Origin of mutation in sporadic cases of haemophilia-B
(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.
(Less)
- author
- Kling, S. LU ; Ljung, R. LU ; Sjörin, Elsy LU ; Montandon, J. ; Green, P. ; Giannelli, F. and Nilsson, Inga Marie
- organization
- publishing date
- 1992
- type
- Contribution to journal
- publication status
- published
- in
- European Journal of Haematology
- volume
- 48
- issue
- 3
- pages
- 142 - 145
- publisher
- Wiley-Blackwell
- external identifiers
-
- pmid:1348478
- 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
- 2024-05-04 12:38:14
@article{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 = {{Wiley-Blackwell}}, 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}}, doi = {{10.1111/j.1600-0609.1992.tb00585.x}}, volume = {{48}}, year = {{1992}}, }