title: A common VWF exon 28 haplotype in the Turkish population.
abstract: An 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.
authors.affiliation: 1Department of Molecular Biology and Genetics, Istanbul Arel University, Istanbul, Turkey.
authors.forename: Ergul
authors.initials: E
authors.lastname: Berber
authors.forename: Funda
authors.initials: F
authors.lastname: Pehlevan
authors.forename: Mehmet
authors.initials: M
authors.lastname: Akin
authors.forename: Ozlem Yalcin
authors.initials: OY
authors.lastname: Capan
authors.forename: Kaan
authors.initials: K
authors.lastname: Kavakli
authors.forename: S Hande
authors.initials: SH
authors.lastname: Çaglayan
mesh_terms: D001483:Base Sequence; D005091:Exons; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D014421:Turkey; D014842:von Willebrand Diseases / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
chemical_list: D014841:von Willebrand Factor