title: Mutation analysis of phenylketonuria in Yamagata prefecture, Japan.
abstract: 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.
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Kimura
authors.forename: H
authors.initials: H
authors.lastname: Ikeda
authors.forename: K
authors.initials: K
authors.lastname: Akaba
authors.forename: P
authors.initials: P
authors.lastname: Guldberg
authors.forename: F
authors.initials: F
authors.lastname: Güttler
authors.forename: K
authors.initials: K
authors.lastname: Maki
authors.forename: S
authors.initials: S
authors.lastname: Aikawa
authors.forename: K
authors.initials: K
authors.lastname: Hayasaka
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D015180:Electrophoresis, Gel, Two-Dimensional; D005260:Female; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D007564:Japan; D008297:Male; D009154:Mutation; D015997:Neonatal Screening; D010375:Pedigree; D010641:Phenotype; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics*
chemical_list: D010651:Phenylalanine Hydroxylase