Spinal muscular atrophy (SMA) is muscular disease mostly characterized with loss of motor neurons, because of autosomal recessive defects. Neuromuscular results such as progressive muscle difficulties and stroke are observed at individuals. SMA is a serious health problem that’s seen as diseased 1 in 10.000 and as carrier 1 in 40. SMA is detected typically on exon 7 of SMN1 and SMN2 genes which have high homology and are found at chromosome 5q13.1 locus as inter-chromosome repeat of Survival Motor Neuron (SMN) (Lefebvre et al., 1995; Schmutz et al., 2004). While exon 7 of SMN1 gene isn’t found ~95% of people with SMA, normal individuals have 2 or more copy of SMN1.
Dia-KBC SMA COPY NUMBER SCREENING TEST (SMN1)
It has been reported that, SMA mutation at Survival Motor Neuron 1 (SMN1) gene cause homozygote deformation as conversion or deletions. C→T (840C→T) conversion at SMN1 gene exon 7 is functionally important. The variation does not change the sequence, but it remove an exon junction region. It has been reported, relation with SMA disorder directly and detected differences has role on carriers.