The French Canadian Tay-Sachs Disease Deletion Mutation : Identification of Probable Founders
Dublin Core
Title
The French Canadian Tay-Sachs Disease Deletion Mutation : Identification of Probable Founders
Description
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..."
Creator
Braekeleer, M.
Hechtman, P.
Andermann, E.
Kaplan, F.
Date
1992-04-00
Language
en
Type
Journal Article
Identifier
2699217 (full journal)
Coverage
1650-1990; Bas-St-Laurent, Gaspésie, Québec
Contribution Form
Online Submission
No
Zotero
DOI
10.1007/BF00207048
ISSN
0340-6717
Issue
#1
Pages
83-87
Publication Title
Human Genetics
URL
Human Genetics (journal website)
Volume
89