Скачать или смотреть Spinal muscular atrophy (SMA)

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 clinically manifests as progressive and symmetrical muscle weakness, atrophy, and paralysis in the proximal extremity and trunk. SMN1 is the main pathogenic gene of SMA. 95% of SMA patients show homozygous deletion of SMN1 in exon 7. The remaining 5% show heterozygous deletion of SMN1 in exon 7 and point mutation compound heterozygous deletion of SMN1.

Based on PCR melting curve method, Tianlong's Human Survival Motor Neuron 1 (SMN1) Gene Detection Kit is used for detecting the copy number of SMN1 in exon 7 and exon 8 of human genomic DNA. This kit is suitable for the auxiliary diagnosis of SMN1 patients and screening SMN1 gene carriers.