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Collegium antropologicum, Vol. 24 No. 2, 2000.

Original scientific paper

Associations with 5 CFTR Mutations in »Grande Brière«, an Isolate Located in Southern Brittany

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

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page 281-286

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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.

Keywords

Hrčak ID:

10016

URI

https://hrcak.srce.hr/10016

Publication date:

16.12.2000.

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