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Article: MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis

TitleMS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis
Authors
Issue Date2004
PublisherNational Academy of Sciences. The Journal's web site is located at http://www.pnas.org
Citation
Proceedings Of The National Academy Of Sciences Of The United States Of America, 2004, v. 101 n. 29, p. 10762-10767 How to Cite?
AbstractThe analysis of circulating nucleic acids has revealed applications in the noninvasive diagnosis, monitoring, and prognostication of many clinical conditions. Circulating fetal-specific sequences have been detected and constitute a fraction of the total DNA in maternal plasma. The diagnostic reliability of circulating DNA analysis depends on the fractional concentration of the targeted sequence, the analytical sensitivity, and the specificity. The robust discrimination of single-nucleotide differences between circulating DNA species is technically challenging and demands the adoption of highly sensitive and specific analytical systems. We have developed a method based on single-allele base extension reaction and MS, which allows for the reliable detection of fetal-specific alleles, including point mutations and single-nucleotide polymorphisms, in maternal plasma. The approach was applied to exclude the fetal inheritance of the four most common Southeast Asian β-thalassemia mutations in at-risk pregnancies between weeks 7 and 21 of gestation. Fetal genotypes were correctly predicted in all cases studied. Fetal haplotype analysis based on a single-nucleotide polymorphism linked to the β-globin locus, HBB, in maternal plasma also was achieved. Consequently, noninvasive prenatal diagnosis in a mother and father carrying identical β-thalassemia mutations was accomplished. These advances will help in catalyzing the clinical applications of fetal nucleic acids in maternal plasma. This analytical approach also will have implications for many other applications of circulating nucleic acids in areas such as oncology and transplantation.
Persistent Identifierhttp://hdl.handle.net/10722/49424
ISSN
2015 Impact Factor: 9.423
2015 SCImago Journal Rankings: 6.883
PubMed Central ID
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorDing, Cen_HK
dc.contributor.authorChiu, RWKen_HK
dc.contributor.authorLau, TKen_HK
dc.contributor.authorLeung, TNen_HK
dc.contributor.authorChan, LCen_HK
dc.contributor.authorChan, AYYen_HK
dc.contributor.authorCharoenkwan, Pen_HK
dc.contributor.authorNg, ISLen_HK
dc.contributor.authorLaw, HYen_HK
dc.contributor.authorMa, ESKen_HK
dc.contributor.authorXu, Xen_HK
dc.contributor.authorWanapirak, Cen_HK
dc.contributor.authorSanguansermsri, Ten_HK
dc.contributor.authorLiao, Cen_HK
dc.contributor.authorTan Jin Ai, MAen_HK
dc.contributor.authorChui, DHKen_HK
dc.contributor.authorCantor, CRen_HK
dc.contributor.authorLo, YMDen_HK
dc.date.accessioned2008-06-12T06:42:12Z-
dc.date.available2008-06-12T06:42:12Z-
dc.date.issued2004en_HK
dc.identifier.citationProceedings Of The National Academy Of Sciences Of The United States Of America, 2004, v. 101 n. 29, p. 10762-10767en_HK
dc.identifier.issn0027-8424en_HK
dc.identifier.urihttp://hdl.handle.net/10722/49424-
dc.description.abstractThe analysis of circulating nucleic acids has revealed applications in the noninvasive diagnosis, monitoring, and prognostication of many clinical conditions. Circulating fetal-specific sequences have been detected and constitute a fraction of the total DNA in maternal plasma. The diagnostic reliability of circulating DNA analysis depends on the fractional concentration of the targeted sequence, the analytical sensitivity, and the specificity. The robust discrimination of single-nucleotide differences between circulating DNA species is technically challenging and demands the adoption of highly sensitive and specific analytical systems. We have developed a method based on single-allele base extension reaction and MS, which allows for the reliable detection of fetal-specific alleles, including point mutations and single-nucleotide polymorphisms, in maternal plasma. The approach was applied to exclude the fetal inheritance of the four most common Southeast Asian β-thalassemia mutations in at-risk pregnancies between weeks 7 and 21 of gestation. Fetal genotypes were correctly predicted in all cases studied. Fetal haplotype analysis based on a single-nucleotide polymorphism linked to the β-globin locus, HBB, in maternal plasma also was achieved. Consequently, noninvasive prenatal diagnosis in a mother and father carrying identical β-thalassemia mutations was accomplished. These advances will help in catalyzing the clinical applications of fetal nucleic acids in maternal plasma. This analytical approach also will have implications for many other applications of circulating nucleic acids in areas such as oncology and transplantation.en_HK
dc.format.extent386 bytes-
dc.format.mimetypetext/html-
dc.languageengen_HK
dc.publisherNational Academy of Sciences. The Journal's web site is located at http://www.pnas.orgen_HK
dc.relation.ispartofProceedings of the National Academy of Sciences of the United States of Americaen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.rightsNational Academy of Sciences Proceedings. Copyright © National Academy of Sciences.en_HK
dc.subject.meshDNA Mutational Analysisen_HK
dc.subject.meshPrenatal Diagnosis - methodsen_HK
dc.subject.meshFetus - physiologyen_HK
dc.subject.meshGenetic Screeningen_HK
dc.subject.meshHaplotypesen_HK
dc.titleMS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosisen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0027-8424&volume=101&issue=29&spage=10762&epage=10767&date=2004&atitle=MS+analysis+of+single-nucleotide+differences+in+circulating+nucleic+acids:+application+to+noninvasive+prenatal+diagnosisen_HK
dc.identifier.emailChan, LC:chanlc@hkucc.hku.hken_HK
dc.identifier.authorityChan, LC=rp00373en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.doi10.1073/pnas.0403962101en_HK
dc.identifier.pmid15247415en_HK
dc.identifier.pmcidPMC490008en_HK
dc.identifier.scopuseid_2-s2.0-3242703837en_HK
dc.identifier.hkuros94892-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-3242703837&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume101en_HK
dc.identifier.issue29en_HK
dc.identifier.spage10762en_HK
dc.identifier.epage10767en_HK
dc.identifier.isiWOS:000222842700050-
dc.publisher.placeUnited Statesen_HK
dc.identifier.citeulike11237907-

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