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Article: Multiple XbaI polymorphisms for carrier detection and prenatal diagnosis of haemophilia A

TitleMultiple XbaI polymorphisms for carrier detection and prenatal diagnosis of haemophilia A
Authors
Issue Date1989
PublisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJH
Citation
British Journal Of Haematology, 1989, v. 73 n. 4, p. 497-500 How to Cite?
Abstract
Three XbaI restriction fragment length polymorphisms (RFLPs) can be detected using the factor VIII-intron 22 probe (p482.6) in a XbaI-KpnI double digest of genomic DNA. The XbaI (A) site had been reported by Wion et al (1986) to be in intron 22, while the two additional sites, XbaI (B) and XbaI (C), are shown here to be X-linked and close to the XbaI (A) site. The frequencies of heterozygosity for these three sites are 0.49, 0.18 and 0.30 respectively. In 75 females the observed heterozygosity rate for the XbaI (A) site is 0.41 and this increased to 0.57 with the two additional sites. Care should be exercised when interpreting the XbaI RFLPs, since the 1.4 kb XbaI/KpnI fragment and the 4.8 kb XbaI fragment are associated with both positive XbaI (A) and XbaI (B) sites. By the combined use of the multiple XbaI polymorphisms with the BclI site in intron 18, the carrier detection rate would increase to 67%. Four prenatal diagnoses had been performed using the multiple XbaI polymorphisms.
Persistent Identifierhttp://hdl.handle.net/10722/161811
ISSN
2013 Impact Factor: 4.959
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorChan, Ven_HK
dc.contributor.authorTong, TMFen_HK
dc.contributor.authorChan, TPTen_HK
dc.contributor.authorTang, Men_HK
dc.contributor.authorWan, CWen_HK
dc.contributor.authorChan, FYen_HK
dc.contributor.authorChu, YCen_HK
dc.contributor.authorChan, TKen_HK
dc.date.accessioned2012-09-05T05:15:13Z-
dc.date.available2012-09-05T05:15:13Z-
dc.date.issued1989en_HK
dc.identifier.citationBritish Journal Of Haematology, 1989, v. 73 n. 4, p. 497-500en_HK
dc.identifier.issn0007-1048en_HK
dc.identifier.urihttp://hdl.handle.net/10722/161811-
dc.description.abstractThree XbaI restriction fragment length polymorphisms (RFLPs) can be detected using the factor VIII-intron 22 probe (p482.6) in a XbaI-KpnI double digest of genomic DNA. The XbaI (A) site had been reported by Wion et al (1986) to be in intron 22, while the two additional sites, XbaI (B) and XbaI (C), are shown here to be X-linked and close to the XbaI (A) site. The frequencies of heterozygosity for these three sites are 0.49, 0.18 and 0.30 respectively. In 75 females the observed heterozygosity rate for the XbaI (A) site is 0.41 and this increased to 0.57 with the two additional sites. Care should be exercised when interpreting the XbaI RFLPs, since the 1.4 kb XbaI/KpnI fragment and the 4.8 kb XbaI fragment are associated with both positive XbaI (A) and XbaI (B) sites. By the combined use of the multiple XbaI polymorphisms with the BclI site in intron 18, the carrier detection rate would increase to 67%. Four prenatal diagnoses had been performed using the multiple XbaI polymorphisms.en_HK
dc.languageengen_US
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.subject.meshFactor Viii - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Linkageen_US
dc.subject.meshHemophilia A - Diagnosis - Geneticsen_US
dc.subject.meshHeterozygote Detectionen_US
dc.subject.meshHumansen_US
dc.subject.meshIntronsen_US
dc.subject.meshMaleen_US
dc.subject.meshPolymorphism, Restriction Fragment Lengthen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPrenatal Diagnosisen_US
dc.subject.meshX Chromosomeen_US
dc.titleMultiple XbaI polymorphisms for carrier detection and prenatal diagnosis of haemophilia Aen_HK
dc.typeArticleen_HK
dc.identifier.emailChan, V: vnychana@hkucc.hku.hken_HK
dc.identifier.emailTang, M: mhytang@hkucc.hku.hken_HK
dc.identifier.authorityChan, V=rp00320en_HK
dc.identifier.authorityTang, M=rp01701en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1111/j.1365-2141.1989.tb00287.x-
dc.identifier.pmid2575402en_HK
dc.identifier.scopuseid_2-s2.0-0024840950en_HK
dc.identifier.volume73en_HK
dc.identifier.issue4en_HK
dc.identifier.spage497en_HK
dc.identifier.epage500en_HK
dc.identifier.isiWOS:A1989CE16300008-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK
dc.identifier.scopusauthoridTong, TMF=36784431000en_HK
dc.identifier.scopusauthoridChan, TPT=7402687517en_HK
dc.identifier.scopusauthoridTang, M=8943401300en_HK
dc.identifier.scopusauthoridWan, CW=7201485124en_HK
dc.identifier.scopusauthoridChan, FY=7202586500en_HK
dc.identifier.scopusauthoridChu, YC=36928634600en_HK
dc.identifier.scopusauthoridChan, TK=7402687762en_HK

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