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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(对照组)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 bp等位基因频率在COPD组显著高于对照组(P<0.05);D2S2232位点204 bp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。
Objective To study the distribution of D2S388 and D2S2232 microsatellite polymorphisms in the Uygur population and patients with chronic obstructive pulmonary disease (COPD) in Xinjiang and investigate the relationship between D2S388 and D2S2232 microsatellite polymorphisms and susceptibility to COPD in Xinjiang Uighur. Methods Respiratory department of First Affiliated Hospital of Shihezi University, Respiratory Department of People’s Hospital of Xinjiang Uygur Autonomous Region, Department of Respiratory Diseases, First Aid Hospital of Xinjiang Uygur Autonomous Region, and Respiratory Unit of First People’s Hospital of Kashi Prefecture of Xinjiang Uygur Autonomous Region were hospitalized from March 2009 to September 2010 Of 118 Uygur smokers with COPD and 110 healthy controls (control group). The D2S388 and D2S2232 polymorphisms were detected by fluorescence-labeled multiplex polymerase chain reaction amplification short tandem repeat (STR-PCR) combined with capillary electrophoresis. Results Nine alleles and 26 genotypes were detected at D2S388 locus. Nine alleles and 24 genotypes were detected at D2S2232 locus. The genotypes distribution of the two loci accorded with Hardy-Weinberg’s law. The frequency of 254 bp allele at D2S388 locus in COPD group was significantly higher than that in control group (P <0.05). The 204 bp allele frequency at D2S2232 locus in COPD group was significantly lower than that in control group (P <0.05). Conclusion The microsatellite polymorphisms of D2S388 and D2S2232 may be related to the COPD susceptibility of Uighur smokers in Xinjiang.