Haemophilia B mutations in Sweden: a population-based study of mutational heterogeneity
(2001) In British Journal of Haematology 113(1). p.81-86- Abstract
- The present series comprises all families (n = 77) with haemophilia B in Sweden and may be considered to be representative for the purposes of a population-based study of mutational heterogeneity. The 77 families (38 severe, 10 moderate, 29 mild) had 51 different mutations in total. Thirteen families had total, partial or small deletions, two had mutations in the promoter, eight families had splice site mutations, 14 had nonsense and the remaining 41 had missense mutations. Ten of the mutations, all C-->T or G-->A, recurred in 1--6 other families. Using haplotype analysis of seven polymorphisms in the factor IX (FIX) gene, we found that the 77 families carried 65 unique, independent mutations. Of the 48 families with severe or... (More)
- The present series comprises all families (n = 77) with haemophilia B in Sweden and may be considered to be representative for the purposes of a population-based study of mutational heterogeneity. The 77 families (38 severe, 10 moderate, 29 mild) had 51 different mutations in total. Thirteen families had total, partial or small deletions, two had mutations in the promoter, eight families had splice site mutations, 14 had nonsense and the remaining 41 had missense mutations. Ten of the mutations, all C-->T or G-->A, recurred in 1--6 other families. Using haplotype analysis of seven polymorphisms in the factor IX (FIX) gene, we found that the 77 families carried 65 unique, independent mutations. Of the 48 families with severe or moderate haemophilia, 23 (48%) had a sporadic case of haemophilia compared with 31 families out of 78 (40%) in the whole series. Five of those 23 sporadic cases carried de novo mutations, 11 out of 23 of the mothers were proven carriers and, in the remaining seven families, it was not possible to determine carriership. Eleven of the 48 patients (23%) with severe haemophilia B developed inhibitors and all of them had deletions or nonsense mutations. Thus, 11 out of 37 (30%) patients with severe haemophilia B as a result of deletion/nonsense mutations developed inhibitors compared with 0 out of 11 patients with missense mutations. The ratio of male to female mutation rates was 5.3 and the overall mutation rate was 5.4 x 10(-6) per gamete per generation. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1122421
- author
- Ljung, Rolf LU ; Petrini, Pia ; Tengborn, Lilian and Sjörin, Elsy LU
- organization
- publishing date
- 2001
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- haemophilia B, factor IX, mutation, inhibitor, mutation frequency
- in
- British Journal of Haematology
- volume
- 113
- issue
- 1
- pages
- 81 - 86
- publisher
- Wiley-Blackwell
- external identifiers
-
- pmid:11328285
- scopus:0035022048
- ISSN
- 0007-1048
- DOI
- 10.1046/j.1365-2141.2001.02759.x
- language
- English
- LU publication?
- yes
- id
- 0830de0e-5843-44d4-9da1-6ba64c6aeb6b (old id 1122421)
- date added to LUP
- 2016-04-01 11:41:37
- date last changed
- 2022-07-29 08:40:35
@article{0830de0e-5843-44d4-9da1-6ba64c6aeb6b, abstract = {{The present series comprises all families (n = 77) with haemophilia B in Sweden and may be considered to be representative for the purposes of a population-based study of mutational heterogeneity. The 77 families (38 severe, 10 moderate, 29 mild) had 51 different mutations in total. Thirteen families had total, partial or small deletions, two had mutations in the promoter, eight families had splice site mutations, 14 had nonsense and the remaining 41 had missense mutations. Ten of the mutations, all C-->T or G-->A, recurred in 1--6 other families. Using haplotype analysis of seven polymorphisms in the factor IX (FIX) gene, we found that the 77 families carried 65 unique, independent mutations. Of the 48 families with severe or moderate haemophilia, 23 (48%) had a sporadic case of haemophilia compared with 31 families out of 78 (40%) in the whole series. Five of those 23 sporadic cases carried de novo mutations, 11 out of 23 of the mothers were proven carriers and, in the remaining seven families, it was not possible to determine carriership. Eleven of the 48 patients (23%) with severe haemophilia B developed inhibitors and all of them had deletions or nonsense mutations. Thus, 11 out of 37 (30%) patients with severe haemophilia B as a result of deletion/nonsense mutations developed inhibitors compared with 0 out of 11 patients with missense mutations. The ratio of male to female mutation rates was 5.3 and the overall mutation rate was 5.4 x 10(-6) per gamete per generation.}}, author = {{Ljung, Rolf and Petrini, Pia and Tengborn, Lilian and Sjörin, Elsy}}, issn = {{0007-1048}}, keywords = {{haemophilia B; factor IX; mutation; inhibitor; mutation frequency}}, language = {{eng}}, number = {{1}}, pages = {{81--86}}, publisher = {{Wiley-Blackwell}}, series = {{British Journal of Haematology}}, title = {{Haemophilia B mutations in Sweden: a population-based study of mutational heterogeneity}}, url = {{http://dx.doi.org/10.1046/j.1365-2141.2001.02759.x}}, doi = {{10.1046/j.1365-2141.2001.02759.x}}, volume = {{113}}, year = {{2001}}, }