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PMID: 3124612 Published · ppublish English Case Reports Journal Article

Selection in favor of lysosomal storage disorders?

American journal of human genetics ·Vol. 42 ·No. 2 ·1988-02-00 ·Pages 271-3

Zlotogora J, Zeigler M, Bach G

Abstract

Four examples of Israeli communities or large families in which high consanguinity is common are presented, with two different lysosomal storage disorders within each community. In each of the four cases the stored substances share common chemical structure, despite the different lysosomal hydrolases involved in each disease. A similar phenomenon is known among the Ashkenazi Jews, in whom four of the most frequent hereditary disorders are lysosomal storage disorders, which are characterized by storage of sphingolipid derivatives. Similar findings are reported in the literature in other communities. We suggest that this phenomenon indicates a selection in favor of lysosomal storage disorders of similar nature in certain populations. The selection forces leading to this phenomenon have not been identified yet, and it has not yet been determined whether these forces are the same in the different communities presented here.

MeSH Terms
Consanguinity Female Gangliosidoses/genetics Humans Infant Israel Leukodystrophy, Globoid Cell/genetics Leukodystrophy, Metachromatic/genetics Male Metabolism, Inborn Errors/genetics Mucopolysaccharidoses/genetics Pedigree Selection, Genetic alpha-Mannosidosis/genetics
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Zlotogora J
Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel.
Zeigler M
Bach G
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1988-02-00
Pages
271-3
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1715247
Subset
IM
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