Document Detail

Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene.
MedLine Citation:
PMID:  11895778     Owner:  NLM     Status:  MEDLINE    
Inherited factor XI deficiency is an injury-related bleeding disorder that is rare in most populations except for Jews, in whom 2 mutations, a stop mutation in exon 5 (type II) and a missense mutation in exon 9 (type III), predominate. Recently, a cluster of 39 factor XI-deficient patients was described in the Basque population of Southwestern France. In this study, we determined the molecular basis of factor XI deficiency in 16 patients belonging to 12 unrelated families of French Basque origin. In 8 families, a nucleotide 209T>C transition in exon 3 was detected that predicts a Cys38Arg substitution. Four additional novel mutations in the factor XI gene, Cys237Tyr, Tyr493His, codon 285delG, and IVS6 + 3A>G, were identified in 4 families. Expression studies showed that Cys38Arg and Cys237Tyr factor XI were produced in transfected baby hamster kidney cells, but their secretion was impaired. Cells transfected with Tyr493His contained reduced amounts of factor XI and displayed decreased secretion. A survey of 206 French Basque controls for Cys38Arg revealed that the prevalence of the mutant allele was 0.005. Haplotype analysis based on the study of 10 intragenic polymorphisms was consistent with a common ancestry (a founder effect) for the Cys38Arg mutation.
Ariella Zivelin; Frederic Bauduer; Louis Ducout; Hava Peretz; Nurit Rosenberg; Rivka Yatuv; Uri Seligsohn
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Blood     Volume:  99     ISSN:  0006-4971     ISO Abbreviation:  Blood     Publication Date:  2002 Apr 
Date Detail:
Created Date:  2002-03-15     Completed Date:  2002-05-02     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  7603509     Medline TA:  Blood     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2448-54     Citation Subset:  AIM; IM    
Institute of Thrombosis and Hemostasis, Chaim Sheba Medical Center, Tel-Hashomer 52621, Israel.
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MeSH Terms
Amino Acid Substitution
Blotting, Western
Cell Line
Child, Preschool
DNA / blood,  genetics
Ethnic Groups / genetics
Factor XI / genetics*,  metabolism
Factor XI Deficiency / genetics*
Middle Aged
Mutation, Missense*
Polymerase Chain Reaction
Polymorphism, Genetic*
Recombinant Proteins / metabolism
Reg. No./Substance:
0/Recombinant Proteins; 52-90-4/Cysteine; 74-79-3/Arginine; 9007-49-2/DNA; 9013-55-2/Factor XI

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

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