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More than half the sporadic cases of Hemophilia A in Sweden are due to a recent mutation

Ljung, R. LU ; Kling, S. LU ; Sjörin, Elsy LU and Nilsson, Inga Marie (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.

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author
organization
publishing date
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
external identifiers
  • Scopus:0026013193
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
2016-11-21 10:03:03
@misc{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 (&gt;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},
  keyword      = {carrier,factor VIII,haemophilia A,mutation rate,RFLP},
  language     = {eng},
  number       = {3},
  pages        = {343--348},
  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},
  volume       = {80},
  year         = {1991},
}