title: Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation.
abstract: A modified application of the chemical cleavage of mismatch (CCM) method has been used to screen three contiguous exons (exons 9, 10, and 11) of the phenylalanine hydroxylase gene in 17 Italian PKU patients. A new nonsense heterozygous C-->G transversion within exon 11 (S359X) was identified in a single patient. Only one of the four mutations previously reported in this DNA region in Caucasians was found. This lesion, IVS X-546, was detected in five of the 34 PKU alleles examined. Our results underline the versatility of the CCM method for scanning a gene for multiple mutations.
authors.affiliation: Istituto di Clinica Pediatrica, Università degli Studi di Torino, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Dianzani
authors.forename: C
authors.initials: C
authors.lastname: Camaschella
authors.forename: G
authors.initials: G
authors.lastname: Saglio
authors.forename: G B
authors.initials: GB
authors.lastname: Ferrero
authors.forename: S
authors.initials: S
authors.lastname: Ramus
authors.forename: A
authors.initials: A
authors.lastname: Ponzone
authors.forename: R G
authors.initials: RG
authors.lastname: Cotton
mesh_terms: D001482:Base Composition; D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis; D015342:DNA Probes; D005091:Exons / Q000235:genetics*; D006801:Humans; D015151:Immunoblotting; D008969:Molecular Sequence Data; D009693:Nucleic Acid Hybridization; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017422:Sequence Analysis, DNA
chemical_list: D003062:Codon; D015342:DNA Probes; D010651:Phenylalanine Hydroxylase