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

Asadi S
Additional contact information
Asadi S: Department of Molecular Geneticist, Islamic Azad University, Iran

International Journal of Cell Science & Molecular Biology, 2017, vol. 3, issue 2, 51-54

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.

Keywords: juniper publishers; Journal of Cell Science; Molecular Biology; International Journal of Cell Science; International Journal of Cell Science & Molecular Biology; molecular biology journals list; molecular biology impact factor; molecular biology scholarly journal; molecular biology online journals; molecular biology research papers; scientific journals; juniper publishers review (search for similar items in EconPapers)
Date: 2017
References: View complete reference list from CitEc
Citations:

Downloads: (external link)
https://juniperpublishers.com/ijcsmb/pdf/IJCSMB.MS.ID.555615.pdf (application/pdf)
https://juniperpublishers.com/ijcsmb/IJCSMB.MS.ID.555615.php (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:adp:ijcsmb:v:3:y:2017:i:2:p:51-54

DOI: 10.19080/IJCSMB.2017.03.555615

Access Statistics for this article

International Journal of Cell Science & Molecular Biology is currently edited by Sophia Mathis

More articles in International Journal of Cell Science & Molecular Biology from Juniper Publishers Inc.
Bibliographic data for series maintained by Robert Thomas ().