Figure 2

Panel A: Pedigree of the family #13. Panel B: PCR of exon 8 at agarose gel electrophoresis of siblings #13-II.1 & #13-II.3 and, WT showing, patient #13-II.1 & #13-II.3 were homozygous for 301 bp insertion by having a single band of 605 bp size instead of 304 bp. The other healthy family members were carriers for the insertion, due to band of both 304 and 605 bp size. Panel C: Schematic presentation of CTSK exon 7 & 8, 301 bp insertion and forward (a) and reverse (b) primer sites. Panel D: Sequencing results from forward primer located at intron 7 and reverse primer from exon 8 of the patients #13-II.1 showing insertion starting from intron 7 after ctt nucleotide and following with poly (T) which belongs to the human Alu of 301 bp in antisense direction. For nucleotides; small letters represents intron 7, white capital letters and red capital letters represent exon 8, inserted segment, respectively. New splice acceptor site within the inserted segment is given in the box and stop codon as gray capital letters.