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Frequency of carriers of chronic (type I) Gaucher disease in Ashkenazi Jews

✍ Scribed by Maloth, Yehuda ;Chazan, Sara ;Cnaan, Avital ;Gelernter, Ilana ;Klibansky, Chaya ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1987
Tongue: English
Weight: 305 KB
Volume: 27
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320270309

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✦ Synopsis

In this study we estirnate the frequency of carriers of chronic (type 1) Gaucher disease among Ashkenazi Jews by exarnining the glucocerebrosidase activity in leukocytes in a population of 635 blood donors (441 Ashkenazi) and 57 obligatory heterozygotes. Estimation using the defect in the enzyme glucocerebrosidase (beta-glucosidase) in leukocytes is complicated by the existence of considerable overlap between enzyrne activity in norrnals and in heterozygotes. The assay was carried out with a natural substrate labeled with I4C. Discrirninant analysis was used to establish an optirnal cutoff point between the obligatory heterozygotes and normal (non-Ashkenazi) subjects for the purpose of estirnating frequency of carriers. Applied to the Ashkenazi group, the cutoff point identified 3.17 % as heterozygotes. Corrected for errors in classification, the carrier rate was estirnated as 4.67%. This figure is in good agreement with a carrier rate of 4% estimated from the nurnber of known cases of clinical Gaucher disease ascertained in Israel.

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