Fig. 1
From: Molecular Genetics of Autosomal Recessive Spinal Muscular Atrophy
Candidate genes for SMA lie in an inverted duplication spanning 500 kb on 5ql3
Single-stranded conformation polymorphism (SSCP) analysis allows resolution of the two copies of SMN exons 7 and 8 and the detection of deletions. Lane 1, a healthy individual; Lane 2, a healthy individual who lacks the centromeric version of SMN, deletion of which is not associated with a disease phenotype; Lane 3, a patient with type I SMA who is deleted for the telomeric version of SMN; Lane 4, a patient deleted for the telomeric version of exon 7 but who retains telomeric exon 8 (sequencing shows that this is due to a gene conversion event linking the centromeric version of exon 7 to the telomeric version of exon 8).