Gene Space : Genetic Mutations in Spinal Muscular Atrophy

ISBN-13: 9783659842696 / Angielski / Miękka / 2016 / 56 str.

Shahin Asadi; Zahra Gholizdeh

Opis

Today, cerebral palsy and muscular diseases to humans is an irreversible disorder. These diseases are often genetic and are often associated with genetic mutations. In this book we assess our own research for genes involved in diseases, cerebral palsy and muscular, focused. We hope that molecular genetics and gene therapy techniques in the future, especially to cerebral palsy and muscular routes suitable treatment for genetic disorders, explore.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.

O autorze

Shahin Asadi,student of Molecular Genetics, Studied Molecular Biology at Tabriz Islamic Azad University Sciences.Bachelor of Moleculer and Cellular Biology-Genetics,Master of Moleculer Biology and Genetics.Zahra Gholizaseh student of Molecular Biology-Genetics at Tabriz Islamic Azad University Sciences.Bachelor of Tocology (Midwifery),Tabriz.