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Haplotype analysis ...
Haplotype analysis of identical factor IX mutants using PCR
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- Green, P. M. (author)
- Guy's and St Thomas' NHS Foundation Trust
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- Montandon, A. J. (author)
- Guy's and St Thomas' NHS Foundation Trust
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- Ljung, R. (author)
- Lund University,Lunds universitet,Pediatrisk hematologi,Forskargrupper vid Lunds universitet,Paediatric Haematology Research Unit,Lund University Research Groups,Guy's and St Thomas' NHS Foundation Trust
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- Giannelli, F. (author)
- Guy's and St Thomas' NHS Foundation Trust
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Nilsson, Inga Marie (author)
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(creator_code:org_t)
- 1992
- 1992
- English.
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In: Thrombosis and Haemostasis. - 0340-6245. ; 67:1, s. 66-69
- Related links:
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https://lup.lub.lu.s...
Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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