A) Sequencing shows the heterozygous 1 bp deletion (c.2612delG) (arrow) of case1. Lane 1: wild type sequence of exon 15; lane 2: forward case specific sequence B) shows the wild type sequence in lane 3 and the heterozygous sequence (forward) with the 5bp deletion (c.3183-3187delACAAA) (arrow) of case1 in lane 4 (©S. Karger AG, Basel, Switzerland); b) Polyacrylamid gel electrophoresis of amplified mummy DNA. PCR was performed on fragments of the human gene β-actin (297 bp) and the sex specific amelogenin gene (female 106bp (sample 1)), male 106/112 bp (sample 2), lane description: M: 100 bp molecular length standard (Peqlab, Germany): 1) lane 1: Amelogenin PCR (SPATS DNA extraction method) of ∼60 pg female mummy DNA;lanes 2, 7, 4, 8: Amelogenin PCR (supporting membrane, lysis buffer, PCR master mix and H2O control as negative controls); lane 3: Amelogenin PCR (conventional DNA extraction method) ∼50 pg female mummy DNA; lane 5+6: Amelogenin PCR (100 pg male and female human reference DNA, positive control); lane 9: β-actin PCR of ∼60 pg mummy DNA (SPATS DNA extraction method); lane 10: β-actin PCR negative control (PCR master mix). 2) lanes 1, 4, 5, 6: Amelogenin PCR (supporting membrane, lysis buffer, PCR master mix and H2O control as negative controls); lane 2+3: Amelogenin PCR (100 pg male and female human reference DNA, positive control); lane 7, Amelogenin PCR (conventional DNA extraction method) ∼100pg male mummy DNA; lane 8: Amelogenin PCR (SPATS DNA extraction method) of ∼60 pg male; lane 9: β-actin PCR of ∼60 pg mummy DNA (SPATS DNA extraction method); lane 10: β-actin PCR negative control (PCR master mix) (©John Wiley & Sons, Ltd).
