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  • Title: RFLP-discordance within the human phenylalanine hydroxylase locus.
    Author: Riess O, Michel A, Berger W, Nürnberg P, Epplen JT, Speer A, Coutelle C.
    Journal: Hum Genet; 1989 Sep; 83(2):199-201. PubMed ID: 2570742.
    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.
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