智力障碍儿童的亚端粒拷贝数变异检测

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。

Detection of subtelomeric copy number variations in children with intellectual disability

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 P036. 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.