Antenatal diagnosis of haemophilia B by amplification and electrophoresis of an exon fragment with a short deletion
(1992) In European Journal of Haematology 49(4). p.215-218- Abstract
Cartier identification and antenatal diagnosis were performed in 2 sisters by electrophoretic separation of the normal and abnormal bands obtained after amplification of a fragment of exon h in the factor IX gene. The mutation in the family had been characterised as an 8-base pair (bp) deletion in exon h. By amplification of a 326 bp fragment containing the site of deletion, the shorter 318 bp band of the haemophilia B gene could be separated by electrophoresis of the fragments. The comprehensive data collection at the Haemophila Centre is of vital importance in the genetic counselling of haemophilia families, and was a crucial step for the successful diagnoses in these sisters.
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- author
- Ljung, R. LU ; Green, P. ; Sjörin, Elsy LU ; Giannelli, F. and Nilsson, I M
- organization
- publishing date
- 1992
- type
- Contribution to journal
- publication status
- published
- subject
- in
- European Journal of Haematology
- volume
- 49
- issue
- 4
- pages
- 4 pages
- publisher
- Wiley-Blackwell
- external identifiers
-
- pmid:1464363
- scopus:0026620631
- ISSN
- 0902-4441
- language
- English
- LU publication?
- yes
- id
- 2707d7ff-bca3-479a-a3be-5fdd905f548e
- date added to LUP
- 2016-11-08 15:21:49
- date last changed
- 2024-01-04 16:00:28
@article{2707d7ff-bca3-479a-a3be-5fdd905f548e, abstract = {{<p>Cartier identification and antenatal diagnosis were performed in 2 sisters by electrophoretic separation of the normal and abnormal bands obtained after amplification of a fragment of exon h in the factor IX gene. The mutation in the family had been characterised as an 8-base pair (bp) deletion in exon h. By amplification of a 326 bp fragment containing the site of deletion, the shorter 318 bp band of the haemophilia B gene could be separated by electrophoresis of the fragments. The comprehensive data collection at the Haemophila Centre is of vital importance in the genetic counselling of haemophilia families, and was a crucial step for the successful diagnoses in these sisters.</p>}}, author = {{Ljung, R. and Green, P. and Sjörin, Elsy and Giannelli, F. and Nilsson, I M}}, issn = {{0902-4441}}, language = {{eng}}, number = {{4}}, pages = {{215--218}}, publisher = {{Wiley-Blackwell}}, series = {{European Journal of Haematology}}, title = {{Antenatal diagnosis of haemophilia B by amplification and electrophoresis of an exon fragment with a short deletion}}, volume = {{49}}, year = {{1992}}, }