β2AR16位点遗传多态性与支气管扩张症的关系研究.docVIP

3 2-AR-16位点遗传多态性与支气管扩张症的关系研宄 王传雷1 李来传2 史有奎2 陈京霞2 (1潍坊医学院山东潍坊 261053;2潍坊医学院附属医院急诊261031 】目的探讨beta;2-肾上腺素能受体(beta;2-AR)编码区16位点遗传 多态性与支气管扩张症(简称支扩)的发病及临床表型的关系。方法用直接测 序法测定176名受试者的基因型(正常对照组86例，支扩组90例)，并测定支 扩组的1秒用力呼气容积占预计值百分比(FEV1%)，观察不同基因型支扩患者 的肺功能及吸入沙丁胺醇后支气管舒张反应的阳性率，分析beta;2-AR-16位点 遗传多态性与支扩的发病及临床表的关系。结果两组研究对象的beta;2-AR编 码区16位点(Argrarr;Gly)的突变频率分别为46.5%和49.4%,差异无显著性 (chi;2=0.303,P0.05)；支扩组 16 位点基因型为 Arg/Arg、Arg/Gly 和 Gly/Gly 的患者，其 FEV1%分别为(75.9plusmn;6.8)、(72.3plusmn;7.2)和 (71.0plusmn;6.3),差异有显著性(F=4.048,P0.05)；吸入沙丁胺后支气管舒 张反应的阳性率分别为34.5%、15.2%和7.1%,差异有显著性(chi;2=7.425zP 0.05)。结论beta;2-AR16位点的遗传多态性可能不是支扩发病的基木原因， 但可能是影响支扩者临床严重程度重要原因之一。 关键词】支气管扩张症beta;2-肾上腺素能受体遗传多态性 】R+++++ 】A 12095-1752( 2012) 02-0018-02 The relationship betweenbeta;2-AR-16 genetic polymorphism and bronchiectasis Wang Chuan-leil,Li Lai-chuan2,Shi 丫ou-kui2,Chen Jing-xia2 1. Weifang medical university (wei fang 261053,China) 2.Dept. of enmegency,Affiliated hospital of wei f ang medical university Abstract】 Objective To investigate the relationship between the genetic polymorphism of beta;2 adrenergic receptor (beta;2-AR) at loci 16 and bronchiectasisrsquo; incidence and clinical phenotype. Methods By using the direct sequencing method for determining 176 subjectsrsquo; Genemutations (normal control group:n=86, bronchiectasis group: n=90),then take FEV1% as indicator to observe the effect of different genotypes of bronchiectasis patientsrsquo; basal pulmonary function andthe positive rate of bronchodilation response after inhaled salbutamol. Analysis the relationship of beta;2-AR-16 polymorphism and bronchiectasis in the pathogenesis and clinical phenotype.Results In two group of subjects ,the mutation frequencies of Arg - gt; Gly in beta;2-AR-16 are 46.5% and 49.4%( x2 = 0.303 P gt; 0.05 ); 16 locus genotype is Arg / Arg, Arg / Gly, Gly/Gly in patients with FEV1% are 75.9+6.8,72.3 + 7.2,71 + 6.3 ( F = 4.048, P lt; 0.05 ); after inhaled salbutamol, the positive rates ofbronchodilationresponseare 34.5