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Article: Molecular characterization of haemophilia A in southern Chinese

TitleMolecular characterization of haemophilia A in southern Chinese
Authors
KeywordsFVIII
molecular pathology
mutation
Issue Date1996
PublisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJH
Citation
British Journal Of Haematology, 1996, v. 93 n. 2, p. 451-456 How to Cite?
Abstract41 unrelated southern Chinese haemophilia A patients were studied. The 5' promoter region, all 26 exons, their immediate 5' and 3' flanking splice junctions and the 3' untranslated region of the FVIII gene were amplified (including 16 different segments of exon 14) using GC-clamped primers. The GC-clamped PCR products were screened by denaturing gradient gel electrophoresis (DGGE) and fragments showing an abnormal migration pattern were sequenced. 17 mutations were identified, of which four were splicing defects, involving the first 1-6 nucleotide (nt) in the intervening sequences (IVS), six missense mutations, three nonsense mutations and four frameshift mutations. 14 other patients carried the type 1 inversion, affecting the distal copy of the F8A gene at the telomere of the X chromosome and the same gene in intron 22 of the FVIII gene. All the mothers studied (12/14) were carriers of the inversion. Two of these patients with inversion also have a co-existing missense mutation. In most cases the clinical severity of the disease corresponds to the genotype.
Persistent Identifierhttp://hdl.handle.net/10722/76333
ISSN
2015 Impact Factor: 5.401
2015 SCImago Journal Rankings: 2.313
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChan, Ven_HK
dc.contributor.authorPang, Aen_HK
dc.contributor.authorChan, TPTen_HK
dc.contributor.authorChan, VWYen_HK
dc.contributor.authorChan, TKen_HK
dc.date.accessioned2010-09-06T07:20:07Z-
dc.date.available2010-09-06T07:20:07Z-
dc.date.issued1996en_HK
dc.identifier.citationBritish Journal Of Haematology, 1996, v. 93 n. 2, p. 451-456en_HK
dc.identifier.issn0007-1048en_HK
dc.identifier.urihttp://hdl.handle.net/10722/76333-
dc.description.abstract41 unrelated southern Chinese haemophilia A patients were studied. The 5' promoter region, all 26 exons, their immediate 5' and 3' flanking splice junctions and the 3' untranslated region of the FVIII gene were amplified (including 16 different segments of exon 14) using GC-clamped primers. The GC-clamped PCR products were screened by denaturing gradient gel electrophoresis (DGGE) and fragments showing an abnormal migration pattern were sequenced. 17 mutations were identified, of which four were splicing defects, involving the first 1-6 nucleotide (nt) in the intervening sequences (IVS), six missense mutations, three nonsense mutations and four frameshift mutations. 14 other patients carried the type 1 inversion, affecting the distal copy of the F8A gene at the telomere of the X chromosome and the same gene in intron 22 of the FVIII gene. All the mothers studied (12/14) were carriers of the inversion. Two of these patients with inversion also have a co-existing missense mutation. In most cases the clinical severity of the disease corresponds to the genotype.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.rightsThe definitive version is available at www3.interscience.wiley.comen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subjectFVIIIen_HK
dc.subjectmolecular pathologyen_HK
dc.subjectmutationen_HK
dc.subject.meshFactor VII/genetics-
dc.subject.meshGene Rearrangement-
dc.subject.meshHemophilia A/genetics-
dc.subject.meshMolecular Sequence Data-
dc.subject.meshMutation-
dc.titleMolecular characterization of haemophilia A in southern Chineseen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0007-1048&volume=93&issue=2&spage=451&epage=456&date=1996&atitle=Molecular+characterization+of+haemophilia+A+in+southern+Chineseen_HK
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_HK
dc.identifier.authorityChan, V=rp00320en_HK
dc.description.naturepostprint-
dc.identifier.doi10.1046/j.1365-2141.1996.4981042.x-
dc.identifier.pmid8639447-
dc.identifier.scopuseid_2-s2.0-0029872566en_HK
dc.identifier.hkuros10631en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0029872566&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume93en_HK
dc.identifier.issue2en_HK
dc.identifier.spage451en_HK
dc.identifier.epage456en_HK
dc.identifier.isiWOS:A1996UK09200035-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK
dc.identifier.scopusauthoridPang, A=7007044165en_HK
dc.identifier.scopusauthoridChan, TPT=36146871300en_HK
dc.identifier.scopusauthoridChan, VWY=36896382500en_HK
dc.identifier.scopusauthoridChan, TK=7402687762en_HK

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