A Common VWF Exon 28 Haplotype in the Turkish Population

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dc.contributor.authorBerber, Ergul
dc.contributor.authorPehlevan, Funda
dc.contributor.authorAkin, Mehmet
dc.contributor.authorCapan, Ozlem Yalcin
dc.contributor.authorKavakli, Kaan
dc.contributor.authorCaglayan, S. Hande
dc.date.accessioned2019-10-27T22:08:26Z
dc.date.available2019-10-27T22:08:26Z
dc.date.issued2013
dc.departmentEge Üniversitesien_US
dc.description.abstractAn increasing number of mutations and polymorphisms have been identified in the von Willebrand factor (VWF) gene of patients with von Willebrand disease (VWD). Most of the sequence alterations are within exon 28, duplicated in the VWF pseudogene on chromosome 22. Genetic recombination causing the gene conversion between the VWF gene and its pseudogene is associated with multiple substitutions in the VWF gene and with VWD. In the present study, VWF gene exon 28 was analyzed in 33 patients with VWD by DNA sequencing. A total of 73% of the patients were heterozygous for p.D1472H, p.V1485L, p.1500A, p.1501F, p.L1503P, and p.S1506L single-nucleotide polymorphisms. Family analysis revealed that the gene conversion occurred between the VWF gene and its pseudogene in 3 patients. Case-control association analysis by Haploview 4.2 did not show an association between the haplotype and VWD. In conclusion, a common exon 28 haplotype in the Turkish population, which might have arisen from the gene conversion events in the founder population, was identified.en_US
dc.description.sponsorshipBogazici University Research FundBogazici University [08HB105]; Ege Hemophilia SocietyEge University; ELIPS Ltd.en_US
dc.description.sponsorshipThe author(s) disclosed receipt of the following financial support for the research, authorship and/or publication of this article: supported by Bogazici University Research Fund (project no: 08HB105), Ege Hemophilia Society, and ELIPS Ltd.en_US
dc.identifier.doi10.1177/1076029612441054en_US
dc.identifier.endpage556en_US
dc.identifier.issn1076-0296
dc.identifier.issn1938-2723
dc.identifier.issue5en_US
dc.identifier.pmid22473027en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage550en_US
dc.identifier.urihttps://doi.org/10.1177/1076029612441054
dc.identifier.urihttps://hdl.handle.net/11454/49181
dc.identifier.volume19en_US
dc.identifier.wosWOS:000324472400013en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSage Publications Incen_US
dc.relation.ispartofClinical and Applied Thrombosis-Hemostasisen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectVWFen_US
dc.subjectVWF haplotypeen_US
dc.subjectVWF gene conversionen_US
dc.subjectVWF exon 28en_US
dc.subjectVWDen_US
dc.titleA Common VWF Exon 28 Haplotype in the Turkish Populationen_US
dc.typeArticleen_US

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