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Article: A thalassaemia array for Southeast Asia

TitleA thalassaemia array for Southeast Asia
Authors
KeywordsAllele-specific arrayed primer extension
Array
Thalassaemia
Issue Date2004
PublisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJH
Citation
British Journal Of Haematology, 2004, v. 124 n. 2, p. 232-239 How to Cite?
AbstractThe α and β thalassaemias are the commonest genetic disorders worldwide. The homozygous state is associated with high morbidity and mortality, thus screening of at-risk pregnancies and prenatal testing are strongly advocated. A thalassaemia (thal) array has been designed using allele-specific arrayed primer extension (AS-APEX) for the simultaneous analysis of 15 non-deletion α-gene defects and 23 β-gene mutations commonly found in southeast Asian countries, where thalassaemias are highly prevalent. This overcomes the problem of using multiple reverse dot blot analysis. The array showed 100% sensitivity and specificity in the detection of 120 β-thal mutants and 35 non-deletion α-thal mutants. It is robust enough to be produced in a single place and shipped to other laboratories for use. The production cost of the array is low, each slide can be used for three different test samples and is therefore amenable to large scale antenatal screening in southeast Asian countries.
Persistent Identifierhttp://hdl.handle.net/10722/76883
ISSN
2015 Impact Factor: 5.401
2015 SCImago Journal Rankings: 2.313
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChan, Ken_HK
dc.contributor.authorWong, MSen_HK
dc.contributor.authorChan, TKen_HK
dc.contributor.authorChan, Ven_HK
dc.date.accessioned2010-09-06T07:25:56Z-
dc.date.available2010-09-06T07:25:56Z-
dc.date.issued2004en_HK
dc.identifier.citationBritish Journal Of Haematology, 2004, v. 124 n. 2, p. 232-239en_HK
dc.identifier.issn0007-1048en_HK
dc.identifier.urihttp://hdl.handle.net/10722/76883-
dc.description.abstractThe α and β thalassaemias are the commonest genetic disorders worldwide. The homozygous state is associated with high morbidity and mortality, thus screening of at-risk pregnancies and prenatal testing are strongly advocated. A thalassaemia (thal) array has been designed using allele-specific arrayed primer extension (AS-APEX) for the simultaneous analysis of 15 non-deletion α-gene defects and 23 β-gene mutations commonly found in southeast Asian countries, where thalassaemias are highly prevalent. This overcomes the problem of using multiple reverse dot blot analysis. The array showed 100% sensitivity and specificity in the detection of 120 β-thal mutants and 35 non-deletion α-thal mutants. It is robust enough to be produced in a single place and shipped to other laboratories for use. The production cost of the array is low, each slide can be used for three different test samples and is therefore amenable to large scale antenatal screening in southeast Asian countries.en_HK
dc.languageengen_HK
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.rightsBritish Journal of Haematology. Copyright © Blackwell Publishing Ltd.en_HK
dc.subjectAllele-specific arrayed primer extensionen_HK
dc.subjectArrayen_HK
dc.subjectThalassaemiaen_HK
dc.subject.meshAsia, Southeasternen_HK
dc.subject.meshBase Sequenceen_HK
dc.subject.meshHomozygoteen_HK
dc.subject.meshHumansen_HK
dc.subject.meshImmunoblottingen_HK
dc.subject.meshMolecular Sequence Dataen_HK
dc.subject.meshMutation - geneticsen_HK
dc.subject.meshOligonucleotide Array Sequence Analysisen_HK
dc.subject.meshalpha-Thalassemia - geneticsen_HK
dc.subject.meshbeta-Thalassemia - geneticsen_HK
dc.titleA thalassaemia array for Southeast Asiaen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0007-1048&volume=124&spage=232&epage=239&date=2004&atitle=A+Thalassaemia+Array+For+Southeast+Asiaen_HK
dc.identifier.emailChan, K: kaimin@hkucc.hku.hken_HK
dc.identifier.emailChan, V: vnychana@hkucc.hku.hken_HK
dc.identifier.authorityChan, K=rp00489en_HK
dc.identifier.authorityChan, V=rp00320en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1046/j.1365-2141.2003.04758.xen_HK
dc.identifier.pmid14687035-
dc.identifier.scopuseid_2-s2.0-1642580492en_HK
dc.identifier.hkuros86285en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-1642580492&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume124en_HK
dc.identifier.issue2en_HK
dc.identifier.spage232en_HK
dc.identifier.epage239en_HK
dc.identifier.isiWOS:000187448600016-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridChan, K=7406032228en_HK
dc.identifier.scopusauthoridWong, MS=35773949100en_HK
dc.identifier.scopusauthoridChan, TK=7402687762en_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK

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