Document Detail

Strong founder effect for the fragile X syndrome in Sweden.
MedLine Citation:
PMID:  8044655     Owner:  NLM     Status:  MEDLINE    
We analyzed the FRAXAC2 and DXS548 microsatellites in normal and fragile X chromosomes from Sweden and the Czech Republic in order to investigate a possible founder effect for chromosomes carrying a fragile X mutation. We report a much stronger linkage disequilibrium between the marker haplotypes and the disease in Swedish fragile X chromosomes than in Czech and most other previously studied Caucasian populations. Two haplotypes accounted for 64% of Swedish fragile X chromosomes and for only 14% of normal chromosomes. Neither of these two haplotypes was found in Czech chromosomes, but the most common Swedish fragile X haplotype is the same as that reported to be predominant in Finnish fragile X patients. Linkage disequilibrium was observed in the Czech fragile X chromosomes but the haplotypes were more diverse and similar to those observed in other Caucasian populations. The most prevalent Swedish fragile X haplotype was traced back from affected males to common ancestors in the early 18th century. This indicates an apparently silent segregation of fragile X alleles through up to nine generations. The geographical distribution of the two major at-risk haplotypes in Sweden suggests that they were present among early settlers in different parts of the country.
H Malmgren; K H Gustavson; C Oudet; G Holmgren; U Pettersson; N Dahl
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  2     ISSN:  1018-4813     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  1994  
Date Detail:
Created Date:  1994-08-26     Completed Date:  1994-08-26     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  103-9     Citation Subset:  IM    
Department of Medical Genetics, University of Uppsala, Sweden.
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MeSH Terms
Chi-Square Distribution
Czech Republic / epidemiology
DNA, Satellite / analysis
Fragile X Syndrome / epidemiology*,  genetics*
Gene Frequency
Genetics, Population*
Linkage Disequilibrium
Molecular Epidemiology
Sweden / epidemiology
Reg. No./Substance:
0/DNA, Satellite

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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