Application of multiplex ligation-dependent probe amplification in molecular diagnosis of spinal muscular atrophy

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.