RFLP-discordance within the human phenylalanine hydroxylase locus.
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.
Riess
O
O
Institut für Medizinische Genetik, Humboldt Universität, Berlin, German Democratic Republic.
Michel
A
A
Berger
W
W
Nürnberg
P
P
Epplen
J T
JT
Speer
A
A
Coutelle
C
C
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
D015342:DNA Probes; D004247:DNA; D010651:Phenylalanine Hydroxylase