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Mutation analysis of phenylketonuria in Yamagata prefecture, Japan
Author(s) -
Kimura Toshiyuki,
Ikeda Hiroyuki,
Akaba Kazuhiro,
Guldberg Per,
Güttler Flemming,
Maki Kazuko,
Aikawa Shogo,
Hayasaka Kiyoshi
Publication year - 2001
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1046/j.1442-200x.2001.01336.x
Subject(s) - phenylalanine hydroxylase , compound heterozygosity , genotype , medicine , mutation , genetic analysis , genetics , heterozygote advantage , gene , gene mutation , phenotype , incidence (geometry) , phenylketonurias , microbiology and biotechnology , phenylalanine , biology , optics , physics , amino acid
Background: We have screened 309 914 newborns in Yamagata prefecture, Japan, since 1977 and have detected four patients with phenylketonuria (PKU). We analyzed the phenylalanine hydroxylase ( PAH ) gene of the four patients to study the genetic background in this area and the genotype–phenotype relationship in these patients.Methods: Mutations of the PAH gene were screened by denaturing gradient gel electrophoresis analysis and the sequences were determined.Results: Three cases were compound heterozygotes of six different mutations of the PAH gene and the remaining case was a homozygote. Of the six detected mutations, K115fs is novel, whereas the others have been previously detected among Chinese and/or Japanese patients.Conclusions: The incidence and genetic basis in Yamagata prefecture was similar to that of other parts of Japan. Analysis of the genotype is useful to understand the clinical variation in some families.