S. Bezieau et al., Microsatellite haplotypes associations with 5 CFTR mutations in >> Grande Briere <<, an isolate located in Southern Brittany, COLL ANTROP, 24(2), 2000, pp. 281-286
The variability at three microsatellites in the Cystic Fibrosis Transmembra
ne Conductance Regulator Gene (CFTR) locus has been studied for frequent mu
tations encountered in an isolated population of "Grande Briere" a small re
gion located in Southern Brittany. Fluorescent multiplex PCR of these micro
satellites were assayed in 16 Cystic Fibrosis (CF) families carrying 5 diff
erent mutations. The four most frequent haplotypes on df508 chromosomes wer
e the same as those found in Northern France and Europe but the distributio
n of these haplotypes provides new enlightenment on the population origin o
f this insular community.