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, CR3 10
Lo, YMD6 11
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
2011 Impact Factor: 9.681
2011 SCImago Journal Rankings: 1.754
DOIhttp://dx.doi.org/10.1073/pnas.0403962101
ISI Accession Number IDWOS:000222842700050
PubMed Central IDPMC490008
ReferencesReferences in Scopus
DC Field
Value
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
2011 Impact Factor: 9.681
2011 SCImago Journal Rankings: 1.754
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
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