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Article: Detection of paternal alleles in maternal plasma for non-invasive prenatal diagnosis of β-thalassemia: A feasibility study in southern Chinese

TitleDetection of paternal alleles in maternal plasma for non-invasive prenatal diagnosis of β-thalassemia: A feasibility study in southern Chinese
Authors
KeywordsInformative SNP
Maternal-plasma DNA
Non-invasive prenatal diagnosis
Paternal mutation
Issue Date2010
PublisherElsevier Ireland Ltd. The Journal's web site is located at http://www.elsevier.com/locate/ejogrb
Citation
European Journal Of Obstetrics Gynecology And Reproductive Biology, 2010, v. 150 n. 1, p. 28-33 How to Cite?
AbstractObjective: To evaluate in maternal plasma, the efficacy of detecting the paternal β-gene mutation and informative single nucleotide polymorphisms (SNPs) linked to the paternal-mutant or -normal allele in non-invasive prenatal diagnosis (NIPND). Study design: In 20 at-risk pregnancies, using the allele-specific arrayed primer extension (AS-APEX) technology of the previously published "Thalassemia" array, cyanine-5-deoxycytosine triphosphate (Cy5-dCTP) was incorporated into the extended strands to matched PCR-amplified maternal plasma DNA templates, to detect both the paternal β-gene mutation and informative paternal SNPs. Results: Sensitivity experiment showed that 5 pg DNA as starting template gave detectable signals on the array. In 13 cases (65%), the paternal-derived β-gene mutation and/or informative mutant-associated SNP were detected. A subsequent invasive procedure was required to determine if the fetus had a β-thalassemia (thal) major or minor genotype. In 3 cases (15%), absence of the paternal mutant or mutant-associated SNP excluded a β-thal major fetus; while in 4 cases (20%), this approach was non-discriminative as both parents carry the same mutation without any informative SNP. Conclusion: This approach was useful in 16 out of 20 (80%) pregnancies at risk for β-thal in southern Chinese. © 2010 Elsevier Ireland Ltd. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/163299
ISSN
2015 Impact Factor: 1.662
2015 SCImago Journal Rankings: 0.808
ISI Accession Number ID
Funding AgencyGrant Number
Children's Thalassaemia Foundation
Chui Fook-Chuen Foundation
Funding Information:

The authors gratefully acknowledge the support of the Children's Thalassaemia Foundation and the Chui Fook-Chuen Foundation.

References

 

DC FieldValueLanguage
dc.contributor.authorChan, Ken_HK
dc.contributor.authorYam, Ien_HK
dc.contributor.authorLeung, KYen_HK
dc.contributor.authorTang, Men_HK
dc.contributor.authorChan, TKen_HK
dc.contributor.authorChan, Ven_HK
dc.date.accessioned2012-09-05T05:29:50Z-
dc.date.available2012-09-05T05:29:50Z-
dc.date.issued2010en_HK
dc.identifier.citationEuropean Journal Of Obstetrics Gynecology And Reproductive Biology, 2010, v. 150 n. 1, p. 28-33en_HK
dc.identifier.issn0301-2115en_HK
dc.identifier.urihttp://hdl.handle.net/10722/163299-
dc.description.abstractObjective: To evaluate in maternal plasma, the efficacy of detecting the paternal β-gene mutation and informative single nucleotide polymorphisms (SNPs) linked to the paternal-mutant or -normal allele in non-invasive prenatal diagnosis (NIPND). Study design: In 20 at-risk pregnancies, using the allele-specific arrayed primer extension (AS-APEX) technology of the previously published "Thalassemia" array, cyanine-5-deoxycytosine triphosphate (Cy5-dCTP) was incorporated into the extended strands to matched PCR-amplified maternal plasma DNA templates, to detect both the paternal β-gene mutation and informative paternal SNPs. Results: Sensitivity experiment showed that 5 pg DNA as starting template gave detectable signals on the array. In 13 cases (65%), the paternal-derived β-gene mutation and/or informative mutant-associated SNP were detected. A subsequent invasive procedure was required to determine if the fetus had a β-thalassemia (thal) major or minor genotype. In 3 cases (15%), absence of the paternal mutant or mutant-associated SNP excluded a β-thal major fetus; while in 4 cases (20%), this approach was non-discriminative as both parents carry the same mutation without any informative SNP. Conclusion: This approach was useful in 16 out of 20 (80%) pregnancies at risk for β-thal in southern Chinese. © 2010 Elsevier Ireland Ltd. All rights reserved.en_HK
dc.languageengen_US
dc.publisherElsevier Ireland Ltd. The Journal's web site is located at http://www.elsevier.com/locate/ejogrben_HK
dc.relation.ispartofEuropean Journal of Obstetrics Gynecology and Reproductive Biologyen_HK
dc.rightsEuropean Journal of Obstetrics & Gynecology and Reproductive Biology. Copyright © Elsevier Ireland Ltd.-
dc.subjectInformative SNPen_HK
dc.subjectMaternal-plasma DNAen_HK
dc.subjectNon-invasive prenatal diagnosisen_HK
dc.subjectPaternal mutationen_HK
dc.subject.meshAllelesen_US
dc.subject.meshAsian Continental Ancestry Group - Geneticsen_US
dc.subject.meshCarbocyanines - Diagnostic Useen_US
dc.subject.meshDeoxycytosine Nucleotides - Diagnostic Useen_US
dc.subject.meshFathersen_US
dc.subject.meshFeasibility Studiesen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshPolymerase Chain Reaction - Methodsen_US
dc.subject.meshPolymorphism, Single Nucleotideen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPrenatal Diagnosis - Methodsen_US
dc.subject.meshBeta-Globins - Geneticsen_US
dc.subject.meshBeta-Thalassemia - Diagnosis - Geneticsen_US
dc.titleDetection of paternal alleles in maternal plasma for non-invasive prenatal diagnosis of β-thalassemia: A feasibility study in southern Chineseen_HK
dc.typeArticleen_HK
dc.identifier.emailChan, K: kaimin@hkucc.hku.hken_HK
dc.identifier.emailTang, M: mhytang@hkucc.hku.hken_HK
dc.identifier.emailChan, V: vnychana@hkucc.hku.hken_HK
dc.identifier.authorityChan, K=rp00489en_HK
dc.identifier.authorityTang, M=rp01701en_HK
dc.identifier.authorityChan, V=rp00320en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1016/j.ejogrb.2010.02.016en_HK
dc.identifier.pmid20206431-
dc.identifier.scopuseid_2-s2.0-77950518486en_HK
dc.identifier.hkuros170212-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-77950518486&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume150en_HK
dc.identifier.issue1en_HK
dc.identifier.spage28en_HK
dc.identifier.epage33en_HK
dc.identifier.isiWOS:000277873200006-
dc.publisher.placeIrelanden_HK
dc.identifier.scopusauthoridChan, K=7406032228en_HK
dc.identifier.scopusauthoridYam, I=6603358817en_HK
dc.identifier.scopusauthoridLeung, KY=8247106900en_HK
dc.identifier.scopusauthoridTang, M=8943401300en_HK
dc.identifier.scopusauthoridChan, TK=7402687762en_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK
dc.identifier.citeulike6833656-

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