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- Publisher Website: 10.1016/j.ejogrb.2010.02.016
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- PMID: 20206431
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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
Title | Detection of paternal alleles in maternal plasma for non-invasive prenatal diagnosis of β-thalassemia: A feasibility study in southern Chinese | ||||||
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Authors | |||||||
Keywords | Informative SNP Maternal-plasma DNA Non-invasive prenatal diagnosis Paternal mutation | ||||||
Issue Date | 2010 | ||||||
Publisher | Elsevier 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? | ||||||
Abstract | Objective: 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 Identifier | http://hdl.handle.net/10722/163299 | ||||||
ISSN | 2023 Impact Factor: 2.1 2023 SCImago Journal Rankings: 0.780 | ||||||
ISI Accession Number ID |
Funding Information: The authors gratefully acknowledge the support of the Children's Thalassaemia Foundation and the Chui Fook-Chuen Foundation. | ||||||
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Chan, K | en_HK |
dc.contributor.author | Yam, I | en_HK |
dc.contributor.author | Leung, KY | en_HK |
dc.contributor.author | Tang, M | en_HK |
dc.contributor.author | Chan, TK | en_HK |
dc.contributor.author | Chan, V | en_HK |
dc.date.accessioned | 2012-09-05T05:29:50Z | - |
dc.date.available | 2012-09-05T05:29:50Z | - |
dc.date.issued | 2010 | en_HK |
dc.identifier.citation | European Journal Of Obstetrics Gynecology And Reproductive Biology, 2010, v. 150 n. 1, p. 28-33 | en_HK |
dc.identifier.issn | 0301-2115 | en_HK |
dc.identifier.uri | http://hdl.handle.net/10722/163299 | - |
dc.description.abstract | Objective: 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.language | eng | en_US |
dc.publisher | Elsevier Ireland Ltd. The Journal's web site is located at http://www.elsevier.com/locate/ejogrb | en_HK |
dc.relation.ispartof | European Journal of Obstetrics Gynecology and Reproductive Biology | en_HK |
dc.rights | European Journal of Obstetrics & Gynecology and Reproductive Biology. Copyright © Elsevier Ireland Ltd. | - |
dc.subject | Informative SNP | en_HK |
dc.subject | Maternal-plasma DNA | en_HK |
dc.subject | Non-invasive prenatal diagnosis | en_HK |
dc.subject | Paternal mutation | en_HK |
dc.subject.mesh | Alleles | en_US |
dc.subject.mesh | Asian Continental Ancestry Group - Genetics | en_US |
dc.subject.mesh | Carbocyanines - Diagnostic Use | en_US |
dc.subject.mesh | Deoxycytosine Nucleotides - Diagnostic Use | en_US |
dc.subject.mesh | Fathers | en_US |
dc.subject.mesh | Feasibility Studies | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Polymerase Chain Reaction - Methods | en_US |
dc.subject.mesh | Polymorphism, Single Nucleotide | en_US |
dc.subject.mesh | Pregnancy | en_US |
dc.subject.mesh | Prenatal Diagnosis - Methods | en_US |
dc.subject.mesh | Beta-Globins - Genetics | en_US |
dc.subject.mesh | Beta-Thalassemia - Diagnosis - Genetics | en_US |
dc.title | Detection of paternal alleles in maternal plasma for non-invasive prenatal diagnosis of β-thalassemia: A feasibility study in southern Chinese | en_HK |
dc.type | Article | en_HK |
dc.identifier.email | Chan, K: kaimin@hkucc.hku.hk | en_HK |
dc.identifier.email | Tang, M: mhytang@hkucc.hku.hk | en_HK |
dc.identifier.email | Chan, V: vnychana@hkucc.hku.hk | en_HK |
dc.identifier.authority | Chan, K=rp00489 | en_HK |
dc.identifier.authority | Tang, M=rp01701 | en_HK |
dc.identifier.authority | Chan, V=rp00320 | en_HK |
dc.description.nature | link_to_subscribed_fulltext | en_US |
dc.identifier.doi | 10.1016/j.ejogrb.2010.02.016 | en_HK |
dc.identifier.pmid | 20206431 | - |
dc.identifier.scopus | eid_2-s2.0-77950518486 | en_HK |
dc.identifier.hkuros | 170212 | - |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-77950518486&selection=ref&src=s&origin=recordpage | en_HK |
dc.identifier.volume | 150 | en_HK |
dc.identifier.issue | 1 | en_HK |
dc.identifier.spage | 28 | en_HK |
dc.identifier.epage | 33 | en_HK |
dc.identifier.isi | WOS:000277873200006 | - |
dc.publisher.place | Ireland | en_HK |
dc.identifier.scopusauthorid | Chan, K=7406032228 | en_HK |
dc.identifier.scopusauthorid | Yam, I=6603358817 | en_HK |
dc.identifier.scopusauthorid | Leung, KY=8247106900 | en_HK |
dc.identifier.scopusauthorid | Tang, M=8943401300 | en_HK |
dc.identifier.scopusauthorid | Chan, TK=7402687762 | en_HK |
dc.identifier.scopusauthorid | Chan, V=7202654865 | en_HK |
dc.identifier.citeulike | 6833656 | - |
dc.identifier.issnl | 0301-2115 | - |