Document Detail


Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype.
MedLine Citation:
PMID:  8981953     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We have studied the ethnic distribution of the fragile X syndrome in Israel and have found that 36/136 (26.5%) of apparently unrelated pedigrees were of Tunisian Jewish descent. The Tunisian Jews, however, constitute only 2%-3% of the general Israeli population, identifying the first ethnic group significantly (P < .001) predisposed to the development of this disease. Associated with this increase in disease prevalence, we have found an unusually high incidence of FMR1 CGG repeats devoid of AGG interruptions among the normal Tunisian Jewish population (30/150, or 20.0%). Furthermore, the proportion of these alleles beyond the FMR1 CGG repeat instability threshold (>35 repeats) (8/150, or 5.3%) was significantly greater (P < .04) than that proportion found among non-Tunisian Jewish controls in Israel (1/136). Haplotype analysis has indicated that these large uninterrupted CGG repeat alleles are present on a previously unreported (DXS548-FRAXAC1-FRAXAC2) haplotype that accounts for all observed cases of disease among Tunisian Jewish X chromosomes. The high prevalence of disease among Tunisian Jews, we suggest, is due to a founder effect of this rare haplotype, which is completely devoid of AGG interruptions in the Jewish population of Tunisia.
Authors:
T C Falik-Zaccai; E Shachak; M Yalon; Z Lis; Z Borochowitz; J N Macpherson; D L Nelson; E E Eichler
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of human genetics     Volume:  60     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1997 Jan 
Date Detail:
Created Date:  1997-01-23     Completed Date:  1997-01-23     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  103-12     Citation Subset:  IM    
Affiliation:
Simon Winter Institute for Human Genetics, Bnai-Zion Medical Center, Haifa.
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MeSH Terms
Descriptor/Qualifier:
Arabs / genetics
Female
Fragile X Syndrome / epidemiology,  ethnology*,  genetics*
Haplotypes*
Humans
Israel / epidemiology
Jews / genetics*
Male
Prevalence
Trinucleotide Repeats
Tunisia
Grant Support
ID/Acronym/Agency:
GM52982/GM/NIGMS NIH HHS; HD29256/HD/NICHD NIH HHS
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