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Origin of Swedish hemophilia B mutations

In English

Författare

Summary, in English

Background More than 1100 mutations that cause hemophilia B (HB) have been identified. At the same time, specific F9 mutations are present at high frequencies in certain populations, which raise questions about the origin of HB mutations. ObjectivesTo describe the mutation spectrum of all HB families in Sweden and investigate if mutations appearing in several families are due to independent recurrent mutations (RMs) or to a common mutation event (i.e. are identical by descent (IBD)). Patients/MethodsThe registered Swedish HB population consists of patients from 86 families. Mutations were identified by resequencing and identical haplotypes were defined using 74 markers and a control population of 285 individuals. The ages of IBD mutations were estimated using ESTIAGE. ResultsOut of 77 presumably unrelated patients with substitution mutations, 47 patients (61%) had mutations in common with other patients. Haplotyping of the 47 patients showed that 24 patients had IBD mutations (51%) with estimated ages of between two and 23 generations. A majority of these patients had mild disease. Eight of the 15 mutations observed in more than one family were C>T transitions in CpG sites and all eight were RMs. ConclusionsThe association of IBD mutations with a mild phenotype is similar to what has been previously observed in hemophilia A. Noteworthy features of the mutations that are common to more than one family are the equal proportions of patients with RM and IBD mutations and the correlation between the occurrence of RMs and C>T transitions at CpG sites.

Avdelning/ar

Publiceringsår

2013

Språk

Engelska

Sidor

2001-2008

Publikation/Tidskrift/Serie

Journal of Thrombosis and Haemostasis

Volym

11

Issue

11

Dokumenttyp

Artikel i tidskrift

Förlag

Wiley-Blackwell

Ämne

  • Cardiac and Cardiovascular Systems

Nyckelord

  • factor IX
  • founder effect
  • haplotypes
  • hemophilia B
  • mutation

Status

Published

Forskningsgrupp

  • Paediatric Hematologic Research Group
  • Evolutionary Genetics
  • Paediatric Haematology Research Unit

ISBN/ISSN/Övrigt

  • ISSN: 1538-7933