More than half the sporadic cases of Hemophilia A in Sweden are due to a recent mutation
(1991) In Acta Paediatrica Scandinavica 80(3). p.343-348- Abstract
The aim of this study was to ascertain how many of the sporadic cases of severe Haemophilia A in Sweden are due to recent mutation, and establish its origin. DNA analysis was performed in 18 randomly selected families with a sporadic case of severe haemophilia A. Restriction fragment length polymorphism (RFLP) patterns were investigated, two intragenic (Bc1 I, Xba I/Kpn I) and two extragenic (DX 13, St 14) RFLP being used. In 10/18 families a haemophilia-linked gene was found to have derived from the healthy maternal grandfather; on the basis of clotting and immunological assay results, the odds were high (>104:1) for maternal carriership in four of these 10 cases, and for maternal non-carriership in two, four being indeterminate. In... (More)
The aim of this study was to ascertain how many of the sporadic cases of severe Haemophilia A in Sweden are due to recent mutation, and establish its origin. DNA analysis was performed in 18 randomly selected families with a sporadic case of severe haemophilia A. Restriction fragment length polymorphism (RFLP) patterns were investigated, two intragenic (Bc1 I, Xba I/Kpn I) and two extragenic (DX 13, St 14) RFLP being used. In 10/18 families a haemophilia-linked gene was found to have derived from the healthy maternal grandfather; on the basis of clotting and immunological assay results, the odds were high (>104:1) for maternal carriership in four of these 10 cases, and for maternal non-carriership in two, four being indeterminate. In 4/18 families a haemophilia-linked gene derived from the healthy maternal grandmother; according to clotting and immunological assay results, in two cases the odds were high for maternal non-carriership. In the remaining 4/18 families no conclusions could be drawn from the RFLP pattern as to the origin of mutation. We conclude that at least 55% of the sporadic cases of severe hemophilia A in Sweden are due to a recent mutation within the last two genrations.
(Less)
- author
- Ljung, R. LU ; Kling, S. LU ; Sjörin, Elsy LU and Nilsson, Inga Marie
- organization
- publishing date
- 1991
- type
- Contribution to journal
- publication status
- published
- keywords
- carrier, factor VIII, haemophilia A, mutation rate, RFLP
- in
- Acta Paediatrica Scandinavica
- volume
- 80
- issue
- 3
- pages
- 343 - 348
- publisher
- Wiley-Blackwell
- external identifiers
-
- scopus:0026013193
- pmid:1674633
- ISSN
- 0001-656X
- DOI
- 10.1111/j.1651-2227.1991.tb11860.x
- language
- English
- LU publication?
- yes
- id
- 83de8cf8-ee88-496f-897a-d1549eb9bc4b
- date added to LUP
- 2016-11-08 15:06:58
- date last changed
- 2024-05-04 12:34:14
@article{83de8cf8-ee88-496f-897a-d1549eb9bc4b, abstract = {{<p>The aim of this study was to ascertain how many of the sporadic cases of severe Haemophilia A in Sweden are due to recent mutation, and establish its origin. DNA analysis was performed in 18 randomly selected families with a sporadic case of severe haemophilia A. Restriction fragment length polymorphism (RFLP) patterns were investigated, two intragenic (Bc1 I, Xba I/Kpn I) and two extragenic (DX 13, St 14) RFLP being used. In 10/18 families a haemophilia-linked gene was found to have derived from the healthy maternal grandfather; on the basis of clotting and immunological assay results, the odds were high (>104:1) for maternal carriership in four of these 10 cases, and for maternal non-carriership in two, four being indeterminate. In 4/18 families a haemophilia-linked gene derived from the healthy maternal grandmother; according to clotting and immunological assay results, in two cases the odds were high for maternal non-carriership. In the remaining 4/18 families no conclusions could be drawn from the RFLP pattern as to the origin of mutation. We conclude that at least 55% of the sporadic cases of severe hemophilia A in Sweden are due to a recent mutation within the last two genrations.</p>}}, author = {{Ljung, R. and Kling, S. and Sjörin, Elsy and Nilsson, Inga Marie}}, issn = {{0001-656X}}, keywords = {{carrier; factor VIII; haemophilia A; mutation rate; RFLP}}, language = {{eng}}, number = {{3}}, pages = {{343--348}}, publisher = {{Wiley-Blackwell}}, series = {{Acta Paediatrica Scandinavica}}, title = {{More than half the sporadic cases of Hemophilia A in Sweden are due to a recent mutation}}, url = {{http://dx.doi.org/10.1111/j.1651-2227.1991.tb11860.x}}, doi = {{10.1111/j.1651-2227.1991.tb11860.x}}, volume = {{80}}, year = {{1991}}, }