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Article

More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians.

American journal of human genetics - 1 Nov 1990

Hechtman P, Kaplan F, Bayleran J, Boulay B, Andermann E, de Braekeleer M, Melançon S, Lambert M, Potier M, Gagné R

Abstract excerpt

Two Tay-Sachs disease (TSD) patients of French-Canadian origin were shown by Myerowitz and Hogikyan to be homozygous for a 7.6-kb deletion mutation at the 5' end of the hexosaminidase A alpha-subunit gene. In order to determine whether all French-Canadian TSD patients were homozygotes for the deletion allele and to assess the geographic origins of TSD in this population, we ascertained 12 TSD families of...

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PMID: 2220821
PMCID: PMC1683681

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