GENE
DIAGNOSIS OF SPINAL MUSCULAR ATROPHY IN CHILDREN
Shan ZM, Wang HL, Song
L, et al
Tianjin Children’s
Hospital, Tianjin, China
Objective: Spinal muscular atrophy
(SMA) is a common fatal autosomal recessive disorder in childhood. The
clinical diagnosis is not always easy to make. The aim of this study was to
establish a gene diagnostic method for SMA.
Methods: Exon 7 in survival
motor neuron (SMN) gene analysis was performed by PCR and restriction
enzyme in 2 patients and their parents.
Results: Two patients lacked the
SMN exon 7. Their parents were normal.
Conclusion: The detection of exon 7
in SMN gene is a simple and reliable method for diagnosis of SMA.