A modified method for the identification of heterozygotes for Gaucher's disease using differential thermal inactivation.
We have found heat inactivation of leukocyte 4-methylumbelliferyl-beta-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.
D002908:Chronic Disease; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000235:genetics; D006580:Genetic Carrier Screening / Q000379:methods*; D005959:Glucosidases / Q000032:analysis*; D006026:Glycoside Hydrolases / Q000378:metabolism; D006358:Hot Temperature; D006801:Humans; D006923:Hymecromone / Q000032:analysis; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D010375:Pedigree; D001617:beta-Glucosidase / Q000032:analysis*
D006923:Hymecromone; C021791:4-methylumbelliferyl-beta-glucosidase; D005959:Glucosidases; D006026:Glycoside Hydrolases; D001617:beta-Glucosidase