Haplotype analysis of identical factor IX mutants using PCR
(1992) In Thrombosis and Haemostasis 67(1). p.66-69- Abstract
We have detected the mutations in the factor IX genes from all of the haemopllilia B patients registered at Malmo haemophilia centre (45) and are currently examining the entire UK haemophilia B population. From these studies we have found 13 base substitutions which have recurred in 1-6 other, presumably unrelated, patients. In order to determine the minimum number of independent repeats of each mutation we have used PCR to examine the five factor IX polymorphisms forming the most informative combinations and we have characterised thc haplotype of each patient. Patients with different haplotypes are assumed to be unrelated and thus to carry independent mutations. All but one of thc 13 mutations occur in at least 2 haplotypes thus... (More)
We have detected the mutations in the factor IX genes from all of the haemopllilia B patients registered at Malmo haemophilia centre (45) and are currently examining the entire UK haemophilia B population. From these studies we have found 13 base substitutions which have recurred in 1-6 other, presumably unrelated, patients. In order to determine the minimum number of independent repeats of each mutation we have used PCR to examine the five factor IX polymorphisms forming the most informative combinations and we have characterised thc haplotype of each patient. Patients with different haplotypes are assumed to be unrelated and thus to carry independent mutations. All but one of thc 13 mutations occur in at least 2 haplotypes thus pinpointing 12 mutational hotspots and mutations that can be clearly considered detrimental. Two of the 13 substitutions occur at non-CpG sites.
(Less)
- author
- Green, P. M. ; Montandon, A. J. ; Ljung, R. LU ; Giannelli, F. and Nilsson, Inga Marie
- organization
- publishing date
- 1992
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Thrombosis and Haemostasis
- volume
- 67
- issue
- 1
- pages
- 66 - 69
- publisher
- Schattauer GmbH
- external identifiers
-
- pmid:1615486
- scopus:0026507476
- ISSN
- 0340-6245
- language
- English
- LU publication?
- yes
- id
- a44afda7-4704-49e6-b0a4-e39b27ab3321
- date added to LUP
- 2016-11-08 15:35:49
- date last changed
- 2024-01-04 16:00:29
@article{a44afda7-4704-49e6-b0a4-e39b27ab3321, abstract = {{<p>We have detected the mutations in the factor IX genes from all of the haemopllilia B patients registered at Malmo haemophilia centre (45) and are currently examining the entire UK haemophilia B population. From these studies we have found 13 base substitutions which have recurred in 1-6 other, presumably unrelated, patients. In order to determine the minimum number of independent repeats of each mutation we have used PCR to examine the five factor IX polymorphisms forming the most informative combinations and we have characterised thc haplotype of each patient. Patients with different haplotypes are assumed to be unrelated and thus to carry independent mutations. All but one of thc 13 mutations occur in at least 2 haplotypes thus pinpointing 12 mutational hotspots and mutations that can be clearly considered detrimental. Two of the 13 substitutions occur at non-CpG sites.</p>}}, author = {{Green, P. M. and Montandon, A. J. and Ljung, R. and Giannelli, F. and Nilsson, Inga Marie}}, issn = {{0340-6245}}, language = {{eng}}, number = {{1}}, pages = {{66--69}}, publisher = {{Schattauer GmbH}}, series = {{Thrombosis and Haemostasis}}, title = {{Haplotype analysis of identical factor IX mutants using PCR}}, volume = {{67}}, year = {{1992}}, }