title: Frequency of the IVS-10nt546 mutation in 44 Turkish phenylketonuria patients.
abstract: The newly identified point mutation in intron 10 of the phenylalanine hydroxylase gene activates a cryptic splice site and results in an in-frame insertion of nine nucleotides between exons 10 and 11 of the processed transcript. This mutation is observed in association with haplotype 6 of phenylketonuria chromosomes. Since in Turkey, haplotype 6 is observed in 40 percent of mutant phenylketonuria alleles, the aim of this study was to establish the incidence of this particular mutation. Forty-four classical phenylketonuria patients were studied and the frequency of the intron 10 splicing mutation was determined to be 31 percent.
authors.affiliation: Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara.
authors.forename: M
authors.initials: M
authors.lastname: Ozgüç
authors.forename: I
authors.initials: I
authors.lastname: Ozalp
authors.forename: T
authors.initials: T
authors.lastname: Coşkun
authors.forename: E
authors.initials: E
authors.lastname: Yilmaz
authors.forename: H
authors.initials: H
authors.lastname: Erdem
authors.forename: S
authors.initials: S
authors.lastname: Ayter
mesh_terms: D000483:Alleles; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007438:Introns; D008297:Male; D009154:Mutation / Q000235:genetics*; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D014421:Turkey
chemical_list: D010651:Phenylalanine Hydroxylase