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Article: Molecular defects in haemophilia B: Detection by direct restriction enzyme analysis

TitleMolecular defects in haemophilia B: Detection by direct restriction enzyme analysis
Authors
Issue Date1991
PublisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJH
Citation
British Journal Of Haematology, 1991, v. 79 n. 1, p. 63-69 How to Cite?
AbstractThe common restriction fragment length polymorphisms (RFLPs) associated with the FIX gene: 5' BamH I, Dde I, BamH I (2), Taq I and 3' Hha I were absent or of low incidence in Southern Chinese and are therefore not useful for linkage analysis. No deletion was detected amongst seven consecutive unrelated haemophilia B patients, but one had an insertion of a 15 kb Pvu II fragment containing exon d. Using an alternate strategy of polymerase chain reaction (PCR) amplification and direct sequencing, the molecular defect in the other six patients was defined. The four novel mutations characterized were: nucleotide (nt) 6410 G→C (Gly 12→Ala); nt 31261 Δ T (stop codon 31 bp downstream); nt 31260 C→G (Thr 380→Ser) and nt 31122 C→A (Ala 34→Asp). Two patients had the same mutation at nt 6365, G→A (Arg -4→Gln), identical to one previously described in other ethnic groups, suggesting that this is a hotspot for mutation. Each of the mutations was found to affect an enzyme recognition site and could thus be identified by direct visualization of abnormal restriction fragments in amplified genomic DNA. This allows rapid and accurate DNA diagnosis of haemophilia B in an ethnic group which otherwise shows little or no polymorphism for the common RFLP sites.
Persistent Identifierhttp://hdl.handle.net/10722/161900
ISSN
2015 Impact Factor: 5.401
2015 SCImago Journal Rankings: 2.313
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorChan, Ven_US
dc.contributor.authorYip, Ben_US
dc.contributor.authorTong, TMFen_US
dc.contributor.authorChan, TPTen_US
dc.contributor.authorLau, Ken_US
dc.contributor.authorYam, Ien_US
dc.contributor.authorChan, TKen_US
dc.date.accessioned2012-09-05T05:15:55Z-
dc.date.available2012-09-05T05:15:55Z-
dc.date.issued1991en_US
dc.identifier.citationBritish Journal Of Haematology, 1991, v. 79 n. 1, p. 63-69en_US
dc.identifier.issn0007-1048en_US
dc.identifier.urihttp://hdl.handle.net/10722/161900-
dc.description.abstractThe common restriction fragment length polymorphisms (RFLPs) associated with the FIX gene: 5' BamH I, Dde I, BamH I (2), Taq I and 3' Hha I were absent or of low incidence in Southern Chinese and are therefore not useful for linkage analysis. No deletion was detected amongst seven consecutive unrelated haemophilia B patients, but one had an insertion of a 15 kb Pvu II fragment containing exon d. Using an alternate strategy of polymerase chain reaction (PCR) amplification and direct sequencing, the molecular defect in the other six patients was defined. The four novel mutations characterized were: nucleotide (nt) 6410 G→C (Gly 12→Ala); nt 31261 Δ T (stop codon 31 bp downstream); nt 31260 C→G (Thr 380→Ser) and nt 31122 C→A (Ala 34→Asp). Two patients had the same mutation at nt 6365, G→A (Arg -4→Gln), identical to one previously described in other ethnic groups, suggesting that this is a hotspot for mutation. Each of the mutations was found to affect an enzyme recognition site and could thus be identified by direct visualization of abnormal restriction fragments in amplified genomic DNA. This allows rapid and accurate DNA diagnosis of haemophilia B in an ethnic group which otherwise shows little or no polymorphism for the common RFLP sites.en_US
dc.languageengen_US
dc.publisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJHen_US
dc.relation.ispartofBritish Journal of Haematologyen_US
dc.subject.meshBlotting, Southernen_US
dc.subject.meshChromosome Deletionen_US
dc.subject.meshFemaleen_US
dc.subject.meshHemophilia B - Geneticsen_US
dc.subject.meshHeterozygote Detection - Methodsen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMutagenesis, Insertional - Physiologyen_US
dc.subject.meshMutation - Physiologyen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPolymerase Chain Reaction - Methodsen_US
dc.subject.meshPolymorphism, Restriction Fragment Lengthen_US
dc.titleMolecular defects in haemophilia B: Detection by direct restriction enzyme analysisen_US
dc.typeArticleen_US
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_US
dc.identifier.authorityChan, V=rp00320en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1111/j.1365-2141.1991.tb08008.x-
dc.identifier.pmid1680373-
dc.identifier.scopuseid_2-s2.0-0026063167en_US
dc.identifier.volume79en_US
dc.identifier.issue1en_US
dc.identifier.spage63en_US
dc.identifier.epage69en_US
dc.identifier.isiWOS:A1991GE96000011-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridChan, V=7202654865en_US
dc.identifier.scopusauthoridYip, B=16685586100en_US
dc.identifier.scopusauthoridTong, TMF=36784431000en_US
dc.identifier.scopusauthoridChan, TPT=7402687517en_US
dc.identifier.scopusauthoridLau, K=35205833900en_US
dc.identifier.scopusauthoridYam, I=6603358817en_US
dc.identifier.scopusauthoridChan, TK=7402687762en_US

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