ADAM33基因Q-1、T1位点多态性与黔北地区汉族COPD的相关性

Association between Q-1 and T1 locus polymorphism in ADAM33 gene and chronic obstructive pulmonary disease in Han population in northern Guizhou

目的检测ADAM33基因Q-1、T1位点多态性在慢性阻塞性肺疾病(COPD)患者中的分布频率,探讨Q-1、T1位点多态性与黔北地区汉族COPD的相关性,为COPD的预防及治疗提供理论依据。方法采用聚合酶链反应技术、电泳分离及DNA测序的方法检测ADAM33基因Q-1、T1位点多态性。结果ADAM33基因Q-1、T1位点病例组和对照组的基因型分布均符合Hardy-Weinberg平衡定律,AD-AM33基因Q-1、T1位点均有C、T等位基因。在病例组、对照组及COPD+慢性呼吸衰竭、COPD+低氧血症中基因型及等位基因频率分布差异均无统计学意义(P>0.05),但T1(83 bp、112 bp)处两个杂合子在同一个样本中同时出现的概率较高(18/19),位于编码区。结论 ADAM33基因Q-1、T1位点多态性与黔北地区汉族COPD尚无相关性。

Objective To explore the association between Q?1and T1locus polymorphism in ADAM33gene and chronic obstructive pulmonary disease in Han population in northern Guizhou by detecting Q?1and T1locus polymorphism in ADAM33gene in patients with COPD in the distribution of frequency,provide a theoretical basis for the prevention and treatment of COPD.Methods Polymerase chain reaction and DNA sequencing technology,electrophoresis separation method were applied to detect Q?1and T1locus polymorphism in ADAM33gene.Results The genotype distribution of Q?1and T1locus in the case group and the control group of ADAM33gene were in accordance with the Hardy?Weinberg equilibrium law and ADAM33gene Q?1,T1locus were C and T alleles.There was no significant difference in genotype and allele frequency distribution between the case group with control group,and COPD complicated with chronic respiratory failure(COPD)and hypoxemia(P>0.05).T1(83bp,112bp)at a high probability of two heterozygous in the same samples(18/19),and is located in the encoding region.Conclusion No association was found between Q?1,T1locus polymorphism in ADAM33gene and chronic obstructive pulmonary disease in Han population in northern Guizhou.