Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec.

doi:10.1007/s00439-005-1298-8

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Article

Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec.

Human genetics - 1 Jul 2005

Yotova Vania, Labuda Damian, Zietkiewicz Ewa, Gehl Dominik, Lovell Alan, Lefebvre Jean-François, Bourgeois Stéphane, Lemieux-Blanchard Emilie, Labuda Marcin, Vézina Hélène, Houde Louis, Tremblay Marc, Toupance Bruno, Heyer Evelyne, Hudson Thomas J, Laberge Claude

Abstract excerpt

Founder effects are largely responsible for changes in frequency profiles of genetic variants in local populations or isolates. They are often recognized by elevated incidence of certain hereditary disorders as observed in regions of Charlevoix and Saguenay-Lac-Saint-Jean (SLSJ) in Northeastern Quebec. Dominantly transmitted myotonic dystrophy (DM1) is highly prevalent in SLSJ where its carrier rate reaches...

Topics

Alleles
Female
Founder Effect
Haplotypes
Heterozygote
Humans
Male
Microsatellite Repeats
Mutation
Myotonic Dystrophy
Polymorphism, Single Nucleotide
Quebec

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PMID: 15883838
DOI: 10.1007/s00439-005-1298-8

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