PMCCPMCCPMCC

Search tips
Search criteria 

Advanced

 
Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
 
J Med Genet. 1989 August; 26(8): 499–503.
PMCID: PMC1015671

Identification of the haplotype pattern associated with the mutant PKU allele in the Gypsy population of Wales.

Abstract

Using the full length cDNA probe, the RFLP haplotype patterns at the phenylalanine hydroxylase locus have been studied in the extensive and highly consanguineous Welsh Gypsy population. The pattern associated with the mutant PKU allele is identical to haplotype 4 in the northern European population. Two children with classical PKU are homozygous for this haplotype. We have tracked the mutant allele through four generations to a great grandfather who died 22 years ago. Both affected children almost certainly have inherited a double dose of the same mutant PKU allele from one common ancestor. It should be possible to identify the specific mutation that is associated with haplotype 4 which results in the more serious form of PKU.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (599K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Williams EM, Harper PR. Genetic study of Welsh gypsies. J Med Genet. 1977 Jun;14(3):172–176. [PMC free article] [PubMed]
  • Kwok SC, Ledley FD, DiLella AG, Robson KJ, Woo SL. Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry. 1985 Jan 29;24(3):556–561. [PubMed]
  • DiLella AG, Kwok SC, Ledley FD, Marvit J, Woo SL. Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene. Biochemistry. 1986 Feb 25;25(4):743–749. [PubMed]
  • Lidsky AS, Ledley FD, DiLella AG, Kwok SC, Daiger SP, Robson KJ, Woo SL. Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria. Am J Hum Genet. 1985 Jul;37(4):619–634. [PubMed]
  • Chakraborty R, Lidsky AS, Daiger SP, Güttler F, Sullivan S, Dilella AG, Woo SL. Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria. Hum Genet. 1987 May;76(1):40–46. [PubMed]
  • Güttler F, Ledley FD, Lidsky AS, DiLella AG, Sullivan SE, Woo SL. Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria. J Pediatr. 1987 Jan;110(1):68–71. [PubMed]
  • Aulehla-Scholz C, Vorgerd M, Sautter E, Leupold D, Mahlmann R, Ullrich K, Olek K, Horst J. Phenylketonuria: distribution of DNA diagnostic patterns in German families. Hum Genet. 1988 Apr;78(4):353–355. [PubMed]
  • Lichter-Konecki U, Schlotter M, Konecki DS, Labeit S, Woo SL, Trefz FK. Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population. Hum Genet. 1988 Apr;78(4):347–352. [PubMed]
  • Rey F, Berthelon M, Caillaud C, Lyonnet S, Abadie V, Blandin-Savoja F, Feingold J, Saudubray JM, Frézal J, Munnich A, et al. Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France. Am J Hum Genet. 1988 Dec;43(6):914–921. [PubMed]
  • Riess O, Michel A, Speer A, Meiske W, Cobet G, Coutelle C. Linkage disequilibrium between RFLP haplotype 2 and the affected PAH allele in PKU families from the Berlin area of the German Democratic Republic. Hum Genet. 1988 Apr;78(4):343–346. [PubMed]
  • DiLella AG, Marvit J, Lidsky AS, Güttler F, Woo SL. Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. Nature. 322(6082):799–803. [PubMed]
  • DiLella AG, Marvit J, Brayton K, Woo SL. An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. Nature. 327(6120):333–336. [PubMed]
  • Lichter-Konecki U, Konecki DS, DiLella AG, Brayton K, Marvit J, Hahn TM, Trefz FK, Woo SL. Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene. Biochemistry. 1988 Apr 19;27(8):2881–2885. [PubMed]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group