The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders.

doi:10.1007/BF00207048

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Article

The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders.

Human genetics - 1 Apr 1992

De Braekeleer M, Hechtman P, Andermann E, Kaplan F

Abstract excerpt

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...

Topics

Alleles
Chromosome Deletion
Female
Heterozygote
Hexosaminidases
Humans
Male
Mutation
Pedigree
Quebec
Tay-Sachs Disease

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