Abstract
Background and Objectives: Spinal Muscular Atrophy (SMA) is one of the neurodegenerative disorders leading to weakness and atrophy of voluntary muscles. This disease forms the second most common fatal autosomal recessive disease after cystic fibrosis, with an incidence of 1 in 10000 newborns. In most of the patients of SMA, exon 7 and/or exon 8 of SMN1 gene is deleted. In this study we analyzed both exons in SMA patients referred from East Azerbaijan region applying molecular methods.
Materials and Methods: SMA patients diagnosed by neurologists were referred to the lab. DNA was extracted from the whole peripheral blood and was analyzed for exons 7 and 8 of SMN1 gene by applying PCR-RFLP technique.
Results: Our study indicates that 43.3% (13/30) of SMA type I patients and 6.25% (1/16) of SMA type II patients had deletions in both exons 7 and 8 of SMN1 gene. Among SMA type II patients, 6.25% had deletions in both exons. Deletion of exon 7 or exon 8 alone was observed in 6.25% of SMA patients affected by type II.
Conclusion: Deletions of exon 7 and exon 8 of SMN1 gene was observed in most of the SMA type I and type II patients.