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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
2013 Impact Factor: 4.959
 
DC FieldValue
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
2013 Impact Factor: 4.959
 
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
 
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<contributor.author>Tong, TMF</contributor.author>
<contributor.author>Chan, TPT</contributor.author>
<contributor.author>Tang, M</contributor.author>
<contributor.author>Wan, CW</contributor.author>
<contributor.author>Chan, FY</contributor.author>
<contributor.author>Chu, YC</contributor.author>
<contributor.author>Chan, TK</contributor.author>
<date.accessioned>2012-09-05T05:15:13Z</date.accessioned>
<date.available>2012-09-05T05:15:13Z</date.available>
<date.issued>1989</date.issued>
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<description.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.</description.abstract>
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<subject.mesh>Factor Viii - Genetics</subject.mesh>
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<subject.mesh>Introns</subject.mesh>
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Author Affiliations
  1. The University of Hong Kong