Objective To investigate the distribution of D2S388 and D2S2232 length polymorphism of microsatellite loci in normal population and chronic obstructive pulmonary disease (COPD) smokers in Xinjiang Uygur ethnic group,and to study whether such polymorphism is associated with susceptibility to COPD. Methods Genomic DNA was extracted from peripheral blood of 118 COPD smokers and 110 healthy smokers (as controls) of Xinjiang Uygur ethnic group who were admitted or registered to Departments of Respiratory Medicine in First Affiliated Hospital of Shihezi University School of Medicine ,People's Hospital of Xinjiang Uygur Autonomous Region,Xinjiang Aksu Agriculture No. 1 Division Hospital, and First People's Hospital of Kashgar Region Xinjiang,between March 2009 and September 2009. Polymorphisms of D2S388 and D2S2232 microsatellite loci were determined by multiple short tandem repeat (STR) amplification using fluorescence labeling polymerase chain reaction (PCR) combined with capillary electrophoresis. Results Nine alleles and 26 genotypes were found in D2S388,and nine alleles and 24 genotypes in D2S2232. The distributions of both genotypes in healthy smokers were consistent with Hardy-Weinberg equilibrium. Compared with healthy controls, the COPD group showed significantly higher frequency of 254 bp D2S388 allele ( P ＜ 0. 05 ) and lower frequency of 204 bp D2S2232 allele ( P ＜0.05). Conclusion D2S388 and D2S2232 microsatellite polymorphisms may be associated with susceptibility to COPD in Xinjiang Uygur ethnic group.%目的 研究D2S388、D2S2232微卫星多态性在新疆维吾尔族正常人群及慢性阻塞性肺疾病(COPD)患者中的分布并探讨D2S388、D2S2232微卫星多态性与新疆维吾尔族COPD易感性关系.方法 提取石河子大学医学院第一附属医院呼吸科、新疆维吾尔族自治区人民医院呼吸科、新疆阿克苏农一师医院呼吸科及新疆喀什地区第一人民医院呼吸科2009年3月至2010年9月住院的维吾尔族吸烟COPD患者118例和吸烟健康体检者110名(时照组)外周血基因组DNA.采用荧光标记的多重聚合酶链式反应扩增短串联重复序列(STR-PCR)结合毛细管电泳检测方法检测D2S388,D2S2232多态性.结果 D2S388位点共检测到9种等位基因和26种基因型,D2S2232位点共检测到9种等位基因和24种基因型.2个位点对照组基因型分布符合Hardy-Weinberg定律.D2S388位点254 by等位基因频率在COPD组显著高于对照组(P<0.05) ; D2S2232位点204帅等位基因频率在COPD组显著低于对照组(P<0.05).结论 D2S388和D2S2232微卫星多态性可能与新疆维吾尔族吸烟者COPD易感性有关.
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