title: PAH 399 GTA (Val)----GTT(Val), a new silent mutation found in the Chinese.
abstract: A silent mutation or sequence polymorphism, an A to T substitution at codon 399 in exon 11 of the phenylalanine hydroxylase (PAH) gene has been identified by DNA sequence analysis in the Chinese. The frequencies of this new mutation in normal and abnormal (phenylketonuria: PKU) genes are 0.005 and 0.09, respectively, based on the analyses of 100 apparently normal individuals and 39 PKU patients, as demonstrated by DNA amplification with polymerase chain reaction (PCR) and oligonucleotide hybridization methods. The results suggest that there is linkage disequilibrium between this polymorphism and PKU mutations in the PAH gene; approximately 10% of defect PAH alleles in the Chinese population may be identified with this sequence polymorphic marker.
authors.affiliation: Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai, People's Republic of China.
authors.forename: S Z
authors.initials: SZ
authors.lastname: Huang
authors.forename: Z R
authors.initials: ZR
authors.lastname: Ren
authors.forename: Y T
authors.initials: YT
authors.lastname: Zeng
authors.forename: S L
authors.initials: SL
authors.lastname: Woo
mesh_terms: D001483:Base Sequence; D002681:China; D003062:Codon / Q000235:genetics; D005796:Genes; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D015345:Oligonucleotide Probes; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology / Q000235:genetics*; D012016:Reference Values; D014633:Valine
chemical_list: D003062:Codon; D015345:Oligonucleotide Probes; D010651:Phenylalanine Hydroxylase; D014633:Valine