Fig. 2

cDNA sequence chromatogram and expression analysis of β-actin and MMAA gene. a cDNA sequence chromatogram of MMAA from the affected daughter and the corresponding amino acid sequence, premature TAA stop codon 12 amino acids downstream of the methionine produced by the frame shift (green) (b) β-actin (size: 113 bp): Lanes 1: 100 bp marker, 2: cDNA from the affected daughter with the c.674delA mutation, 3: cDNA from a normal control, 4: negative control. c MMAA, exon 4, size: 508 bp):Lanes 1: 1 kbp marker, 2: cDNA from the affected daughter with the c.674delA mutation, 3: cDNA from a normal control, 4: negative control