Fig. 3

Functional analysis of the mutation c.434A>G in ASL and its effect on mRNA splicing. a cDNA gel electrophoresis: 1, DNA molecular weight marker (100–1000 bp); 2, c.434A>G mutated cDNA; 3, wild type cDNA; 4, pSPL3 plasmid control. b Sequence of the mutated cDNA amplification product ASL-M and wild type cDNA amplification product ASL-C2, both showing exon 5 deletion. The red box represents exon 6. c Sequence of wild type cDNA amplification product ASL-C1 showing the reference sequence. The dark blue box represents exon 5, red box represents exon 6. d Scheme for the effects of the mutation c.434A>G. ASL-M is exactly the same as ASL-C2 with splicing out of exon 5. The sequence of ASL-C1 identical to the reference sequence, without alternative splicing