title: Phenylketonuria mutation in Chinese haplotype 44 identical with haplotype 2 mutation in northern-European Caucasians.
abstract: DNA amplification with the polymerase chain reaction was employed to identify the phenylketonuria (PKU) mutation in Chinese PKU families. The amplified DNA was hybridized with oligonucleotides corresponding to the two most common mutant alleles, i.e., mutations associated with PKU haplotype 2 and 3 among Caucasians of northern-European ancestry. The results of analysis demonstrate that the mutation in Chinese haplotype 44 is a single-base substitution corresponding to the mutation associated with haplotype 2 in Caucasians, whereas the mutations of the phenylalanine hydroxylase gene in haplotypes 4, 7, 11 and 28 among Chinese do not correlate with either of the two mutations identified in northern-European Caucasians.
authors.affiliation: Department of Medical Research, Veterans General Hospital, Taipei, Taiwan, Republic of China.
authors.forename: T F
authors.initials: TF
authors.lastname: Tsai
authors.forename: K J
authors.initials: KJ
authors.lastname: Hsiao
authors.forename: T S
authors.initials: TS
authors.lastname: Su
mesh_terms: D044466:Asian People / Q000235:genetics; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D009154:Mutation; D009693:Nucleic Acid Hybridization; D015345:Oligonucleotide Probes; D010375:Pedigree; D010661:Phenylketonurias / Q000235:genetics*; D016133:Polymerase Chain Reaction; D044465:White People / Q000235:genetics
chemical_list: D015345:Oligonucleotide Probes