Beta-thalassemia in the indigenous population of Brittany: identification of three rare mutations.
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.
Jamet
Déborah
D
Pissard
Serge
S
Blouch
Marie-Thérèse
MT
Berthou
Christian
C
De Braekeleer
Marc
M
Abgrall
Jean-François
JF
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*