智力障碍儿童的亚端粒拷贝数变异检测  

Detection of subtelomeric copy number variations in children with intellectual disability

作　　者：朱丽娜[1] 王艳[1] 彭薇[1] 马秀伟[1] 杨晓[1] 刘欣[1] 封志纯[1] 

机构地区：[1]北京军区总医院附属八一儿童医院,北京100700

出　　处：《中国当代儿科杂志》2015年第12期1273-1276,共4页Chinese Journal of Contemporary Pediatrics

摘　　要：目的应用多重连接探针扩增技术(MLPA)检测亚端粒拷贝数变异,探讨遗传性智力障碍(ID)的发病机制。方法收集68例G-显带染色体核型分析结果正常的ID患儿,通过MLPA P036筛查亚端粒拷贝数变异。结果 68例患儿中检出亚端粒拷贝数异常者7例(10%),均为缺失突变,其中1例患儿涉及2个亚端粒的缺失变异,另1例患儿涉及4个亚端粒的缺失变异。结论亚端粒拷贝数变异是遗传性ID的重要病因;MLPA可作为研究遗传性ID患儿发病机制的经济、有效的方法。Objective To detect subtelomeric copy number variations in children with genetic intellectual disability（ID） using multiplex ligation-dependent probe amplification（MLPA）, and to investigate the pathogenesis of genetic ID. Methods A total of 68 children with ID who had normal results of G-banding karyotype analysis were included in the study. Their subtelomeric copy number variations were detected using MLPA P〈036. Results Among the 68 children with ID, 7（10%） showed subtelomeric copy number variations, and all the variations were deletion mutations. Among them, 1 case carried 2 subtelomeric microdeletions, and 1 case carried 4 subtelomeric microdeletions. Conclusions Subtelomeric copy number variations are important causes of genetic ID. MLPA can be used as an economic and effective method for investigating the pathogenesis of genetic ID.

关 键 词：智力障碍 亚端粒 拷贝数变异 多重连接探针扩增 儿童 

分 类 号：R749.94[医药卫生—神经病学与精神病学]