Associations with 5 CFTR Mutations in »Grande Brière«, an Isolate Located in Southern BrittanyReportar como inadecuado




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

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.



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

Fuente: http://hrcak.srce.hr/



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