title: [Spectrum and methods of detection of mutations in a phenylalanine hydroxylase gene from patients with phenylketonuria from the Novosibirsk region].
abstract: Phenylketonuria (PKU) is a widespread autosome recessive hereditary disease caused by a deficiency of the liver enzyme phenylalanine hydroxylase, which results in the distortion of phenylalanine metabolism and accumulation of toxic metabolites. The knowledge of molecular bases of PKU is of a high social importance as it enables phenotypic correction of the disease in the case of its early diagnostics. This disease is known to be associated with mutations in the phenylalanine hydroxylase gene, the distribution and mutation spectrum having pronounced ethnic and regional features. We studied the spectrum of mutations in the phenylalanine hydroxylase gene in a group of patients with PKU from the Novosibirsk region to reveal 10 missense point mutations, 1 mutation in the splice donor site, and 1 microdeletion. For these mutations, most widely distributed in the region, we used straightforward detection methods based on the restriction fragment length polymorphism (RFLP), artificial constructed restriction sites (ACRS) PCR, and denaturing gradient gel electrophoresis (DGGE).
authors.affiliation: Novosibirsk Institute of Bioorganic Chemistry, Siberian Division, Russian Academy of Sciences, prospect Akad. Lavrent'eva 8, Novosibirsk, 630090 Russia. fatimas@niboch.nsc.ru
authors.forename: F O
authors.initials: FO
authors.lastname: Smagulova
authors.forename: I V
authors.initials: IV
authors.lastname: Morozov
mesh_terms: D006801:Humans; D020125:Mutation, Missense; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017384:Sequence Deletion
chemical_list: D010651:Phenylalanine Hydroxylase