Origin of Swedish hemophilia B mutations
Hallden, C. ; Mårtensson, Annika LU ; Nilsson, D. ; Säll, Torbjörn LU ; Lind-Hallden, C. ; Liden, A. C. and Ljung, Rolf LU
(2013)
In Journal of Thrombosis and Haemostasis
11(11).
p.2001-2008
- Abstract
- 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... (More)
- 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. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/4200995
- author
- Hallden, C.
; Mårtensson, Annika
LU
; Nilsson, D.
; Säll, Torbjörn
LU
; Lind-Hallden, C.
; Liden, A. C.
and Ljung, Rolf
LU
- organization
- publishing date
- 2013
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- factor IX, founder effect, haplotypes, hemophilia B, mutation
- in
- Journal of Thrombosis and Haemostasis
- volume
- 11
- issue
- 11
- pages
- 2001 - 2008
- publisher
- Wiley-Blackwell
- external identifiers
-
- wos:000326764800008
- scopus:84887560677
- ISSN
- 1538-7933
- DOI
- 10.1111/jth.12410
- language
- English
- LU publication?
- yes
- id
- ef72f4c9-fb8b-4ba2-ac46-d8b6ca7cefb0 (old id 4200995)
- date added to LUP
- 2016-04-01 11:15:47
- date last changed
- 2022-03-12 21:06:10
@article{ef72f4c9-fb8b-4ba2-ac46-d8b6ca7cefb0,
abstract = {{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.}},
author = {{Hallden, C. and Mårtensson, Annika and Nilsson, D. and Säll, Torbjörn and Lind-Hallden, C. and Liden, A. C. and Ljung, Rolf}},
issn = {{1538-7933}},
keywords = {{factor IX; founder effect; haplotypes; hemophilia B; mutation}},
language = {{eng}},
number = {{11}},
pages = {{2001--2008}},
publisher = {{Wiley-Blackwell}},
series = {{Journal of Thrombosis and Haemostasis}},
title = {{Origin of Swedish hemophilia B mutations}},
url = {{http://dx.doi.org/10.1111/jth.12410}},
doi = {{10.1111/jth.12410}},
volume = {{11}},
year = {{2013}},
}