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Blood, 15 June 2006, Vol. 107, No. 12, pp. 4666-4668. Prepublished online as a Blood First Edition Paper on February 21, 2006; DOI 10.1182/blood-2005-12-5158. This Article Full Text (PDF) All Versions of this Article: 2005-12-5158v1 107/12/4666    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 HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Zivelin, A. Articles by Seligsohn, U. Search for Related Content PubMed PubMed Citation Articles by Zivelin, A. Articles by Seligsohn, U. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted January 3, 2006 Accepted February 7, 2006 Prothrombin G20210A is an ancestral prothrombotic mutation that occurred in caucasians approximately 24,000 years ago Ariella Zivelin, Ronit Mor-Cohen, Victoria Kovalsky, Nurit Kornbrot, Jacqueline Conard, Flora Peyvandi, Paul A Kyrle, Rogier Bertina, Ferial Peyvandi, Joseph Emmerich, and Uri Seligsohn* The Amalia Biron Research Institute of Thrombosis and Hemostasis, Sheba Medical Center and Tel Aviv University, Tel Hashomer, Israel Hotel Dieu, Paris, France University of Milan, Milan, Italy University of Vienna, Vienna, Austria Leiden University Medical Center, Leiden, The Netherlands J.W. Goethe University, Frankfurt, Germany University of Paris Descartes INSERM U765, Paris, France * Corresponding author; email: seligson{at}sheba.health.gov.il. Prothrombin G20210A and factor V Leiden are common prothrombotic mutations in Caucasians for which founder effects have been established. In this study, we analysed the frequencies of 5 single nucleotide polymorphisms (SNPs) and 9 microsatellites flanking the prothrombin gene in 88 homozygotes for 20210A and 66 homozygotes for 20210G. For estimating the age of the prothrombin G20210A mutation we used the DMLE+2.0 program which analysed linkage disequilibria between the mutation and the multiple markers that had been assessed. This analysis yielded an age estimate of 23,720 years (95% credible set 19,080-31,340). A similar analysis by the DMLE+2.0 program was performed on 5 SNPs from previously studied homozygotes for factor V Leiden and controls which yielded an age estimate of 21,340 years (95% credible set 16,880-29,480). The occurrence of the two mutations in Caucasians towards the end of the last glaciation and their presently wide distribution in Caucasians suggest selective evolutionary advantages for which some evidence was reported (diminished blood loss), or is controversial (protection against infections). CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: B. Dahlback Advances in understanding pathogenic mechanisms of thrombophilic disorders Blood, July 1, 2008; 112(1): 19 - 27. [Abstract] [Full Text] [PDF]

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