The French Canadian Tay-Sachs Disease Deletion Mutation : Identification of Probable Founders

Braekeleer, M.;Hechtman, P.;Andermann, E.;Kaplan, F.

From Brakeleer et al: "Tay-Sachs disease (TSD) is an inherited neurodegenerative ganglioside storage disorder caused by deficiency of the hexosaminidase A enzyme. A deletion allele (FCD) at the HEXA locus has attained high frequency in the French Canadian population. The distribution of affected probands shows a likely center of diffusion for this mutation located in the Bas-St.-Laurent and Gaspésie regions of the province of Quebec. We have reconstructed the genealogies of 15 obligate carriers of the FCD allele to an average depth of 12 generations identifying 60 ancestors and 80 European founders common to all of them..."

1992-04-00

en

Journal Article

1650-1990; Bas-St-Laurent, Gaspésie, Québec

Human Genetics

89