NDLI: Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.

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Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.

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Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Cohen, I. J. Maire, I. Risch, N. Frisch, A. Poenaru, L. Gelb, B. D. Weizberg, M. Nygaard, T. G. Diaz, G. A. Amaral, O. Caillaud, C. Desnick, R. J. Miranda, C. S. Mistry, P.
Spatial Coverage	Europe
Description	Country affiliation: United States Author Affiliation: Diaz GA ( Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA.)
Abstract	Type 1 Gaucher disease (GD), a non-neuronopathic lysosomal storage disorder, results from the deficient activity of acid beta-glucosidase (GBA). Type 1 disease is panethnic but is more prevalent in individuals of Ashkenazi Jewish (AJ) descent. Of the causative GBA mutations, N370S is particularly frequent in the AJ population, (q approximately .03), whereas the 84GG insertion (q approximately .003) occurs exclusively in the Ashkenazim. To investigate the genetic history of these mutations in the AJ population, short tandem repeat (STR) markers were used to map a 9.3-cM region containing the GBA locus and to genotype 261 AJ N370S chromosomes, 60 European non-Jewish N370S chromosomes, and 62 AJ 84GG chromosomes. A highly conserved haplotype at four markers flanking GBA (PKLR, D1S1595, D1S2721, and D1S2777) was observed on both the AJ chromosomes and the non-Jewish N370S chromosomes, suggesting the occurrence of a founder common to both populations. Of note, the presence of different divergent haplotypes suggested the occurrence of de novo, recurrent N370S mutations. In contrast, a different conserved haplotype at these markers was identified on the 84GG chromosomes, which was unique to the AJ population. On the basis of the linkage disequilibrium (LD) delta values, the non-Jewish European N370S chromosomes had greater haplotype diversity and less LD at the markers flanking the conserved haplotype than did the AJ N370S chromosomes. This finding is consistent with the presence of the N370S mutation in the non-Jewish European population prior to the founding of the AJ population. Coalescence analyses for the N370S and 84GG mutations estimated similar coalescence times, of 48 and 55.5 generations ago, respectively. The results of these studies are consistent with a significant bottleneck occurring in the AJ population during the first millennium, when the population became established in Europe.
ISSN	00029297
e-ISSN	15376605
Journal	The American Journal of Human Genetics
Issue Number	6
Volume Number	66
Language	English
Publisher	Cell Press (on behalf of American Society of Human Genetics)
Publisher Date	2000-06-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Founder Effect Gaucher Disease Genetics Glucosylceramidase Jews Mutation, Missense Algorithms Amino Acid Substitution Chromosome Mapping Conserved Sequence Enzymology Gene Frequency Genetic Markers Haplotypes Linkage Disequilibrium Tandem Repeat Sequences Time Factors Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, P.h.s. Discipline Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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