Summary
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.
This is a preview of subscription content, log in via an institution to check access.
References
Daiger SP, Lidsky AS, Chakraborty R, Koch R, Güttler F, Woo SLC (1986) Effective use of polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria Lancet I:229–231
Davies KE, Speer A, Herrmann F, Spiegler AWJ, McGlade S, Hofker MH, Briand P, Hanke R, Schwartz M, Steinbicker V, Szibor R, Körner H, Somme D, Pearson PL Coutelle C (1985) Human X-chromosome markers and Duchenne muscular dystrophy. Nucleic Acids Res 13:3419–3426
DiLella AG, Kwok SCM, Ledley FD, Marvit J, Woo SLC (1986) Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene. Biochemistry 25:743–749
Evett IW, Werret DJ, Buckleton JS (1989) Paternity calculations from DNA multilocus profiles. J Forensic Sci Soc (in press)
Horsthemke B, Beisiegel U, Dunning A, Havinga JA, Williamson R, Humphries S (1987) Unequal crossing-over between two alurepetitive DNA sequences in the low-density-lipoprotein-receptor gene. Eur J Biochem 164:77–81
Schäfer R, Zischler H, Birsner U, Becker A, Epplen JT (1988) Optimized oligonucleotide probes for DNA fingerprinting. Electrophoresis 9:369–374
Speer A, Riess O, Cobet G, Hanke R, Dahl HH, Cotton RGH, Coutelle C (1986) Typing of families with classical phenylketonuria using three alleles of the HindIII linked restriction fragment length polymorphism, detectable with a phenylalanine hydroxylase cDNA probe. Clin Genet 29:491–495
Weatherall DJ, Old JM, Thein SL, Wainscoat JS Clegg JB (1985) Prenatal diagnosis of the common haemoglobin disorders. J Med Genet 22:422–430
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Riess, O., Michel, A., Berger, W. et al. RELP-discordance within the human phenylalanine hydroxylase locus. Hum Genet 83, 199–201 (1989). https://doi.org/10.1007/BF00286719
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00286719