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Article: Restriction fragment length polymorphisms associated with factor VIII:C gene in Chinese

TitleRestriction fragment length polymorphisms associated with factor VIII:C gene in Chinese
Authors
Issue Date1988
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Citation
Human Genetics, 1988, v. 79 n. 2, p. 128-131 How to Cite?
AbstractTwenty-six unrelated hemophilia A and 70 unrelated normal chromosomes in 184 subjects were studied to determine the frequencies of intragenic and intergenic restriction fragment length polymorphisms associated with the factor VIII:C gene. The incidences for positive BclI andBglI polymorphic sites in the Chinese were 82% and 100%, respectively. Both were higher than in other ethnic groups, while the incidence for XbaI polymorphism was 57%, which is similar to that reported in Caucasians. Using the St 14.1 probe, two polymorphic TaqI allelic systems in the DXS52 region were detectable, with heterozygous rates of 0.712 (for system I, alleles 1 to 8) and 0.495 (for system II, α and β alleles), respectively. Thus, using a combination of four polymorphisms, it would be possible to offer carrier detection or prenatal diagnosis in 96% of Chinese females at risk.
Persistent Identifierhttp://hdl.handle.net/10722/161744
ISSN
2023 Impact Factor: 3.8
2023 SCImago Journal Rankings: 2.049
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorChan, Ven_HK
dc.contributor.authorChan, TKen_HK
dc.contributor.authorLiu, VWSen_HK
dc.contributor.authorWong, ACKen_HK
dc.date.accessioned2012-09-05T05:14:37Z-
dc.date.available2012-09-05T05:14:37Z-
dc.date.issued1988en_HK
dc.identifier.citationHuman Genetics, 1988, v. 79 n. 2, p. 128-131en_HK
dc.identifier.issn0340-6717en_HK
dc.identifier.urihttp://hdl.handle.net/10722/161744-
dc.description.abstractTwenty-six unrelated hemophilia A and 70 unrelated normal chromosomes in 184 subjects were studied to determine the frequencies of intragenic and intergenic restriction fragment length polymorphisms associated with the factor VIII:C gene. The incidences for positive BclI andBglI polymorphic sites in the Chinese were 82% and 100%, respectively. Both were higher than in other ethnic groups, while the incidence for XbaI polymorphism was 57%, which is similar to that reported in Caucasians. Using the St 14.1 probe, two polymorphic TaqI allelic systems in the DXS52 region were detectable, with heterozygous rates of 0.712 (for system I, alleles 1 to 8) and 0.495 (for system II, α and β alleles), respectively. Thus, using a combination of four polymorphisms, it would be possible to offer carrier detection or prenatal diagnosis in 96% of Chinese females at risk.en_HK
dc.languageengen_US
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htmen_HK
dc.relation.ispartofHuman Geneticsen_HK
dc.subject.meshChina - Ethnologyen_US
dc.subject.meshFactor Viii - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene Frequencyen_US
dc.subject.meshHemophilia A - Geneticsen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHong Kongen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPolymorphism, Geneticen_US
dc.subject.meshPolymorphism, Restriction Fragment Lengthen_US
dc.titleRestriction fragment length polymorphisms associated with factor VIII:C gene in Chineseen_HK
dc.typeArticleen_HK
dc.identifier.emailChan, V: vnychana@hkucc.hku.hken_HK
dc.identifier.emailLiu, VWS: vwsliu@hkusua.hku.hken_HK
dc.identifier.authorityChan, V=rp00320en_HK
dc.identifier.authorityLiu, VWS=rp00341en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1007/BF00280550-
dc.identifier.pmid2899053-
dc.identifier.scopuseid_2-s2.0-0023714172en_HK
dc.identifier.volume79en_HK
dc.identifier.issue2en_HK
dc.identifier.spage128en_HK
dc.identifier.epage131en_HK
dc.identifier.isiWOS:A1988P119100006-
dc.publisher.placeGermanyen_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK
dc.identifier.scopusauthoridChan, TK=7402687762en_HK
dc.identifier.scopusauthoridLiu, VWS=7006405113en_HK
dc.identifier.scopusauthoridWong, ACK=7403147528en_HK
dc.identifier.issnl0340-6717-

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