title: RFLP-discordance within the human phenylalanine hydroxylase locus.
abstract: A search for crossover events was performed in seven families with two phenylketonuria-affected children applying seven enzymes for the detection of eight restriction fragment length polymorphisms (RFLPs) by hybridisation with a human phenylalanine hydroxylase (PAH) cDNA probe. A discordance was detected within the PvuIIb-RFLP pattern of two affected sibs. This observation is most likely the result of a cross-over event in the PAH locus. Alternative explanations are discussed. Non-paternity could be excluded by DNA fingerprinting using the oligonucleotide probe (GTG)5.
authors.affiliation: Institut für Medizinische Genetik, Humboldt Universität, Berlin, German Democratic Republic.
authors.forename: O
authors.initials: O
authors.lastname: Riess
authors.forename: A
authors.initials: A
authors.lastname: Michel
authors.forename: W
authors.initials: W
authors.lastname: Berger
authors.forename: P
authors.initials: P
authors.lastname: Nürnberg
authors.forename: J T
authors.initials: JT
authors.lastname: Epplen
authors.forename: A
authors.initials: A
authors.lastname: Speer
authors.forename: C
authors.initials: C
authors.lastname: Coutelle
mesh_terms: D003434:Crossing Over, Genetic; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D015342:DNA Probes; D004247:DNA; D010651:Phenylalanine Hydroxylase