Mutation profiles of phenylketonuria in Quebec populations : evidence of stratification and novel mutations.
Independent phenylketonuria (FKU) chromosomes (n=109) representing 80% of a proband cohort in Quebec province carry 18 different identified mutations in 20 different mutation/haplotype combinations.
The study reported here, the third in a series on Quebec populations, was done in the Montreal region and predominantly on French Canadians.
It has identified three novel mutations (A309D, D338Y, and 1054/1055delG [352fs]) and one unusual mutation/RFLF haplotype combination (E280K on Hp 2).
The relative frequencies and distribution of FKU mutations were then compared in three regions and population subsets (eastern Quebec, French Canadian ; western Quebec, French Canadian ; and Montreal, non-French Canadian).
Mots-clés Pascal : Phénylcétonurie, Mutation, Québec, Canada, Amérique du Nord, Amérique, Epidémiologie, Homme, Métabolisme pathologie, Aminoacidopathie, Système nerveux pathologie, Maladie héréditaire, Enzymopathie
Mots-clés Pascal anglais : Phenylketonuria, Mutation, Quebec, Canada, North America, America, Epidemiology, Human, Metabolic diseases, Aminoacid disorder, Nervous system diseases, Genetic disease, Enzymopathy
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 94-0574438
Code Inist : 002B22D01. Création : 09/06/1995.