Details

Autor(en) / Beteiligte

• RIESS, O
• MICHEL, A
• BERGER, W
• NÜRNBERG, P
• EPPLEN, J. T
• SPEER, A
• COUTELLE, C

Titel

RFLP-discordance within the human phenylalanine hydroxylase locus

Ist Teil von

• Human genetics, 1989-09, Vol.83 (2), p.199-201

Ort / Verlag

Heidelberg: Springer

Erscheinungsjahr

1989

Link zum Volltext

Quelle

SpringerLink (Online service)

Beschreibungen/Notizen

• 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.