title: Microsatellite haplotypes associations with 5 CFTR mutations in "Grande Brière", an isolate located in southern Brittany.
abstract: The variability at three microsatellites in the Cystic Fibrosis Transmembrane Conductance Regulator Gene (CFTR) locus has been studied for frequent mutations encountered in an isolated population of "Grande Brière", a small region located in Southern Brittany. Fluorescent multiplex PCR of these microsatellites were assayed in 16 Cystic Fibrosis (CF) families carrying 5 different mutations. The four most frequent haplotypes on df508 chromosomes were the same as those found in Northern France and Europe but the distribution of these haplotypes provides new enlightenment on the population origin of this insular community.
authors.affiliation: Service de Génétique Médicale, C.H.U, Nantes, France.
authors.forename: S
authors.initials: S
authors.lastname: Bezieau
authors.forename: G
authors.initials: G
authors.lastname: Picherot
authors.forename: A
authors.initials: A
authors.lastname: David
authors.forename: M
authors.initials: M
authors.lastname: De Braekeleer
authors.forename: C
authors.initials: C
authors.lastname: Ferec
authors.forename: J P
authors.initials: JP
authors.lastname: Moisan
authors.forename: A
authors.initials: A
authors.lastname: Chaventré
mesh_terms: D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005602:France; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator