title: Beta-thalassemia in the indigenous population of Brittany: identification of three rare mutations.
abstract: Beta-thalassemia mutations were determined in ten Breton probands using a reverse-hybridization method or denaturing gradient gel electrophoresis and sequencing. Six different mutations were found: three from the Mediterranean area and three rare. Mutations responsible for beta-thalassemia in Brittany are quite heterogeneous. The mutation in the initiation codon ATG-->ACG was found in four families and may result from an ancient founder effect, as suggested by the haplotype analysis.
authors.forename: Déborah
authors.initials: D
authors.lastname: Jamet
authors.forename: Serge
authors.initials: S
authors.lastname: Pissard
authors.forename: Marie-Thérèse
authors.initials: MT
authors.lastname: Blouch
authors.forename: Christian
authors.initials: C
authors.lastname: Berthou
authors.forename: Marc
authors.initials: M
authors.lastname: De Braekeleer
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Abgrall
mesh_terms: D005260:Female; D005602:France; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D019083:Mediterranean Region / Q000453:epidemiology; D009154:Mutation; D044382:Population Groups / Q000235:genetics*; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*