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

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TitleMultiple XbaI polymorphisms for carrier detection and prenatal diagnosis of haemophilia A
AuthorsChan, V1
Tong, TMF1
Chan, TPT1
Tang, M1
Wan, CW1
Chan, FY1
Chu, YC1
Chan, TK1
Issue Date1989
PublisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJH
CitationBritish Journal Of Haematology, 1989, v. 73 n. 4, p. 497-500 [How to Cite?]
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.
ISSN0007-1048
2011 Impact Factor: 4.941
2011 SCImago Journal Rankings: 0.586
DC Field
Value
dc.contributor.authorChan, V
dc.contributor.authorTong, TMF
dc.contributor.authorChan, TPT
dc.contributor.authorTang, M
dc.contributor.authorWan, CW
dc.contributor.authorChan, FY
dc.contributor.authorChu, YC
dc.contributor.authorChan, TK
dc.date.accessioned2012-09-05T05:15:13Z
dc.date.available2012-09-05T05:15:13Z
dc.date.issued1989
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.
dc.description.natureLink_to_subscribed_fulltext
dc.identifier.citationBritish Journal Of Haematology, 1989, v. 73 n. 4, p. 497-500 [How to Cite?]
dc.identifier.epage500
dc.identifier.issn0007-1048
2011 Impact Factor: 4.941
2011 SCImago Journal Rankings: 0.586
dc.identifier.issue4
dc.identifier.pmid2575402
dc.identifier.scopuseid_2-s2.0-0024840950
dc.identifier.spage497
dc.identifier.urihttp://hdl.handle.net/10722/161811
dc.identifier.volume73
dc.languageeng
dc.publisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJH
dc.publisher.placeUnited Kingdom
dc.relation.ispartofBritish Journal of Haematology
dc.subject.meshFactor Viii - Genetics
dc.subject.meshFemale
dc.subject.meshGenetic Linkage
dc.subject.meshHemophilia A - Diagnosis - Genetics
dc.subject.meshHeterozygote Detection
dc.subject.meshHumans
dc.subject.meshIntrons
dc.subject.meshMale
dc.subject.meshPolymorphism, Restriction Fragment Length
dc.subject.meshPregnancy
dc.subject.meshPrenatal Diagnosis
dc.subject.meshX Chromosome
dc.titleMultiple XbaI polymorphisms for carrier detection and prenatal diagnosis of haemophilia A
dc.typeArticle
Author Affiliations
  1. The University of Hong Kong