Single-cell chromosomal imbalances detection by array CGH
Identifieur interne : 001614 ( Main/Exploration ); précédent : 001613; suivant : 001615Single-cell chromosomal imbalances detection by array CGH
Auteurs : Cedric Le Caignec [Belgique] ; Claudia Spits [Belgique] ; Karen Sermon [Belgique] ; Martine De Rycke [Belgique] ; Bernard Thienpont [Belgique] ; Sophie Debrock [Belgique] ; Catherine Staessen [Belgique] ; Yves Moreau [Belgique] ; Jean-Pierre Fryns [Belgique] ; Andre Van Steirteghem [Belgique] ; Inge Liebaers [Belgique] ; Joris R. Vermeesch [Belgique]Source :
- Nucleic Acids Research [ 0305-1048 ] ; 2006.
Abstract
Genomic imbalances are a major cause of constitutional and acquired disorders. Therefore, aneuploidy screening has become the cornerstone of preimplantation, prenatal and postnatal genetic diagnosis, as well as a routine aspect of the diagnostic workup of many acquired disorders. Recently, array comparative genomic hybridization (array CGH) has been introduced as a rapid and high-resolution method for the detection of both benign and disease-causing genomic copy-number variations. Until now, array CGH has been performed using a significant quantity of DNA derived from a pool of cells. Here, we present an array CGH method that accurately detects chromosomal imbalances from a single lymphoblast, fibroblast and blastomere within a single day. Trisomy 13, 18, 21 and monosomy X, as well as normal ploidy levels of all other chromosomes, were accurately determined from single fibroblasts. Moreover, we showed that a segmental deletion as small as 34 Mb could be detected. Finally, we demonstrated the possibility to detect aneuploidies in single blastomeres derived from preimplantation embryos. This technique offers new possibilities for genetic analysis of single cells in general and opens the route towards aneuploidy screening and detection of unbalanced translocations in preimplantation embryos in particular.
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DOI: 10.1093/nar/gkl336
Affiliations:
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Vermeesch</name><affiliation wicri:level="1"><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, University Hospital Gasthuisberg Leuven</wicri:regionArea><wicri:noRegion>University Hospital Gasthuisberg Leuven</wicri:noRegion></affiliation><affiliation wicri:level="1"><country wicri:rule="url">Belgique</country></affiliation></author></analytic><monogr></monogr><series><title level="j">Nucleic Acids Research</title><title level="j" type="abbrev">Nucl. Acids Res.</title><idno type="ISSN">0305-1048</idno><idno type="eISSN">1362-4962</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="2006">2006</date><biblScope unit="volume">34</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="68">e68</biblScope><biblScope unit="page" to="68">e68</biblScope></imprint><idno type="ISSN">0305-1048</idno></series><idno type="istex">6D82C890A5F2197224DDCF38E4F514280893E6A2</idno><idno type="DOI">10.1093/nar/gkl336</idno><idno type="local">gkl336</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0305-1048</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Genomic imbalances are a major cause of constitutional and acquired disorders. Therefore, aneuploidy screening has become the cornerstone of preimplantation, prenatal and postnatal genetic diagnosis, as well as a routine aspect of the diagnostic workup of many acquired disorders. Recently, array comparative genomic hybridization (array CGH) has been introduced as a rapid and high-resolution method for the detection of both benign and disease-causing genomic copy-number variations. Until now, array CGH has been performed using a significant quantity of DNA derived from a pool of cells. Here, we present an array CGH method that accurately detects chromosomal imbalances from a single lymphoblast, fibroblast and blastomere within a single day. Trisomy 13, 18, 21 and monosomy X, as well as normal ploidy levels of all other chromosomes, were accurately determined from single fibroblasts. Moreover, we showed that a segmental deletion as small as 34 Mb could be detected. Finally, we demonstrated the possibility to detect aneuploidies in single blastomeres derived from preimplantation embryos. This technique offers new possibilities for genetic analysis of single cells in general and opens the route towards aneuploidy screening and detection of unbalanced translocations in preimplantation embryos in particular.</div></front></TEI><affiliations><list><country><li>Belgique</li></country></list><tree><country name="Belgique"><noRegion><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cedric" last="Le Caignec">Cedric Le Caignec</name></noRegion><name sortKey="De Rycke, Martine" sort="De Rycke, Martine" uniqKey="De Rycke M" first="Martine" last="De Rycke">Martine De Rycke</name><name sortKey="Debrock, Sophie" sort="Debrock, Sophie" uniqKey="Debrock S" first="Sophie" last="Debrock">Sophie Debrock</name><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cedric" last="Le Caignec">Cedric Le Caignec</name><name sortKey="Liebaers, Inge" sort="Liebaers, Inge" uniqKey="Liebaers I" first="Inge" last="Liebaers">Inge Liebaers</name><name sortKey="Moreau, Yves" sort="Moreau, Yves" uniqKey="Moreau Y" first="Yves" last="Moreau">Yves Moreau</name><name sortKey="Sermon, Karen" sort="Sermon, Karen" uniqKey="Sermon K" first="Karen" last="Sermon">Karen Sermon</name><name sortKey="Spits, Claudia" sort="Spits, Claudia" uniqKey="Spits C" first="Claudia" last="Spits">Claudia Spits</name><name sortKey="Staessen, Catherine" sort="Staessen, Catherine" uniqKey="Staessen C" first="Catherine" last="Staessen">Catherine Staessen</name><name sortKey="Thienpont, Bernard" sort="Thienpont, Bernard" uniqKey="Thienpont B" first="Bernard" last="Thienpont">Bernard Thienpont</name><name sortKey="Van Steirteghem, Andre" sort="Van Steirteghem, Andre" uniqKey="Van Steirteghem A" first="Andre" last="Van Steirteghem">Andre Van Steirteghem</name><name sortKey="Vermeesch, Joris R" sort="Vermeesch, Joris R" uniqKey="Vermeesch J" first="Joris R." last="Vermeesch">Joris R. Vermeesch</name><name sortKey="Vermeesch, Joris R" sort="Vermeesch, Joris R" uniqKey="Vermeesch J" first="Joris R." last="Vermeesch">Joris R. Vermeesch</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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