A new single base substitution in a Japanese phenylketonuria (PKU) patient.
DNA analysis on phenylalanine hydroxylase (PAH) gene was performed in four Japanese PKU patients. By the Southern analysis, three patients were confirmed to be homozygous for haplotype 4, and the other one was homozygous for haplotype 2. Sequence analysis on the mutant PAH gene of this haplotype 2 patient, who was born to first-cousin parents, disclosed it to be a C-to-T transition in exon 7. This transition causes the substitution of Arg261 codon to a termination codon.
Shirahase
W
W
Department of Pediatrics, Shiga University of Medical Science, Japan.
Oya
N
N
Shimada
M
M
D001483:Base Sequence; D006239:Haplotypes; D006801:Humans; D007564:Japan; D008969:Molecular Sequence Data; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
D010651:Phenylalanine Hydroxylase