Molecular analysis of DNA and RNA from an SCN patient with an

ELA2 mutation. (A) AciI restriction enzyme digestion demonstrating heterozygosity in patient 11 and wild-type alleles in the parents. C4477A mutation removes a cleavage site for the enzyme AciI. (B) RT-PCR analysis demonstrating equivalent amounts of the normal and mutant mRNA. Splice acceptor mutation leads to insertion of 6 bp in the mRNA transcript.