Determination of factor IX allotypes for carrier identification in haemophilia B
Wallmark, A. ; Ljung, R. LU
and Nilsson, I. M.
(1987)
In British Journal of Haematology
67(4).
p.427-432
- Abstract
The existence of two genetic variants (allotypes) of normal human factor IX is used for carrier detection in three families with severe and one with mild haemophilia B. By analysis of IX:Ag with two different monoclonal antibodies in 93 members of the families, allelic assignment is shown to be a complement in carrier diagnosis to genotypic DNA studies. Allelic assignment makes possible a reliable diagnosis based on phenotypic studies, though its usefulness is limited due to ethnic variation in allelic frequency. Determination of factor IX allotypes should be useful for carrier detection in any Swedish families with haemophilia B.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/8712ed7b-8a1e-4a18-b9cf-e0cf2403c472
- author
- Wallmark, A.
; Ljung, R.
LU
and Nilsson, I. M.
- organization
- publishing date
- 1987-01-01
- type
- Contribution to journal
- publication status
- published
- in
- British Journal of Haematology
- volume
- 67
- issue
- 4
- pages
- 6 pages
- publisher
- Wiley-Blackwell
- external identifiers
-
- scopus:0023622320
- pmid:3426960
- ISSN
- 0007-1048
- DOI
- 10.1111/j.1365-2141.1987.tb06164.x
- language
- English
- LU publication?
- yes
- id
- 8712ed7b-8a1e-4a18-b9cf-e0cf2403c472
- date added to LUP
- 2018-10-12 12:09:35
- date last changed
- 2024-01-15 04:06:52
@article{8712ed7b-8a1e-4a18-b9cf-e0cf2403c472,
abstract = {{<p>The existence of two genetic variants (allotypes) of normal human factor IX is used for carrier detection in three families with severe and one with mild haemophilia B. By analysis of IX:Ag with two different monoclonal antibodies in 93 members of the families, allelic assignment is shown to be a complement in carrier diagnosis to genotypic DNA studies. Allelic assignment makes possible a reliable diagnosis based on phenotypic studies, though its usefulness is limited due to ethnic variation in allelic frequency. Determination of factor IX allotypes should be useful for carrier detection in any Swedish families with haemophilia B.</p>}},
author = {{Wallmark, A. and Ljung, R. and Nilsson, I. M.}},
issn = {{0007-1048}},
language = {{eng}},
month = {{01}},
number = {{4}},
pages = {{427--432}},
publisher = {{Wiley-Blackwell}},
series = {{British Journal of Haematology}},
title = {{Determination of factor IX allotypes for carrier identification in haemophilia B}},
url = {{http://dx.doi.org/10.1111/j.1365-2141.1987.tb06164.x}},
doi = {{10.1111/j.1365-2141.1987.tb06164.x}},
volume = {{67}},
year = {{1987}},
}