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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 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 Citation Map 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. Related Collections Clinical Trials and Observations Hemostasis, Thrombosis, and Vascular Biology Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  CLINICAL TRIALS AND OBSERVATIONS Brief report Prothrombin 20210G>A is an ancestral prothrombotic mutation that occurred in whites 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 From the Amalia Biron Research Institute of Thrombosis and Hemostasis, Chaim Sheba Medical Center and Tel Aviv University, Israel; Hôtel Dieu, Paris, France; University of Milan, Italy; University of Vienna, Austria; Leiden University Medical Center, The Netherlands; J. W. Goethe University, Frankfurt, Germany; and University of Paris Descartes, Institut National de la Santé et de la Recherche Médicale (INSERM) U765, Paris, France. Prothrombin 20210G>A and factor V Leiden are common prothrombotic mutations in whites for which founder effects have been established. In this study, we analyzed the frequencies of 5 single nucleotide polymorphisms (SNPs) and 9 microsatellites flanking the prothrombin gene (F2) in 88 homozygotes for 20210A and 66 homozygotes for 20210G. For estimating the age of the prothrombin 20210G>A mutation, we used the DMLE+2.0 program, which analyzed 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 years). A similar analysis by the DMLE+2.0 program was performed on 5 SNPs from previously studied homozygotes for factor V Leiden and controls that yielded an age estimate of 21 340 years (95% credible set, 16 880-29 480 years). The occurrence of the 2 mutations in whites toward the end of the last glaciation and their presently wide distribution in whites 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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