DdeI digestion of SMN transcripts. M: DNA marker; lane 1: normal controls carrying two SMN1 and two SMN2 copies; 2: case 2 carrying the p.Ser8LysfsX23 mutation; 3: case 4 carrying the p.Glu134Lys mutation; 4: case 6 carrying the p.Leu228X mutation; 5: case 8 carrying the p.Ser230Leu mutation; 6: case 10 carrying the p.Tyr277Cys mutation; 7 and 8: patient 12 and her father carrying the p.Arg288Met mutation; 9: the carrier with one copy of the SMN1 gene. Transcripts for fl-SMN1, fl-SMN2 and Δ7-SMN2 were separated using 6% polyacrylamide gel electrophoresis following digestion with DdeI. In patient 11 carrying the p.Arg288Met mutation (line 7), the fl-SMN1 transcript (1259 bp) almost disappeared, but the undigested △7-SMN1 fragment (1205 bp) was more prominent. This was also observed in the patient’s father (line 8).
Yu-jin et al. BMC Medical Genetics 2012 13:86 doi:10.1186/1471-2350-13-86