多重连接依赖性探针扩增方法在脊髓性肌肉萎缩症基因诊断中的应用

摘要

目的 探讨多重连接依赖性探针扩增 (MLPA) 方法在脊髓性肌肉萎缩症 (SMA) 基因诊断中的应用,指导SMA的遗传咨询.方法收集 3 例疑似SMA的患儿及其父母的外周血标本,提取基因组DNA,应用MLPA技术进行分析.结果3 例患儿均存在运动神经元存活基因端粒侧 (SMN1) 的纯合缺失,拷贝数为 0;患儿父母均存在SMN1基因的杂合缺失,拷贝数为 1.结论 MLPA技术可以应用于SMA患儿的基因诊断,不仅快速、简便,还可辨别携带者致病基因杂合缺失情况,可筛查携带者.%Objectives To study the application of multiplex ligation-dependent probe amplification (MLPA) in molecular diagnosis of spinal muscular atrophy (SMA) as basis for SMA genetic counseling. Methods Peripheral blood samples were collected from three SMA suspected patients and their parents.Genomic DNA was isolated and analyzed by MLPA. Results MLPA analysis showed that all the 3 children had homozygous deletion of the survival of motor neuron l (SMN1) gene and the copy number was 0. Both of the parents had heterozygous deletion of the SMN1 gene and the copy number was 1. Conclusions Application of MLPA in molecular diagnosis of SMA not only makes diagnosis quick and easy, but also identifies and screens the gene heterozygous deletion of carriers.