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Origin of mutation in sporadic cases of haemophilia-B

Kling, S. LU ; Ljung, R. LU ; Sjörin, Elsy LU ; Montandon, J.; Green, P.; Giannelli, F. and Nilsson, Inga Marie (1992) In European Journal of Haematology 48(3). p.142-145
Abstract

Of the 45 haemophilia-B patients registered at the haemophilia centre in Malmo, Sweden, 24 are the sole members of their families to be affected, and in 13 of these 24 cases, ascendant relatives are available for study. Detection of the gene defect showed the mutation to be de novo in the proband in 3 of these 13 cases, and inherited from a carrier mother in the remaining 10 cases. All 10 carrier mothers were shown to have de novo mutations, as the patients' grandfathers were phenotypically and/or haematologically normal, and the grandmothers were non-carriers. Seven restriction fragment length polymorphisms (RFLPs) of the factor IX gene were used to determine whether the de novo mutations of the 10 carrier mothers were of paternal or... (More)

Of the 45 haemophilia-B patients registered at the haemophilia centre in Malmo, Sweden, 24 are the sole members of their families to be affected, and in 13 of these 24 cases, ascendant relatives are available for study. Detection of the gene defect showed the mutation to be de novo in the proband in 3 of these 13 cases, and inherited from a carrier mother in the remaining 10 cases. All 10 carrier mothers were shown to have de novo mutations, as the patients' grandfathers were phenotypically and/or haematologically normal, and the grandmothers were non-carriers. Seven restriction fragment length polymorphisms (RFLPs) of the factor IX gene were used to determine whether the de novo mutations of the 10 carrier mothers were of paternal or maternal origin. In 6/10 cases, the RFLP patterns were informative, and indicated the mutation to be of paternal origin.

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author
organization
publishing date
type
Contribution to journal
publication status
published
in
European Journal of Haematology
volume
48
issue
3
pages
142 - 145
publisher
Wiley-Blackwell
external identifiers
  • Scopus:0026549848
ISSN
0902-4441
DOI
10.1111/j.1600-0609.1992.tb00585.x
language
English
LU publication?
yes
id
3c82e9e1-b2f1-44b0-93aa-5adb8f1f07ea
date added to LUP
2016-11-08 16:29:41
date last changed
2016-11-21 12:58:03
@misc{3c82e9e1-b2f1-44b0-93aa-5adb8f1f07ea,
  abstract     = {<p>Of the 45 haemophilia-B patients registered at the haemophilia centre in Malmo, Sweden, 24 are the sole members of their families to be affected, and in 13 of these 24 cases, ascendant relatives are available for study. Detection of the gene defect showed the mutation to be de novo in the proband in 3 of these 13 cases, and inherited from a carrier mother in the remaining 10 cases. All 10 carrier mothers were shown to have de novo mutations, as the patients' grandfathers were phenotypically and/or haematologically normal, and the grandmothers were non-carriers. Seven restriction fragment length polymorphisms (RFLPs) of the factor IX gene were used to determine whether the de novo mutations of the 10 carrier mothers were of paternal or maternal origin. In 6/10 cases, the RFLP patterns were informative, and indicated the mutation to be of paternal origin.</p>},
  author       = {Kling, S. and Ljung, R. and Sjörin, Elsy and Montandon, J. and Green, P. and Giannelli, F. and Nilsson, Inga Marie},
  issn         = {0902-4441},
  language     = {eng},
  number       = {3},
  pages        = {142--145},
  publisher    = {ARRAY(0xb65dfe8)},
  series       = {European Journal of Haematology},
  title        = {Origin of mutation in sporadic cases of haemophilia-B},
  url          = {http://dx.doi.org/10.1111/j.1600-0609.1992.tb00585.x},
  volume       = {48},
  year         = {1992},
}