Human Survival Motor Neuron 1 (SMN1) Gene Detection Kit-P124H

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease characterized by degeneration of motor neurons in the anterior horn of the spinal cord, which is clinically manifested as progressive and symmetrical muscle weakness, atrophy and paralysis in the proximal extremity and trunk. SMN1 is the main pathogenic gene of SMA, and SMN2 is a regulatory gene. 95% of SMA patients showed homozygous deletion of exon 7 and/or 8 of SMN1 gene, and the remaining 5% or so patients showed heterozygous deletion of exon 7 of SMN1 and point mutation compound heterozygous deletion of SMN1.

Tianlong Human Survival Motor Neuron 1 (SMN1) Gene Detection Kit, based on PCR melting curve method, is used to detect the copy number of SMN1 at the 7th exon and (or) the 8th exon in human genomic DNA. It is is suitable for screening SMN1 gene carriers in spinal muscular atrophy.