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Origin of mutation in sporadic cases of haemophilia A

Ljung, R. C R LU and Sjörin, Elsy LU (1999) In British Journal of Haematology 106(4). p.870-874
Abstract

The aim of this study was to define the origin of mutation in sporadic cases of severe haemophilia A. The series was composed of 31 families with sporadic severe haemophilia A in the geographical catchment area of the Malmo haemophilia centre. The mutation was characterized in 29/31 families: inversion type 1 (n = 11), inversion type 2 (n = 3), other inversion (n= 1), small or partial deletion (n = 6), insertion (n = 2), non-sense mutation (n = 4) and mis-sense mutation (n = 2). Of 29 probands, eight carried a de novo mutation, whereas the proband's mother was found to carry the mutation in 21/29 families. Of the 21 carrier mothers, 16 had de novo mutations (i.e. the proband's maternal grandfather and grandmother were non-carriers).... (More)

The aim of this study was to define the origin of mutation in sporadic cases of severe haemophilia A. The series was composed of 31 families with sporadic severe haemophilia A in the geographical catchment area of the Malmo haemophilia centre. The mutation was characterized in 29/31 families: inversion type 1 (n = 11), inversion type 2 (n = 3), other inversion (n= 1), small or partial deletion (n = 6), insertion (n = 2), non-sense mutation (n = 4) and mis-sense mutation (n = 2). Of 29 probands, eight carried a de novo mutation, whereas the proband's mother was found to carry the mutation in 21/29 families. Of the 21 carrier mothers, 16 had de novo mutations (i.e. the proband's maternal grandfather and grandmother were non-carriers). Owing to the lack of samples from the grandparents, origin could not be determined in the remaining five families. Polymorphisms of the FVIII gene were used to determine whether the de novo mutation of the carrier mother was of paternal or maternal origin. In 15/16 cases the mutation was of paternal origin and in 1/16 cases of maternal origin. In the series as a whole, mutation frequency was 6-fold higher in males than in females, but no differences in the ratio of sex-specific mutations rates was found among different types of mutation.

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author
organization
publishing date
type
Contribution to journal
publication status
published
keywords
Carrier, Factor VIII, Haemophilia A, Mutation, Prenatal diagnosis
in
British Journal of Haematology
volume
106
issue
4
pages
870 - 874
publisher
Federation of European Neuroscience Societies and Blackwell Publishing Ltd
external identifiers
  • Scopus:0032845563
ISSN
0007-1048
DOI
10.1046/j.1365-2141.1999.01631.x
language
English
LU publication?
yes
id
249174fc-aa57-460b-8a5e-1b5632c137c1
date added to LUP
2016-11-08 16:30:41
date last changed
2016-11-30 17:07:31
@misc{249174fc-aa57-460b-8a5e-1b5632c137c1,
  abstract     = {<p>The aim of this study was to define the origin of mutation in sporadic cases of severe haemophilia A. The series was composed of 31 families with sporadic severe haemophilia A in the geographical catchment area of the Malmo haemophilia centre. The mutation was characterized in 29/31 families: inversion type 1 (n = 11), inversion type 2 (n = 3), other inversion (n= 1), small or partial deletion (n = 6), insertion (n = 2), non-sense mutation (n = 4) and mis-sense mutation (n = 2). Of 29 probands, eight carried a de novo mutation, whereas the proband's mother was found to carry the mutation in 21/29 families. Of the 21 carrier mothers, 16 had de novo mutations (i.e. the proband's maternal grandfather and grandmother were non-carriers). Owing to the lack of samples from the grandparents, origin could not be determined in the remaining five families. Polymorphisms of the FVIII gene were used to determine whether the de novo mutation of the carrier mother was of paternal or maternal origin. In 15/16 cases the mutation was of paternal origin and in 1/16 cases of maternal origin. In the series as a whole, mutation frequency was 6-fold higher in males than in females, but no differences in the ratio of sex-specific mutations rates was found among different types of mutation.</p>},
  author       = {Ljung, R. C R and Sjörin, Elsy},
  issn         = {0007-1048},
  keyword      = {Carrier,Factor VIII,Haemophilia A,Mutation,Prenatal diagnosis},
  language     = {eng},
  number       = {4},
  pages        = {870--874},
  publisher    = {ARRAY(0x8253148)},
  series       = {British Journal of Haematology},
  title        = {Origin of mutation in sporadic cases of haemophilia A},
  url          = {http://dx.doi.org/10.1046/j.1365-2141.1999.01631.x},
  volume       = {106},
  year         = {1999},
}