糖皮质激素受体基因外显子2/1密码子23多态性与支气管哮喘的相关性研究

Study of the Association of Glucocorticoid Receptor Gene Polymorphism with Asthme

目的检测糖皮质激素受体(Glucocorticoid Receptor,GR)基因外显子2/1密码子23多态性,从而探讨糖皮质激素受体基因外显子2/1密码子23与激素敏感型支气管哮喘的相关性。方法按标准方法从外周血白细胞中提取DNA,采用聚合酶链反应/单链构象多态性(Polymerase chain reaction/Single-strand conformation polymor-phism,PCR/SSCP)和基因测序技术,结合琼脂糖凝胶电泳,对20例哮喘患者(研究组)及20例健康对照组的糖皮质激素受体基因外显子2/1密码子23的基因型进行检测和分类。统计两组的各基因型频率,判断两组之间有无差异。统计学处理用χ2检验。结果经琼脂糖凝胶电泳显示哮喘组(20例)与健康对照组(20例)样本PCR产物片断长度约356 bp。SSCP分析显示哮喘组(20例)与健康对照组(20例)样本的电泳速率相同,提示无变异存在。行基因测序糖皮质激素受体外显子2/1密码子23基因型均为AGG。结论江西籍汉族人种中糖皮质激素受体基因外显子2/1密码子23基因未发现多态性的存在。糖皮质激素受体基因外显子2/1密码子23与激素敏感型支气管哮喘之间无明显联系。

Objective To investigate the association of glucocorticoid receptor gene polymorphism with asthma, and then to probe whether glucocorticoid receptor gene is or not a key gene （susceptibility gene） of asthma. Methods Polymerase chain reaction/Single-strand conformation polymorphism（PCR/SSCP）was used, and Analysis sequence of gene technique, combining agarose gel electrophoresis, to detect and categorizing the gene type of glucocorticoid receptor gene in exon 2/1 codon 23 among 20 asthmatic patients（study group）and 20 healthy people（contrast group）. Stat each gene type frequency of the two groups, estimate whether there was difference or not between the two groups. Statistics analysis was carried out with X^2 test. Results There was not aberrance of the glucocorticoid receptor gene in exon 2/1 codon 23 among the asthmatic group and the control group. All gene type of the glucocorticoid receptor gene in exon 2/1 codons 23 was AGG. Conclusion There is not linkage between glucocorticoid receptor gene in exon 2/1 codons 23 and asthma. Glucocorticoid receptor gene in exon 2/1 codons 23 is not a key gene （susceptibility gene） of asthma.