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目的 :探讨 β2 肾上腺素受体编码区 16 ,2 7位点遗传多态性与哮喘的关系 .方法 :通过测序确定15 4名受试者的基因突变类型 (正常对照组 86名 ,哮喘组 6 8名 ) ,并测定哮喘患者的FEV1,调查患者使用 β2激动剂情况 ,以分析哮喘与 16 ,2 7位点遗传多态性的关系 .结果 :中国人群存在 16位点Arg→Gly及 2 7位点Gln→Glu的突变 ,但与高加索人群比较突变频率较低 ,16位点分别为 42 31%和 70 0 % (P <0 0 0 1) .2 7位点分别为 8 7%和 49 1% (P <0 0 0 1) .16位点基因型分别为Arg/Arg ,Arg/Gly ,Gly/Gl的患者 ,FEV1分别为 0 6 4± 0 0 6 ,0 73± 0 0 4及 0 82± 0 0 5 (F =78 85 ,P <0 0 0 1) ,差异显著 .平均每周使用 β2 激动剂(1 7± 0 3) ,(3 8± 1 4)及 (6 5± 2 2 )mg (F =6 5 73,P <0 0 0 1) .结论 :中国西南地区人群与高加索人群 16 ,2 7位点的基因突变频率不同 ,β2 肾上腺素受体的遗传多态性不是哮喘发病的基本原因 ,但是却影响哮喘的临床严重度
Objective: To investigate the relationship between genetic polymorphisms of β2 adrenoceptor gene at 16 and 27 sites and asthma.Methods: The gene mutation types of 154 subjects were determined by sequencing (86 in normal control group, 6 in asthma group 8), and measured FEV1 in asthmatic patients and investigated the use of β2 agonists in patients to analyze the relationship between asthma and genetic polymorphism at loci of 16,277.Results: There were 16 loci Arg → Gly and 27 Site mutation Gln → Glu, but the frequency of mutation was lower than that of the Caucasian population, with 42 31% and 70 0% respectively (P 0 01), and 27 sites were 87% and 49 1% (P <0.01) .Among the 16 genotypes of Arg / Arg, Arg / Gly and Gly / Gl, the FEV1 values were 0 6 4 ± 0 0 6 and 0 73 ± 0 0 4, respectively 0 82 ± 0 0 5 (F = 78 85, P 0 01 0), the average weekly use of β2 agonists (1 7 ± 0 3), (3 8 ± 1 4) and (6 5 ± 2 2) mg (F = 6 5 73, P 0 01 0) .Conclusion: The frequency of gene mutation at 16,27 sites in the population of Southwest China and Caucasians is different, and the genetic polymorphism of β2 adrenergic receptor Not the basic cause of asthma, but it Severe degree of clinical response to asthma