【摘要】 目的:探讨新疆哈萨克族慢性阻塞性肺疾病(chronic obstructive pulmonary disease,COPD)患者发病与肺泡表面活性物质相关蛋白A(surfactant protein A,SP-A)基因位点aa62、aa219多态性的关系。方法:采用病例对照研究设计,纳入新疆哈萨克族吸烟COPD患者103例作为实验组,吸烟健康人103例作为对照组。提取206例样本外周血基因组DNA。采用Taqman探针标记荧光定量聚合酶链式反应(polymerase chain reaction,PCR)法检测SP-A的aa62(CCA/CCG,rs1136451)和aa219(CGG/TGG,rs4253527)两个位点的单核苷酸多态性,获得各基因型和等位基因的分布频率。结果:在aa62位点,两组AA,AG、GG基因型比较无统计学意义(χ2=2.958,P=0.250),A、G等位基因频率比较也无统计学意义(χ2=2.536,P=0.111,OR=1.532,95%CI:0.904-2.595)。Aa219位点,两组CC,CT,TT基因型比较无统计学意义(χ2=2.799,P=0.094),等位基因C、T频率比较也无统计学意义(χ2=1.945,P=0.163,OR=1.548,95%CI:0.56-1.22)。结论:新疆哈萨克族人吸烟COPD患者发病与SP-A的aa62(CCA/CCG,rs1136451)位点与aa219(CGG/TGG,rs4253527)位点基因多态性可能无相关性。更多还原

【Abstract】 Objective: To investigate the relationship between Chronic Obstructive Pulmonary Disease(COPD) and aa62,aa219 of surfactant protein-A(SP-A) Polymorphism in Xinjiang Kazakh Population.Methods:The case-control study had been used in this research,DNAs were extracted from peripheral blood of 103 COPD smokers and 103 healthy smokers of Kazakh population.Polymorphisms of rs1136451 and rs4253527 were determined by the Taqman polymerase chain reaction(PCR) method.Results:Genotypes(AA、AG、GG)frequencies were not different between the COPD and normal smoker for aa62(χ2=2.958,P=0.250).There also has no significant differences in allele genotype(A、G)frequencies to the COPD and normal smoker(χ2=2.536,P=0.111,OR=1.532,95%CI: 0.904-2.595).Genotypes(CC、CT、TT) frequencies were not different between the COPD and normal smoker for aa219(χ2=2.799,P=0.094);There were no also differences in allele genotype(C,T)(χ2=1.945,P=0.163,OR=1.548,95%CI:0.56-1.22).Conclusion:The polymorphism of Aa62(CCA/CCG,rs1136451) and Aa219(CGG/TGG,rs4253527) in SP-A may not be associated with the susceptibility to COPD in xinjiang Kazakh Population.更多还原