MLPA技术在脊髓性肌肉萎缩症基因诊断中的应用

Genetic diagnosis of spinal muscular atrophy using multiple ligation-dependent probe amplification technology

目的：探讨多重连接依赖性探针扩增（MLPA）技术在脊髓性肌肉萎缩症（SMA）患者、携带者及产前基因诊断中的应用。方法以临床诊断为 SMA 患儿为研究对象，采用基因组 DNA 多重连接探针扩增（MLPA）技术进行 SMN1基因和 SMN2基因拷贝数变异检测。结果 MLPA 分析结果显示，9个家系中9例患者及2例胎儿呈 SMN1基因纯合缺失，其父母双方 SMN1基因7、8外显子均为杂合性缺失，均为 SMA 携带者。结论 ML‐PA 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。

Objective To explore the value of disease diagnosis ,carrier diagnosis ,and prenatal diagnosis for spinal muscular atrophy using multiple ligation‐dependent probe amplification technology .Methods Using genomic DNA multiplex ligation‐dependent probe amplification （MLPA） the copy number variations of exon 7 and 8 of SMN1 and SMN2 were detected in children with clinically suspected SMA sample .Results According to MLPA ,9patients and 2 fetus were detected to carry homozygous deletion of survival motor neuron 1 （SMN1） gene .All of the parents had heterozygous eletion of exon 7 and 8 of the survival motor neuron 1 gene .Conclusion The multiple ligation‐de‐pendent probe amplification technology is a reliable method for disease diagnosis ,carrier diagnosis ,and prenatal diag‐nosis for spinal muscular atrophy .