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目的 探讨 β2 -肾上腺素能受体 (β2 - adrenergic receptor,β2 AR)基因的多态性与中国人哮喘易感性的连锁关系 ,以及对疾病调节作用的重要性。方法 用聚合酶链反应 -限制性片段长度多态性技术 ,检测 β2 AR基因编码区第 16、2 7、16 4位氨基酸变异位点及核苷酸 5 2 3(C- A)位点 ,对 16 6例哮喘患儿及32个哮喘家系共 192份样品进行了分析。结果 所获得的中国人β2 AR基因多态性位点的等位基因频率 ,除编码区 Thr16 4Ile位点的频率与白种人基本相同外 ,其余 3个位点的等位基因频率与白种人明显不同 ,差异有显著性 (P<0 .0 0 1)。未能获得β2 AR基因多态性位点与哮喘、血清总 Ig E、变应原皮肤点刺实验阳性数 ,以及肺功能 (1秒用力呼气流量和最大峰流速 )具有相关性的肯定结果 ,未能证实 Arg16 Gly和Gln2 7Glu两位点的不同基因型与哮喘患儿吸入β2 AR激动剂后气道反应性的调节有关。结论 本研究的两组样本中 ,未能证实 β2 AR基因多态性是哮喘易感性、并参与调节哮喘临床表型的主要遗传决定基因。
Objective To investigate the linkage between the β2 - adrenergic receptor (β2 AR) gene polymorphism and susceptibility to asthma in Chinese and the importance of its regulation on the disease. Methods The mutation sites of amino acids 16, 2, 7 and 16 4 and nucleotide 5 2 3 (C-A) in the coding region of β2 AR gene were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) A total of 192 samples from 16 6 asthmatic children and 32 asthma pedigrees were analyzed. Results The allele frequency of the Chinese β2 AR gene polymorphism locus, except for the frequency of the Thr16 4Ile locus in the coding region, was basically the same as that of the Caucasian individuals. The allele frequencies of the other three loci were similar to those of the white People were significantly different, the difference was significant (P <0.001). No positive correlation was found between the polymorphism site of β2 AR gene and asthma, total serum IgE, the number of skin prick tests on allergens, and lung function (forced expiratory flow at 1 second and maximum peak velocity) , Failed to confirm that the different genotypes of Arg16 Gly and Gln2 7Glu loci correlate with the regulation of airway responsiveness following inhaled β2-AR agonist in asthmatic children. Conclusions The two-sample series in this study failed to confirm that β2 AR gene polymorphism is a predisposing asthma and is involved in the major genetic determinants of the clinical phenotype of asthma.