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Article: Intragenic dinucleotide repeats in factor VIII gene for the diagnosis of haemophilia A

TitleIntragenic dinucleotide repeats in factor VIII gene for the diagnosis of haemophilia A
Authors
Yip, BChan, VChan, TK
KeywordsCarrier diagnosis
Genetic diagnosis
Haemophilia A
Microsatellite repetat polymorphisms,
RFLP
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. 88 n. 4, p. 889-891 How to Cite?
DOI: http://dx.doi.org/10.1111/j.1365-2141.1994.tb05134.x
AbstractTwo multi-allelic microsatellite polymorphisms within the factor VIII gene were studied in 138 Chinese subjects. The allele sizes detected were higher than those found in Caucasian populations, whereas the heterozygosity rates were lower, being 0.5370 for intron 13 and 0.4444 for intron 22 repeats respectively. Their usefulness in diagnosis was compared to other intragenic and extragenic RELPs, using previous data on the same 31 unrelated haemophilia A families. These intragenic microsatellite repeat polymorphisms were only informative for 18/31 families (58%); however, with the combined use of all existing RFLPs, the cumulative informativeness would be 100%.
Persistent Identifierhttp://hdl.handle.net/10722/77786
ISSN
0007-1048
2021 Impact Factor: 8.615
2020 SCImago Journal Rankings: 1.907
ISI Accession Number ID
WOS:A1994PW37500033

 

DC FieldValueLanguage
dc.contributor.authorYip, Ben_HK
dc.contributor.authorChan, Ven_HK
dc.contributor.authorChan, TKen_HK
dc.date.accessioned2010-09-06T07:35:43Z-
dc.date.available2010-09-06T07:35:43Z-
dc.date.issued1994en_HK
dc.identifier.citationBritish Journal Of Haematology, 1994, v. 88 n. 4, p. 889-891en_HK
dc.identifier.issn0007-1048en_HK
dc.identifier.urihttp://hdl.handle.net/10722/77786-
dc.description.abstractTwo multi-allelic microsatellite polymorphisms within the factor VIII gene were studied in 138 Chinese subjects. The allele sizes detected were higher than those found in Caucasian populations, whereas the heterozygosity rates were lower, being 0.5370 for intron 13 and 0.4444 for intron 22 repeats respectively. Their usefulness in diagnosis was compared to other intragenic and extragenic RELPs, using previous data on the same 31 unrelated haemophilia A families. These intragenic microsatellite repeat polymorphisms were only informative for 18/31 families (58%); however, with the combined use of all existing RFLPs, the cumulative informativeness would be 100%.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.subjectCarrier diagnosis-
dc.subjectGenetic diagnosis-
dc.subjectHaemophilia A-
dc.subjectMicrosatellite repetat polymorphisms,-
dc.subjectRFLP-
dc.subject.meshAsian Continental Ancestry Groupen_HK
dc.subject.meshFactor VIII - geneticsen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshGenetic Linkageen_HK
dc.subject.meshHemophilia A - diagnosis - geneticsen_HK
dc.subject.meshHeterozygote Detection - methodsen_HK
dc.subject.meshHong Kongen_HK
dc.subject.meshHumansen_HK
dc.subject.meshIntronsen_HK
dc.subject.meshMaleen_HK
dc.subject.meshPolymorphism, Geneticen_HK
dc.subject.meshPolymorphism, Restriction Fragment Lengthen_HK
dc.subject.meshRepetitive Sequences, Nucleic Aciden_HK
dc.subject.meshX Chromosomeen_HK
dc.titleIntragenic dinucleotide repeats in factor VIII gene for the diagnosis of haemophilia Aen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0007-1048&volume=88&spage=889&epage=891&date=1994&atitle=Intragenic+dinucleotide+repeats+in+factor+VIII+gene+for+the+diagnosis+of+haemophilia+Aen_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.tb05134.x-
dc.identifier.pmid7819115-
dc.identifier.scopuseid_2-s2.0-0028099158en_HK
dc.identifier.hkuros4701en_HK
dc.identifier.volume88en_HK
dc.identifier.issue4en_HK
dc.identifier.spage889en_HK
dc.identifier.epage891en_HK
dc.identifier.isiWOS:A1994PW37500033-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridYip, B=16685586100en_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK
dc.identifier.scopusauthoridChan, TK=7402687762en_HK
dc.identifier.issnl0007-1048-

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