Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine ... View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1991-02

AUTHORS

Monique Berthelon, Catherine Caillaud, Françoise Rey, Philippe Labrune, Dominique Melle, Josué Feingold, Jean Frézal, Marie-Louise Briard, Jean-Pierre Farriaux, Pierre Guibaud, Hubert Journel, Bernard Le Marec, Nicole Maurin, Jean-Louis Nivelon, Henri Plauchu, Jean-Marie Saudubray, Philippe Tron, Jean Rey, Arnold Münnich, Stanislas Lyonnet

ABSTRACT

A total of 252 chromosomes from 126 patients with phenylalanine hydroxylase (PAH) deficiencies were analyzed for both mutant genotypes and restriction fragment length polymorphism (RFLP) haplotypes at the PAH locus. The mutant genes studied originated either from Western Europe (116 alleles) or from Mediterranean countries (136 alleles). Only 27% of all mutant alleles were found to carry identified mutations, particularly mutations at codon 252 (2.3%), 261 (7.5%), 280 (6.3%), 408 (3.5%) and at the splice donor site of intron 12 (6.3%). The mutant genotypes were associated with RFLP haplotypes 7, 1, 38, 2 and 3 at the PAH locus respectively. Except for the splice mutation of intron 12, these associations were preferential, but not exclusive, since the other four mutations were found on the background of at least two RFLP haplotypes. These results, together with the observation that 85% of PAH deficient patients are heterozygotes for their mutant genotypes, emphasize the great heterogeneity of PAH deficiencies in Mediterranean countries and hamper systematic DNA testing for carrier status in this population. More... »

PAGES

355-358

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00201832

DOI

http://dx.doi.org/10.1007/bf00201832

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1032286975

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/1671847


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306 https://www.grid.ac/institutes/grid.418451.d schema:alternateName Château de Longchamp
307 schema:name Unité de Recherches de Génétique Epidémiologique — INSERM U.155, Chateau de Longchamp, F-75016, Paris, France
308 rdf:type schema:Organization
 




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