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Assessment of Genetics Mutation of SMN1, SMA And SMN2 Genes In Spinal Atrophy-Muscle

Author

Listed:
  • Asadi S

    (Department of Molecular Geneticist, Islamic Azad University, Iran)

Abstract
Muscle atrophy syndrome - Spinal (SMA) is one of the common diseases of muscle - nerve, with progressive paralysis is due to the alpha motor neuron in the spinal cord becomes waste. SMN1 and SMN2 gene expression in SMA by only a single nucleotide in exon 7 are different. Homozygous deletion of exon 7 in the SMN1 gene is the most common mutation observed. Compound heterozygosity small proportion of patients with a point mutation in one allele and the other allele are removed. In other cases the disease does not appear to be the result of a change in SMN1. In spinal atrophy-muscle, SMN2 unable to compensate for the shortage caused by the deletion of exon 7. The aim of the present study was to estimate the prevalence of common deletion of exon 7 in the SMN1 gene families in Tabriz, in order to determine the status of the carrier and prenatal diagnosis.

Suggested Citation

  • Asadi S, 2017. "Assessment of Genetics Mutation of SMN1, SMA And SMN2 Genes In Spinal Atrophy-Muscle," International Journal of Cell Science & Molecular Biology, Juniper Publishers Inc., vol. 3(2), pages 51-54, October.
    • Handle: RePEc:adp:ijcsmb:v:3:y:2017:i:2:p:51-54
    DOI: 10.19080/IJCSMB.2017.03.555615
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