Gene diagnosis and carriers detection of spinal muscular atrophy by multiplex ligation-dependent probe amplification

Objective To study the value of MLPA (multiplex ligation-dependent probe amplification) technique in the gene diagnosis and create a reliable platform of prenatal diagnosis for spinal muscular atrophy(SMA).Methods Genomic DNA samples from patients were analyzed by applying SALSA MLPA kit P021-A1.DNA from parents of 6 patients were analyzed by SALSA MLPA kit P060-A2.PCRRFLP and DNA sequencing techniques were used to confirm SMN gene deletion.Results MLPA analysis by kit P021-A1 showed that all 4 patients with SMA presented homozygous deletion of exon 7 and exon 8 of SMN1 gene while the another 2 patients were homozygous deletion of exon 8 of SMN1 gene.Moreover,mutations and/or small deletion in genes like GTF2H2 and BRIC1 adjacent to gene SMN were detected in parts of patients and their parents by MLPA.Conclusions MLPA is a rapid and reliable diagnostic method for patients and carriers of spinal muscular atrophy.Relationship between genotype and phenotype would be analyzed by detecting mutaion and/or deletion in genes such as GTF2H2 and BRIC1.