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目的寻找趋化素样因子(CKLF)基因上游启动子区的单核苷酸多态性(SNP),明确其与支气管哮喘发病的相关性。方法提取245例北京地区汉族人(其中哮喘患者119例,健康对照126例)基因组DNA,采用PCR方法扩增CKLF上游启动子区1553碱基的DNA片段并进行直接测序,分析发现的SNPs的等位基因频率、基因型频率和单倍型分布频率及其与哮喘的发病和临床表现的相关性。结果在CKLF上游启动子区共发现4个SNPs:SNP88(T>C)、SNP196(T>C)、SNP568(C>G)、SNP1047(C>G)。其等位基因频率分别为0.168(SNP88C)、0.168(SNP196C)、0.352(SNP568G)和0.167(SNP1047G),与以往报道的其他种族的结果明显不同。SNP88与SNP196之间、SNP88与SNP1047之间,以及SNP196与SNP1047之间存在完全连锁不平衡(D′=1.000,r2=1.000),SNP568与SNP88、SNP196及SNP1047间存在连锁不平衡(r2=0.366)。哮喘组与对照组4个SNPs的等位基因频率、基因型频率和单倍型频率差异无显著性。结论北京地区汉族人群CKLF编码基因上游调控区的基因多态性有其独特的分布特点及连锁不平衡特征,虽然与哮喘的发病无明显相关性,但其分布特点可能为其他疾病相关性研究提供有价值的资料。
Objective To find single nucleotide polymorphisms (SNPs) in the promoter region of the chemokine-like factor (CKLF) gene and clarify its association with the pathogenesis of bronchial asthma. Methods A total of 245 Chinese Han population (119 cases of asthma and 126 healthy controls) were genomic DNA extracted from Beijing region. The 1553-base DNA fragment in the upstream of CKLF was amplified by PCR and sequenced. The SNPs Gene frequency, genotype frequency and haplotype distribution frequency and their correlation with the incidence and clinical manifestations of asthma. Results Four SNPs were found in the promoter region of CKLF: SNP88 (T> C), SNP196 (T> C), SNP568 (C> G) and SNP1047 (C> G). The allele frequencies were 0.168 (SNP88C), 0.168 (SNP196C), 0.352 (SNP568G) and 0.167 (SNP1047G), respectively, which were significantly different from those reported in other races. There was a complete linkage disequilibrium between SNP88 and SNP196, between SNP88 and SNP1047, and between SNP196 and SNP1047 (D ’= 1.000, r2 = 1.000) and between SNP568 and SNP88, SNP196 and SNP1047 (r2 = 0.366 ). Allele frequency, genotype frequency and haplotype frequency of four SNPs in asthma group and control group were not significantly different. Conclusion The polymorphisms of the upstream regulatory region of CKLF-encoding genes in Beijing Han population have their unique distribution characteristics and linkage disequilibrium. Although they are not significantly associated with the pathogenesis of asthma, their distribution may be provided for other disease-related studies Valuable information.