【摘要】 目的探讨ORMDL3基因多态性位点与乌鲁木齐地区维吾尔族人群支气管哮喘(简称哮喘)的风险关系。方法采用多重单碱基延伸单核苷酸多态性(single nucleotide polymorphism,SNP)分型技术(SNa Pshot)对93例维吾尔族哮喘患者及100例体检健康者ORMDL3基因10个SNP位点进行分型,并比较不同基因型和等位基因与维吾尔族哮喘发病的风险关系。结果健康人与哮喘患者ORMDL3基因rs7216389、rs12603332位点的基因型与等位基因频率差异均有统计学意义(P<0.05)。ORMDL3基因的SNP位点的检测数据均符合Hardy-Weiberg定律(P> 0.05)。结论 ORMDL3基因多态性与维吾尔族哮喘患者发病有直接的风险关系,且ORMDL3基因ss7216389和rs12603332位点可能是维吾尔族人群支气管哮喘的易感位点。更多还原

【Abstract】 Objective To investigate the association of ORMDL3 gene polymorphism with the risk of bronchial asthma of Uygur people in Urumqi region.Methods Ten single nucleotide polymorphism(SNP) loci of ORMDL3 gene in 93 Uygur patients with bronchial asthma and 100 healthy controls were genotyped by the multiplex SNP(SNa Pshot) technique,and the association of different genotypes and alleles with the risk of asthma of Uygur people was analyzed.Results There were significant differences in genotype and allele frequencies of rs7216389 and rs12603332 loci of ORMDL3 gene between asthma patients and healthy controls(P<0.05).The detection data of SNP loci of ORMDL3 gene were all in accordance with Hardy-Weiberg law(P>0.05).Conclusion The polymorphism of ORMDL3 gene is directly associated with the risk of asthma in Uygur people,and the rs7216389 and rs12603332 loci of ORMDL3 gene may be the susceptible sites of bronchial asthma in Uygur people.更多还原