Abstract
Background and Objectives: Spinal Muscular Atrophy (SMA) is one of the major neurodegenerative disorders leading to weakness and atrophy of voluntary muscles and causes death in patients. This disease forms the second most common fatal autosomal recessive disease after cystic fibrosis, with an incidence of 1 in 10000 newborns and carrier frequency of 1/40 to 1/50 in different populations. SMA could be classified into three groups based on the age of onset. Linkage analysis has revealed that all three forms of SMA maps to 5q11.2–q13.3. Application of microsatellites located in the region could be useful for identifying carriers in affected families.
Materials and Methods: Families of SMA patients diagnosed by neurologists and molecular genetic method were investigated in this study. Parents of patients were studied for the polymorphism of microsatellites selected from the SMA region. Linkage analysis was performed to detect carriers in these families with confidence of more than 98%.
Results: In this study 21 affected families were analyzed. Three different microsatellites located in the interested region (D5S637, D5S1408 and D5S1414) were utilized. D5S637 in none of the families was polymorphic. D5S1408 in 2 families (9.5%) and D5S1414 in most of the families (70%) were polymorphic.
Conclusion: we could utilize D5S1414 to detect carriers of SMA in affected families from east Azerbaijan by linkage analysis.