Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

Gaucher disease is the most prevalent inherited disease among Ashkenazi Jews. It is very heterogeneous due to a large number of mutations within the glucocerebrosidase gene, whose impaired activity is the cause for this disease. Aiming at determining Gaucher carrier frequency among the Ashkenazi Jew...

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Bibliographic Details
Published in:	Human mutation Vol. 12; no. 4; pp. 240 - 244
Main Authors:	Horowitz, Mia, Pasmanik-Chor, Metsada, Borochowitz, Zvi, Falik-Zaccai, Tzipora, Heldmann, Keren, Carmi, Rivka, Parvari, Ruth, Beit-Or, Hannah, Goldman, Boleslav, Peleg, Lea, Levy-Lahad, Ephrat, Renbaum, Paul, Legum, Searl, Shomrat, Ruth, Yeger, Hannah, Benbenisti, Dalit, Navon, Ruth, Dror, Vardit, Shohat, Mordechai, Magal, Nurit, Navot, Nir, Eyal, Nurit
Format:	Journal Article
Language:	English
Published:	New York Wiley Subscription Services, Inc., A Wiley Company 1998 Hindawi Limited
Subjects:	Ashkenazi Jews Cells, Cultured detection kit Female Fibroblasts Gaucher disease Gaucher Disease - enzymology Gaucher Disease - genetics Gene Frequency Genetic Carrier Screening Genetic Testing glucocerebrosidase Glucosylceramidase - genetics Glucosylceramidase - metabolism Humans Israel Jews - genetics Male Molecular Probe Techniques Mutation - genetics mutations Penetrance Polymerase Chain Reaction - methods Sensitivity and Specificity
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Summary:	Gaucher disease is the most prevalent inherited disease among Ashkenazi Jews. It is very heterogeneous due to a large number of mutations within the glucocerebrosidase gene, whose impaired activity is the cause for this disease. Aiming at determining Gaucher carrier frequency among the Ashkenazi Jewish population in Israel, 1,208 individuals were molecularly diagnosed for six mutations known to occur among Ashkenazi Jewish Gaucher patients, using the newly developed Pronto™ Gaucher kit. The following mutations were tested: N370S, 84GG, IVS2+1, D409H, L444P, and V394L. Molecular testing of these mutations also allows identification of the recTL allele. The results indicated that Gaucher carrier frequency is 1:17 within the tested population. The prevalence of N370S carriers is 1:17.5. This implies that ˜1:1225 Ashkenazi Jews will be homozygous for the N370S mutation. Actually, in our study of 1,208 individuals one was found to be homozygous for the N370S mutation. The actual number of known Ashkenazi Jewish Gaucher patients with this genotype is much lower than that expected according to the frequency of the N370S mutation, suggesting a low penetrance of this mutation. Results of loading experiments in cells homozygous for the N370S mutation, as well as cells homozygous for the L444P and the D409H mutations, exemplified this phenomenon. Hum Mutat 12:240–244, 1998. © 1998 Wiley‐Liss, Inc.
Bibliography:	istex:7F3922B54166E58E9DC7C3D2E403648E951CD943 ArticleID:HUMU4 ark:/67375/WNG-1VCVWCSZ-7 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1059-7794 1098-1004
DOI:	10.1002/(SICI)1098-1004(1998)12:4<240::AID-HUMU4>3.0.CO;2-J