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Blood, 15 October 2004, Vol. 104, No. 8, pp. 2394-2396. Prepublished online as a Blood First Edition Paper on June 29, 2004; DOI 10.1182/blood-2004-04-1318. This Article Full Text (PDF) All Versions of this Article: 2004-04-1318v1 104/8/2394    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Mitchell, M. J Articles by Alhaq, A. Search for Related Content PubMed PubMed Citation Articles by Mitchell, M. J Articles by Alhaq, A. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted April 15, 2004 Accepted June 4, 2004 An Alu-mediated 31.5 kb deletion as the cause of Factor XI deficiency in two unrelated patients Michael J Mitchell*, Letian Dai, Geoffrey F Savidge, and Anwar Alhaq Centre for Haemostasis and Thrombosis, Haemophilia Reference Centre, Guy's and St. Thomas' Healthcare Trust, London, United Kingdom * Corresponding author; email: Mike.Mitchell{at}gstt.sthames.nhs.uk. Factor XI deficiency (MIM 264900) is an autosomal bleeding disorder of variable severity. Inheritance is not completely recessive as heterozygotes may display a distinct, if mild, bleeding tendency. Recent studies have shown the causative mutations of Factor XI deficiency, outside the Ashkanazi Jewish population, to be highly heterogeneous. We studied thirty-nine consecutively referred patients with factor XI deficiency in order to identify the molecular defect. Conventional mutation screening failed to identify a causative mutation in four of the thirty-nine patients. EBV transformed cells from these four patients were converted from a diploid to haploid chromosome complement. Subsequent analysis showed that two of the patients had a large deletion, which was masked in the heterozygous state by the presence of a normal allele. We report here the first confirmed whole gene deletion as the causative mutation of factor XI deficiency, the result of unequal homologous recombination between flanking Alu repeat sequences. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

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