Genetic analysis of aldolase A gene mutations. (A) Sequence analysis of ALDOA exon VIII and IX and predicted amino acid change. A heterozygous mutation in exon VIII was found in the patient and her father. Maternal exon VIII (not shown) was wild type. In exon IX, the patient and her mother share a heterozygous mutation, which is absent in her father. (B) ALDOA sequence alignment. Partial human aldolase A polypeptide sequences from exons VIII and IX, aligned to highly conserved orthologs from other species (GenBank cDNA sequences: Xenopus, AAH46673; human, AAH16800; mouse, NP_031464; rat, NP_036627; rabbit, P00883; zebra fish, AAN04476). The patient's sequence, divergent at 2 otherwise invariant residues, is shown at the bottom.