D2S388、D2S2232微卫星长度多态性与汉族人慢性阻塞性肺疾病易感性关联研究

目的研究D2S388和D2S2232微卫星长度多态性及其与汉族人慢性阻塞性肺疾病（COPD）易感性的关系。方法提取80例吸烟COPD患者和81名健康吸烟者（全部为汉族人，来源于全国各地）外周血基因组DNA，用多聚酶链式反应-变性聚丙烯酰胺电泳-测序方法检测D2S388、D2S2232微卫星长度多态性。分析吸烟健康人群的基因型分布是否符合Hardy-Weinberg平衡，计算微卫星位点的多态信息含量，并对两组人群D2S388和D2S2232长度多态性进行比较。结果D2S388和D2S2232位点均分别检测出6种等位基因和12种不同基因型，等位基因分布比墨西哥人相对集中；吸烟健康人群D2S388和D2S2232位点基因型分布均符合Hardy-Weinberg平衡，D2S388位点杂合率为0．47，多态信息含量为0．54，D2S2232位点杂合率为0．45，多态信息含量为0．53。D2S388（AC）15等位基因在COPD患者中的分布频率高于健康吸烟组，其患COPD的机会比为3．0；两组人员D2S2232位点的等位基因频率差异无显著性意义。结论汉族人D2S388和D2S2232位点长度多态性与墨西哥人比较具有种族差异；D2S388长度多态性与中国汉族人COPD易感性有关，D2S2232长度多态性与中国汉族人COPD易感性无相关关系。

D2S388 and D2S2232 Length Polymorphism and Susceptibility to Chronic Obstructive Pulmonary Disease in Han Population

Objective To investigate the length polymorphism of D2S388 and D2S2232 microsatellite loci,and to study whether such polymorphism is associated with susceptibility to chronic obstructive pulmonary disease(COPD) in Han population.Methods After the process of extracting genomic DNA from peripheral blood of 80 COPD smokers and 81 healthy smokers of Han population from different regions of China,length polymorphism of D2S388 and D2S2232 microsatellite loci was determined by polymerase chain reaction/denaturing polyacrylamide gel electrophoresis/sequencing,respectively.Then Hardy-Weinberg equilibrium test was performed,and polymorphism information contents were calculated upon healthy smokers.At last,the length polymorphisms of D2S388 and D2S2232 loci were compared between COPD smokers and healthy smokers.Results Six alleles and 12 genotypes were found in both D2S388 and D2S2232 loci,and the allele distributions were relatively concentrated as compared with those in Mexican.For D2S388 and D2S2232 loci,the genotype distributions in healthy smokers were accordance with Hardy-Weinberg equilibrium.The heterozygosities and polymorphism information contents of D2S388 locus were 0.47 and 0.54,while 0.45 and 0.53 for D2S2232 locus respectively.D2S388(AC)15 allele frequency was higher in COPD smokers than in healthy smokers(OR=3.0).There was no significant difference in D2S2232 alleles distribution between COPD smokers and healthy smokers.Conclusion Length polymorphisms of D2S388 and D2S2232 loci in Han Population were different from those in Mexican.Length polymorphism of D2S388 but not D2S2232 was associated with susceptibility to COPD in Han population.