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Article: Application of DNA polymorphisms for prenatal diagnosis of β thalassemia in Chinese

TitleApplication of DNA polymorphisms for prenatal diagnosis of β thalassemia in Chinese
Authors
Issue Date1987
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/35105
Citation
American Journal Of Hematology, 1987, v. 25 n. 4, p. 409-415 How to Cite?
AbstractForty-seven Chinese suffering from β thalassemia major and their parents were studied to establish linkage of the β(thal) and β(A) genes with 11 restriction site polymorphisms. There is marked linkage disequilibrium at the BamH I site 3' to the β globin gene, such that, in 31% of pregnancies, absence of the site in the fetus can exclude β thalassemia major. Using four restriciton sites (Hinc II ψβ, Ava II β, Hind III β, and BamH I β), prenatal diagnosis is feasible in all families. In 46% of all cases, a definitive diagnosis can be made, and in the remaining cases, a 50% chance of exclusion is possible. Fetal blood globin chain analysis would be required for the failures. Our experience in nine successive β thalassemia prenatal diagnosis is also reported.
Persistent Identifierhttp://hdl.handle.net/10722/161741
ISSN
2015 Impact Factor: 5.0
2015 SCImago Journal Rankings: 1.761
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorChan, Ven_US
dc.contributor.authorChan, TKen_US
dc.contributor.authorGhosh, Aen_US
dc.contributor.authorWong, LCen_US
dc.contributor.authorMa, HKen_US
dc.contributor.authorKan, YWen_US
dc.contributor.authorTodd, Den_US
dc.date.accessioned2012-09-05T05:14:36Z-
dc.date.available2012-09-05T05:14:36Z-
dc.date.issued1987en_US
dc.identifier.citationAmerican Journal Of Hematology, 1987, v. 25 n. 4, p. 409-415en_US
dc.identifier.issn0361-8609en_US
dc.identifier.urihttp://hdl.handle.net/10722/161741-
dc.description.abstractForty-seven Chinese suffering from β thalassemia major and their parents were studied to establish linkage of the β(thal) and β(A) genes with 11 restriction site polymorphisms. There is marked linkage disequilibrium at the BamH I site 3' to the β globin gene, such that, in 31% of pregnancies, absence of the site in the fetus can exclude β thalassemia major. Using four restriciton sites (Hinc II ψβ, Ava II β, Hind III β, and BamH I β), prenatal diagnosis is feasible in all families. In 46% of all cases, a definitive diagnosis can be made, and in the remaining cases, a 50% chance of exclusion is possible. Fetal blood globin chain analysis would be required for the failures. Our experience in nine successive β thalassemia prenatal diagnosis is also reported.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/35105en_US
dc.relation.ispartofAmerican Journal of Hematologyen_US
dc.subject.meshChinaen_US
dc.subject.meshDna - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshFetal Blood - Analysisen_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.subject.meshPregnancyen_US
dc.subject.meshPrenatal Diagnosis - Methodsen_US
dc.subject.meshThalassemia - Diagnosis - Geneticsen_US
dc.titleApplication of DNA polymorphisms for prenatal diagnosis of β thalassemia in Chineseen_US
dc.typeArticleen_US
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_US
dc.identifier.authorityChan, V=rp00320en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/ajh.2830250407-
dc.identifier.pmid2887108-
dc.identifier.scopuseid_2-s2.0-0023636441en_US
dc.identifier.volume25en_US
dc.identifier.issue4en_US
dc.identifier.spage409en_US
dc.identifier.epage415en_US
dc.identifier.isiWOS:A1987J621800006-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridChan, V=7202654865en_US
dc.identifier.scopusauthoridChan, TK=7402687762en_US
dc.identifier.scopusauthoridGhosh, A=7403963873en_US
dc.identifier.scopusauthoridWong, LC=7402092003en_US
dc.identifier.scopusauthoridMa, HK=7403095603en_US
dc.identifier.scopusauthoridKan, YW=7102524964en_US
dc.identifier.scopusauthoridTodd, D=7201388182en_US

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