title: A simplified method for detection of the mutations predominantly causing cystic fibrosis and phenylketonuria in Polish families.
abstract: Genomic DNA was isolated from dried blood specimens and subsequently used as a template in simplified PCR-based detection assays of delta F508 mutation of CFTR gene and of R408W mutation of PAH gene in families with cystic fibrosis and phenylketonuria, respectively. Products of amplification of CFTR gene were analyzed in NuSieve agarose gel. The amplification-created restriction site with TaqI digestion was used for detection of the PAH gene mutation.
authors.affiliation: Institute of Human Genetics, Polish Academy of Sciences, Poznan.
authors.forename: M
authors.initials: M
authors.lastname: Witt
authors.forename: J
authors.initials: J
authors.lastname: Jaruzelska
authors.forename: I
authors.initials: I
authors.lastname: Kuczora
authors.forename: R
authors.initials: R
authors.lastname: Matuszak
authors.forename: W
authors.initials: W
authors.lastname: Cichy
authors.forename: K
authors.initials: K
authors.lastname: Borski
mesh_terms: D001483:Base Sequence; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000737:chemistry / Q000302:isolation & purification; D017931:DNA Primers / Q000737:chemistry; D004587:Electrophoresis, Agar Gel; D004591:Electrophoresis, Polyacrylamide Gel; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation; D011044:Poland; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: D017931:DNA Primers; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA; D010651:Phenylalanine Hydroxylase