title: Identification of a novel phenylketonuria (PKU) mutation in the Chinese: further evidence for multiple origins of PKU in Asia.
abstract: A novel mutation has been identified in the human phenylalanine hydroxylase (PAH) gene of a Chinese patient with classical phenylketonuria (PKU). It is a single base transition of G to A at the last base in intron 4 of the gene, which abolishes the 3'-acceptor site of the intron. Population screening indicates that this mutation constitutes about 8% of all PKU chromosomes in Chinese but is absent in Japanese and Caucasian PKU patients. It is prevalent in southern China but rare in northern China, providing additional evidence that there were multiple founding populations of PKU in east Asia.
authors.affiliation: Howard Hughes Medical Institute, Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030.
authors.forename: T
authors.initials: T
authors.lastname: Wang
authors.forename: Y
authors.initials: Y
authors.lastname: Okano
authors.forename: R C
authors.initials: RC
authors.lastname: Eisensmith
authors.forename: W H
authors.initials: WH
authors.lastname: Lo
authors.forename: S Z
authors.initials: SZ
authors.lastname: Huang
authors.forename: Y T
authors.initials: YT
authors.lastname: Zeng
authors.forename: S L
authors.initials: SL
authors.lastname: Woo
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D005787:Gene Frequency; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics*; D012326:RNA Splicing; D012333:RNA, Messenger / Q000737:chemistry
chemical_list: D012333:RNA, Messenger; D010651:Phenylalanine Hydroxylase