A novel haemophilia B defect due to partial duplication of the factor IX gene

Chan, V., Au, P., Lau, P. and Chan, T. K. (1994) A novel haemophilia B defect due to partial duplication of the factor IX gene. British Journal of Haematology, 86 3: 601-609. doi:10.1111/j.1365-2141.1994.tb04792.x


Author Chan, V.
Au, P.
Lau, P.
Chan, T. K.
Title A novel haemophilia B defect due to partial duplication of the factor IX gene
Journal name British Journal of Haematology   Check publisher's open access policy
ISSN 1365-2141
0007-1048
Publication date 1994
Sub-type Article (original research)
DOI 10.1111/j.1365-2141.1994.tb04792.x
Volume 86
Issue 3
Start page 601
End page 609
Total pages 9
Place of publication London, UK
Publisher Blackwell Publishing
Language eng
Subject 1104 Complementary and Alternative Medicine
Abstract Summary. A patient with mild FIX deficiency was found to have partial duplication of the 3' region of the gene, giving, in addition to the a normal gene, another piece of DNA containing exons 5', 6', 7' and 8' and the intervening sequences. Cloning and sequencing of the junction region revealed that crossover occurred at nt 31927 in the 3° untranslated region of one chromosome/chromatid and nt 10640 in intron 4 of the other. No homology or topoisomerase specific sequences were observed in the crossover region. PCR and sequencing of illegitimate FIX transcripts from the patient's lymphocytes showed at least three different species of mRNAs. Translation of two of these 'novel'mRNAs should result in truncated proteins. Possibilities for the splicing of the mature mRNA are offered to explain the translation of a normal-size FIX protein, which was the only product demonstrated on Western blot analysis.
Keyword haemophilia B
factor IX
gene defect
partial duplication
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
 
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Created: Tue, 16 Mar 2010, 14:26:38 EST by Laura McTaggart on behalf of Institute for Molecular Bioscience