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A modified method for the identification of heterozygotes for Gaucher's disease using differential thermal inactivation
Author(s) -
Goodman Charles,
O'Brien JohnS.
Publication year - 1980
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1980.tb00877.x
Subject(s) - heterozygote advantage , disease , gaucher's disease , genetics , medicine , biology , genotype , gene
We have found heat inactivation of leukocyte 4‐methylumbelliferyl‐β‐D‐glucosidase to be useful in identifying heterozygotes for adult (chronic) Gaucher's disease. The overlap between high heterozygote values and low normal values is reduced by the heat inactivation step, compared to assays without heating; that is from an overlap of 23 % to 6 % . Although preliminary, our results indicate that this procedure may be useful in families with adult (chronic) Gaucher's disease.