequenced, and the genotypes of these two sites were recorded. The cases and controls were compared by case-control association analysis. Fisher’s Exact Test was used to detect deviation from Hardy-Weinberg equilibrium. Genotype and allele frequencies were compared between healthy controls and asthma patients by chi-square test. Results:All genetic variants were in Hardy-Weinberg equilibrium. A/A, A/G, G/G genotypes were detected in g.-964 locus and the genotype frequencies in asthma patients showed: A/A, A/G, G/G was 0.524,0.238,0.238 respectively, in healthy control were 0.486> 0.423、0.091 respectively. Allele frequencies showed:A was 0.643, G was 0.357 in asthma patients,0.698 and 0.302 in healthy control, p value was 0.082 and 0.477 by chi square examination.T/T、T/G、G/G genotypes were detected in 2905T>G locus in healthy controls, but in asthma patients only T/T、T/G genotypes. The genotype frequencies in asthma patients showed:T/T、T/G、G/G was 0.833,0.167,0 respectively, in healthy control were 0.838、0.152、0.010 respectively. Allele frequencies showed:T was 0.917, G was 0.083 in asthma patients,0.914 and 0.086 in healthy control. p value was 0.880 and 0.477 by chi square examination. Conclusion:IL-27p28 gene polymorphisms-964A>G,2905T>A might not be associated with asthma susceptibility in Northeastern Chinese Han population, but does not rule out the possibility that other genes within the polymorphic sites associated with asthma.更多还原