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哮喘患者12号染色体微卫星不稳定性和杂合性丢失的研究
引用本文:周爱莲,龙发,陈丽芳,李俊华,招强光,卓宋明.哮喘患者12号染色体微卫星不稳定性和杂合性丢失的研究[J].湛江医学院学报,2010(5):501-504.
作者姓名:周爱莲  龙发  陈丽芳  李俊华  招强光  卓宋明
作者单位:[1]广东省深圳市第五人民医院呼吸内科,广东深圳518001 [2]广东省深圳市蛇口人民医院呼吸内科,广东深圳518067 [3]广东省深圳市龙岗中心医院呼吸内科,广东深圳518116
基金项目:深圳市罗湖区软科学研究计划资助项目(No.200731)
摘    要:目的了解广东湛江地区哮喘患者12号染色体微卫星不稳定性(microsatellite instability,MSI)及杂合性丢失(loss of heterozygosity,LOH)情况。方法采用PCR、聚丙烯凝胶电泳及硝酸银染色法对30例哮喘患者和30例健康对照者外周血及痰液DNA中12q13.11-24.31上10个微卫星位点进行检测。结果健康对照者未发现任何微卫星改变现象。30例哮喘患者中,8例(26.7%)患者痰液DNA有一个或多个位点发生微卫星改变(包括MSI和LOH)。结论湛江地区哮喘患者痰液DNA中12号染色体上可检测到MSI和LOH现象。微卫星改变可能与哮喘之间存在一定的相关性,MSI和LOH可能在哮喘发病机制中起一定的作用。

关 键 词:哮喘  微卫星不稳定性  杂合性丢失  易感基因

Microsatellite instability and loss of heterozygosity on chromosome 12 in asthmatic patients
Institution:ZHOU Ai-lian, LONG Fa, CHEN Li-fang, LI Jun-hua, ZHAO Qiang-guang, ZHOU Song-ming (1. Department of Respiratory Diseases, Luohu People's Hospital, Shenzhen 518001, China)
Abstract:Objective To study the microsatellite instability (MSI) and loss of heterozygosity (LOH) on chromosome 12 in asthmatic patients in Zhanjiang, Guangdong. Methods Genomic DNA was extracted from sputum and peripheral blood in 30 asthmatic patients and 30 healthy individuals, and 10 microsatellite markers on chromosome 12q13.11-24.31 were then detected by PCR, polyacrylamide gel electrophoresis and silver staining. Results There was no microsatellite change in healthy controls. Eight of 30 asthmatic patients (26.7%) showed one or more loci of microsatellite alteration including MSI and LOH in phlegmy DNA. Conclusion MSI and LOH on chromosome 12 can be detected in phlegmy DNA of asthmatic patients in Zhanjiang. The microsatellite alteration may be related to the asthmatic susceptibility. MSI and LOH may play a role in the pathogenesis of asthma.
Keywords:asthma  microsatellite instability  loss of heterozygosity  predisposing gene
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