Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec

  title={Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec},
  author={Vania Yotova and Damian Labuda and E Zietkiewicz and Dominik Gehl and Alan D Lovell and Jean-François Lefebvre and St{\'e}phane Bourgeois and {\'E}milie Lemieux-Blanchard and Marcin Labuda and H{\'e}l{\`e}ne V{\'e}zina and Louis Houde and Marc A. Tremblay and Bruno Toupance and Evelyne Heyer and Thomas J. Hudson and Claude A. Laberge},
  journal={Human Genetics},
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 1/550, compared with 1/5,000 to 1/50,000 elsewhere. To shed light on the origin of DM1… CONTINUE READING


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