100例重庆市汉族儿童哮喘α_1-抗糜蛋白酶基因突变初探

Gene analysis of α_1-antichymotrypsin hereditary deficiency among 100 Han asthmatic children in Chongqing

目的 :了解儿童哮喘α1 抗糜蛋白酶(α1 antichymotrypsin,α1 ACT)基因点突变情况。方法 :应用聚合酶链反应(PCR)和限制性酶切图谱分析技术 ,对100例重庆市汉族儿童哮喘α1 ACT基因外显子(exon)Ⅱ和Ⅲ进行检测。结果 :所有研究对象均未发现Bonn 1及Bochum 1变异体。结论 :Bonn 1和Bochum 1变异体与100例重庆市汉族儿童哮喘发病无平行关系。

Objective: To understand the situation of α1 antichymotrypsin gene point mutations of childhood asthma. Methods: One hundred patients with childhood asthma and 100 normal controls were tested for gene analysis of exon II and exon III of α1 antichymotrypsin by PCR and restriction endonuclease mapping. Results: Molecular structural abnormality of the genes was found in all the subjects. Conclusion: There is no parallel relationship between variants including Bonn 1 and Bochum 1 and 100 han asthmatic children in Chongqing.