File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

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

TitleA novel haemophilia B defect due to partial duplication of the factor IX gene
Authors
Issue Date1994
PublisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJH
Citation
British Journal Of Haematology, 1994, v. 86 n. 3, p. 601-609 How to Cite?
AbstractA 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.
Persistent Identifierhttp://hdl.handle.net/10722/76965
ISSN
2015 Impact Factor: 5.401
2015 SCImago Journal Rankings: 2.313
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorChan, Ven_HK
dc.contributor.authorAu, Pen_HK
dc.contributor.authorLau, Pen_HK
dc.contributor.authorChan, TKen_HK
dc.date.accessioned2010-09-06T07:26:49Z-
dc.date.available2010-09-06T07:26:49Z-
dc.date.issued1994en_HK
dc.identifier.citationBritish Journal Of Haematology, 1994, v. 86 n. 3, p. 601-609en_HK
dc.identifier.issn0007-1048en_HK
dc.identifier.urihttp://hdl.handle.net/10722/76965-
dc.description.abstractA 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.en_HK
dc.languageengen_HK
dc.publisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJHen_HK
dc.relation.ispartofBritish Journal of Haematologyen_HK
dc.rightsBritish Journal of Haematology. Copyright © Blackwell Publishing Ltd.en_HK
dc.subject.meshBase Sequenceen_HK
dc.subject.meshBlotting, Westernen_HK
dc.subject.meshDNA - chemistryen_HK
dc.subject.meshDNA Transposable Elements - geneticsen_HK
dc.subject.meshElectrophoresis, Polyacrylamide Gelen_HK
dc.subject.meshExons - geneticsen_HK
dc.subject.meshFactor IX - analysis - genetics - immunologyen_HK
dc.subject.meshHemophilia B - blood - geneticsen_HK
dc.subject.meshHumansen_HK
dc.subject.meshMaleen_HK
dc.subject.meshMiddle Ageden_HK
dc.subject.meshMolecular Sequence Dataen_HK
dc.subject.meshMultigene Familyen_HK
dc.subject.meshPolymerase Chain Reactionen_HK
dc.subject.meshRNA, Messenger - chemistryen_HK
dc.titleA novel haemophilia B defect due to partial duplication of the factor IX geneen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0007-1048&volume=86&spage=601&epage=609&date=1994&atitle=A+novel+haemophilia+B+defect+due+to+partial+duplication+of+the+Factor+IX+geneen_HK
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_HK
dc.identifier.authorityChan, V=rp00320en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1111/j.1365-2141.1994.tb04792.x-
dc.identifier.pmid8043442-
dc.identifier.scopuseid_2-s2.0-0028243795en_HK
dc.identifier.hkuros4698en_HK
dc.identifier.volume86en_HK
dc.identifier.issue3en_HK
dc.identifier.spage601en_HK
dc.identifier.epage609en_HK
dc.identifier.isiWOS:A1994MZ08900020-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK
dc.identifier.scopusauthoridAu, P=18533445100en_HK
dc.identifier.scopusauthoridLau, P=7102543475en_HK
dc.identifier.scopusauthoridChan, TK=7402687762en_HK

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats