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α_1-抗糜蛋白酶基因Bochum-1、Bonn-1突变型与儿童哮喘相关性研究
引用本文:黄锐,曹虹,李海粟,罗放灵.α_1-抗糜蛋白酶基因Bochum-1、Bonn-1突变型与儿童哮喘相关性研究[J].中国优生与遗传杂志,2010(4):21-23.
作者姓名:黄锐  曹虹  李海粟  罗放灵
作者单位:昆明市延安医院儿科;昆明市延安医院检验科;
摘    要:目的了解α1-抗糜蛋白酶(AACT)基因突变与昆明儿童哮喘发生是否具有相关性。方法应用聚合酶链反应(PCR)技术、限制性片段长度多态性(RFLP)分析方法,选择昆明市汉族哮喘儿童及正常儿童各50例,对α1-抗糜蛋白酶基因外显子(exon)Ⅱ、Ⅲ进行检测。结果所有研究对象均未发现α1-抗糜蛋白酶基因Bochum-1、Bonn-1突变型。结论α1-抗糜蛋白酶基因Bochum-1、Bonn-1突变型与50例昆明市汉族儿童哮喘发病无相关关系。

关 键 词:儿童哮喘  α1-抗糜蛋白酶  基因突变  聚合酶链反应

Study on α_1-antichymotrypsin gene Bochum-1,Bonn-1 mutations among asthmatic children
HUANG Rui,CAO Hong,LI Hai-su,LUO Fang-ling..Study on α_1-antichymotrypsin gene Bochum-1,Bonn-1 mutations among asthmatic children[J].Chinese Journal of Birth Health & Heredity,2010(4):21-23.
Authors:HUANG Rui  CAO Hong  LI Hai-su  LUO Fang-ling
Institution:HUANG Rui,CAO Hong,LI Hai-su,LUO Fang-ling.(Department of Pediatrics,Yan\'an Hospital,Kunming 650051)
Abstract:Objective:To understand α1-antichymotrypsin gene mutations of children asthma in Kunming.Methods:50 patients with children asthma and 50 controls were tested for exon Ⅱ,Ⅲ of α1-antichymotrypsin by PCR,RFLP to analyze AACT encoding gene.Results:Bochum-1,Bonn-1 mutations of the AACT gene were not found in any of the subjects.Conclusion:There is no relationship between α1-antichymotrypsin gene mutations including Bochum-1,Bonn-1 and 50 han asthmatic children in Kunming.
Keywords:Children asthma  α1-antichymotrypsin  Gene mutation  PCR
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