Microsatellite haplotypes associations with 5 CFTR mutations in "Grande Brière", an isolate located in southern Brittany.

Bezieau, S; Picherot, G; David, A; De Braekeleer, M; Ferec, C; Moisan, J P; Chaventré, A

Bezieau, S; Picherot, G; David, A; De Braekeleer, M; Ferec, C; Moisan, J P; Chaventré, A.

Afiliación

Bezieau S; Service de Génétique Médicale, C.H.U, Nantes, France.

Coll Antropol ; 24(2): 281-6, 2000 Dec.

Article en En | MEDLINE | ID: mdl-11216394

RESUMEN

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.

Asunto(s)

Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética; Genética de Población; Repeticiones de Microsatélite/genética; Análisis Mutacional de ADN; Francia; Haplotipos; Humanos; Linaje; Reacción en Cadena de la Polimerasa

Buscar en Google

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Repeticiones de Microsatélite / Regulador de Conductancia de Transmembrana de Fibrosis Quística / Genética de Población Tipo de estudio: Risk_factors_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Coll Antropol Año: 2000 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Croacia

Buscar en Google

Añadir a Mi BVS

Imprimir

XML

PubMed Links