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Haplotype analysis of identical factor IX mutants using PCR

Green, P. M.; Montandon, A. J.; Ljung, R. LU ; Giannelli, F. and Nilsson, Inga Marie (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.

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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Thrombosis and Haemostasis
volume
67
issue
1
pages
66 - 69
publisher
F K Schattauer Verlag Gmbh
external identifiers
  • 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
2016-11-21 10:23:11
@misc{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    = {ARRAY(0xb7507b0)},
  series       = {Thrombosis and Haemostasis},
  title        = {Haplotype analysis of identical factor IX mutants using PCR},
  volume       = {67},
  year         = {1992},
}