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Article: MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis
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TitleMS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis
 
AuthorsDing, C10
Chiu, RWK11
Lau, TK11
Leung, TN11
Chan, LC5
Chan, AYY5
Charoenkwan, P7
Ng, ISL2
Law, HY2
Ma, ESK5
Xu, X1
Wanapirak, C7
Sanguansermsri, T7
Liao, C4
Tan Jin Ai, MA8
Chui, DHK9
Cantor, CR10 3
Lo, YMD11 6
 
Issue Date2004
 
PublisherNational Academy of Sciences. The Journal's web site is located at http://www.pnas.org
 
CitationProceedings Of The National Academy Of Sciences Of The United States Of America, 2004, v. 101 n. 29, p. 10762-10767 [How to Cite?]
DOI: http://dx.doi.org/10.1073/pnas.0403962101
 
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.
 
ISSN0027-8424
2012 Impact Factor: 9.737
2012 SCImago Journal Rankings: 5.473
 
DOIhttp://dx.doi.org/10.1073/pnas.0403962101
 
PubMed Central IDPMC490008
 
ISI Accession Number IDWOS:000222842700050
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorDing, C
 
dc.contributor.authorChiu, RWK
 
dc.contributor.authorLau, TK
 
dc.contributor.authorLeung, TN
 
dc.contributor.authorChan, LC
 
dc.contributor.authorChan, AYY
 
dc.contributor.authorCharoenkwan, P
 
dc.contributor.authorNg, ISL
 
dc.contributor.authorLaw, HY
 
dc.contributor.authorMa, ESK
 
dc.contributor.authorXu, X
 
dc.contributor.authorWanapirak, C
 
dc.contributor.authorSanguansermsri, T
 
dc.contributor.authorLiao, C
 
dc.contributor.authorTan Jin Ai, MA
 
dc.contributor.authorChui, DHK
 
dc.contributor.authorCantor, CR
 
dc.contributor.authorLo, YMD
 
dc.date.accessioned2008-06-12T06:42:12Z
 
dc.date.available2008-06-12T06:42:12Z
 
dc.date.issued2004
 
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.
 
dc.description.naturepublished_or_final_version
 
dc.format.extent386 bytes
 
dc.format.mimetypetext/html
 
dc.identifier.citationProceedings Of The National Academy Of Sciences Of The United States Of America, 2004, v. 101 n. 29, p. 10762-10767 [How to Cite?]
DOI: http://dx.doi.org/10.1073/pnas.0403962101
 
dc.identifier.citeulike11237907
 
dc.identifier.doihttp://dx.doi.org/10.1073/pnas.0403962101
 
dc.identifier.epage10767
 
dc.identifier.hkuros94892
 
dc.identifier.isiWOS:000222842700050
 
dc.identifier.issn0027-8424
2012 Impact Factor: 9.737
2012 SCImago Journal Rankings: 5.473
 
dc.identifier.issue29
 
dc.identifier.openurl
 
dc.identifier.pmcidPMC490008
 
dc.identifier.pmid15247415
 
dc.identifier.scopuseid_2-s2.0-3242703837
 
dc.identifier.spage10762
 
dc.identifier.urihttp://hdl.handle.net/10722/49424
 
dc.identifier.volume101
 
dc.languageeng
 
dc.publisherNational Academy of Sciences. The Journal's web site is located at http://www.pnas.org
 
dc.publisher.placeUnited States
 
dc.relation.ispartofProceedings of the National Academy of Sciences of the United States of America
 
dc.relation.referencesReferences in Scopus
 
dc.rightsNational Academy of Sciences Proceedings. Copyright © National Academy of Sciences.
 
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License
 
dc.subject.meshDNA Mutational Analysis
 
dc.subject.meshPrenatal Diagnosis - methods
 
dc.subject.meshFetus - physiology
 
dc.subject.meshGenetic Screening
 
dc.subject.meshHaplotypes
 
dc.titleMS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis
 
dc.typeArticle
 
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Author Affiliations
  1. Southern Medical University
  2. KK Women's And Children's Hospital
  3. Sequenom Inc.
  4. Division of Medical Genetics
  5. The University of Hong Kong
  6. Prince of Wales Hospital Hong Kong
  7. Chiang Mai University
  8. University of Malaya
  9. Boston University School of Medicine
  10. Boston University
  11. Chinese University of Hong Kong