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Article: Quantitative polmerase chain reaction for the rapid prenatal diagnosis of homozygous α-thalassaemia (HB Barts hydrops fetalis)

TitleQuantitative polmerase chain reaction for the rapid prenatal diagnosis of homozygous α-thalassaemia (HB Barts hydrops fetalis)
Authors
Keywordsα̊-thalassaemia
Hydrops fetalis
Prenatal diagnosis
Q-PCR
Issue Date2001
PublisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJH
Citation
British Journal Of Haematology, 2001, v. 115 n. 2, p. 341-346 How to Cite?
AbstractA quantitative polymerase chain reaction (Q-PCR) method based on the TaqMan technology has been devised for the prenatal diagnosis of homozygous α̊-thalassaemia (south-east Asian type deletion). Primers and TaqMan probes were designed to specifically amplify an α̊-thal chromosomal fragment or a normal α-chromosomal fragment. Variations in input target DNA in individual sample wells were normalized by the simultaneous amplification of a β-actin gene fragment and results expressed as a ratio to that of β-actin. There was no overlap of the data between the homozygous α̊-thal, α̊-thal and normal subjects. Up to 5% maternal DNA (α̊-thal) contamination did not affect the specificity of the result. In 31 prenatal diagnoses, the result using Q-PCR compared favourably with the gold standard of Southern hybridization of α-genes.
Persistent Identifierhttp://hdl.handle.net/10722/162538
ISSN
2023 Impact Factor: 5.1
2023 SCImago Journal Rankings: 1.574
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChan, Ven_US
dc.contributor.authorYip, Ben_US
dc.contributor.authorLam, YHen_US
dc.contributor.authorTse, HYen_US
dc.contributor.authorWong, HSen_US
dc.contributor.authorChan, TKen_US
dc.date.accessioned2012-09-05T05:20:54Z-
dc.date.available2012-09-05T05:20:54Z-
dc.date.issued2001en_US
dc.identifier.citationBritish Journal Of Haematology, 2001, v. 115 n. 2, p. 341-346en_US
dc.identifier.issn0007-1048en_US
dc.identifier.urihttp://hdl.handle.net/10722/162538-
dc.description.abstractA quantitative polymerase chain reaction (Q-PCR) method based on the TaqMan technology has been devised for the prenatal diagnosis of homozygous α̊-thalassaemia (south-east Asian type deletion). Primers and TaqMan probes were designed to specifically amplify an α̊-thal chromosomal fragment or a normal α-chromosomal fragment. Variations in input target DNA in individual sample wells were normalized by the simultaneous amplification of a β-actin gene fragment and results expressed as a ratio to that of β-actin. There was no overlap of the data between the homozygous α̊-thal, α̊-thal and normal subjects. Up to 5% maternal DNA (α̊-thal) contamination did not affect the specificity of the result. In 31 prenatal diagnoses, the result using Q-PCR compared favourably with the gold standard of Southern hybridization of α-genes.en_US
dc.languageengen_US
dc.publisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJHen_US
dc.relation.ispartofBritish Journal of Haematologyen_US
dc.subjectα̊-thalassaemia-
dc.subjectHydrops fetalis-
dc.subjectPrenatal diagnosis-
dc.subjectQ-PCR-
dc.subject.meshActins - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshHomozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshHydrops Fetalis - Diagnosis - Geneticsen_US
dc.subject.meshPolymerase Chain Reaction - Methodsen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPrenatal Diagnosis - Methodsen_US
dc.subject.meshAlpha-Thalassemia - Diagnosis - Geneticsen_US
dc.titleQuantitative polmerase chain reaction for the rapid prenatal diagnosis of homozygous α-thalassaemia (HB Barts hydrops fetalis)en_US
dc.typeArticleen_US
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_US
dc.identifier.authorityChan, V=rp00320en_US
dc.description.naturelink_to_OA_fulltexten_US
dc.identifier.doi10.1046/j.1365-2141.2001.03112.xen_US
dc.identifier.pmid11703333-
dc.identifier.scopuseid_2-s2.0-0035542730en_US
dc.identifier.hkuros66992-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0035542730&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume115en_US
dc.identifier.issue2en_US
dc.identifier.spage341en_US
dc.identifier.epage346en_US
dc.identifier.isiWOS:000172403300019-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridChan, V=7202654865en_US
dc.identifier.scopusauthoridYip, B=16685586100en_US
dc.identifier.scopusauthoridLam, YH=7202563903en_US
dc.identifier.scopusauthoridTse, HY=36772585300en_US
dc.identifier.scopusauthoridWong, HS=7402864769en_US
dc.identifier.scopusauthoridChan, TK=7402687762en_US
dc.identifier.issnl0007-1048-

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