Sequence analysis by hybridization with oligonucleotide microchip: identification of beta-thalassemia mutations.
Identifieur interne : 002A70 ( Ncbi/Merge ); précédent : 002A69; suivant : 002A71Sequence analysis by hybridization with oligonucleotide microchip: identification of beta-thalassemia mutations.
Auteurs : A. Drobyshev [Russie] ; N. Mologina ; V. Shik ; D. Pobedimskaya ; G. Yershov ; A. MirzabekovSource :
- Gene [ 0378-1119 ] ; 1997.
Descripteurs français
- KwdFr :
- MESH :
- diagnostic : bêta-Thalassémie.
- génétique : bêta-Thalassémie.
- ADN, ARN, Analyse de séquence d'ADN, Données de séquences moléculaires, Humains, Hybridation d'acides nucléiques, Mutation, Oligonucléotides, Sondes d'ARN, Séquence nucléotidique.
English descriptors
- KwdEn :
- MESH :
- chemical : DNA, Oligonucleotides, RNA, RNA Probes.
- diagnosis : beta-Thalassemia.
- genetics : beta-Thalassemia.
- Base Sequence, Humans, Molecular Sequence Data, Mutation, Nucleic Acid Hybridization, Sequence Analysis, DNA.
Abstract
Diagnostics for genetic diseases were run and sequence analysis of DNA was carried out by hybridization of RNA transcripts with oligonucleotide array microchips. Polyacrylamide gel pads (100 x 100 x 20 microm) were fixed on a glass slide of the microchip and contained allele-specific immobilized oligonucleotides (10-mers). The RNA transcripts of PCR-amplified genomic DNA were fluorescently labeled by enzymatic or chemical methods and hybridized with the microchips. The simultaneous measurement in real time of the hybridization and melting on the entire oligonucleotide array was carried out with a fluorescence microscope equipped with CCD camera. The monitoring of the hybridization specificity for duplexes with different stabilities and AT content was enhanced by its measurement at optimal, discrimination temperatures on melting curves. Microchip diagnostics were optimized by choosing the proper allele-specific oligonucleotides from among the set of overlapping oligomers. The accuracy of mutation detection can be increased by simultaneous hybridization of the microchip with two differently labeled samples and by parallel monitoring their hybridization with a multi-wavelength fluorescence microscope. The efficiency and reliability of the sequence analysis were demonstrated with diagnostics for beta-thalassemia mutations.
DOI: 10.1016/s0378-1119(96)00775-5
PubMed: 9099858
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Shik</name></author><author><name sortKey="Pobedimskaya, D" sort="Pobedimskaya, D" uniqKey="Pobedimskaya D" first="D" last="Pobedimskaya">D. Pobedimskaya</name></author><author><name sortKey="Yershov, G" sort="Yershov, G" uniqKey="Yershov G" first="G" last="Yershov">G. Yershov</name></author><author><name sortKey="Mirzabekov, A" sort="Mirzabekov, A" uniqKey="Mirzabekov A" first="A" last="Mirzabekov">A. 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Drobyshev</name><affiliation wicri:level="3"><nlm:affiliation>Joint Human Genome Program: Engelhardt Institute of Molecular Biology, Moscow, Russia.</nlm:affiliation><country xml:lang="fr">Russie</country><wicri:regionArea>Joint Human Genome Program: Engelhardt Institute of Molecular Biology, Moscow</wicri:regionArea><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></affiliation></author><author><name sortKey="Mologina, N" sort="Mologina, N" uniqKey="Mologina N" first="N" last="Mologina">N. Mologina</name></author><author><name sortKey="Shik, V" sort="Shik, V" uniqKey="Shik V" first="V" last="Shik">V. Shik</name></author><author><name sortKey="Pobedimskaya, D" sort="Pobedimskaya, D" uniqKey="Pobedimskaya D" first="D" last="Pobedimskaya">D. Pobedimskaya</name></author><author><name sortKey="Yershov, G" sort="Yershov, G" uniqKey="Yershov G" first="G" last="Yershov">G. Yershov</name></author><author><name sortKey="Mirzabekov, A" sort="Mirzabekov, A" uniqKey="Mirzabekov A" first="A" last="Mirzabekov">A. Mirzabekov</name></author></analytic><series><title level="j">Gene</title><idno type="ISSN">0378-1119</idno><imprint><date when="1997" type="published">1997</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Base Sequence</term><term>DNA</term><term>Humans</term><term>Molecular Sequence Data</term><term>Mutation</term><term>Nucleic Acid Hybridization</term><term>Oligonucleotides</term><term>RNA</term><term>RNA Probes</term><term>Sequence Analysis, DNA</term><term>beta-Thalassemia (diagnosis)</term><term>beta-Thalassemia (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>ADN</term><term>ARN</term><term>Analyse de séquence d'ADN</term><term>Données de séquences moléculaires</term><term>Humains</term><term>Hybridation d'acides nucléiques</term><term>Mutation</term><term>Oligonucléotides</term><term>Sondes d'ARN</term><term>Séquence nucléotidique</term><term>bêta-Thalassémie (diagnostic)</term><term>bêta-Thalassémie (génétique)</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>DNA</term><term>Oligonucleotides</term><term>RNA</term><term>RNA Probes</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>beta-Thalassemia</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>bêta-Thalassémie</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>beta-Thalassemia</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>bêta-Thalassémie</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Base Sequence</term><term>Humans</term><term>Molecular Sequence Data</term><term>Mutation</term><term>Nucleic Acid Hybridization</term><term>Sequence Analysis, DNA</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>ADN</term><term>ARN</term><term>Analyse de séquence d'ADN</term><term>Données de séquences moléculaires</term><term>Humains</term><term>Hybridation d'acides nucléiques</term><term>Mutation</term><term>Oligonucléotides</term><term>Sondes d'ARN</term><term>Séquence nucléotidique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Diagnostics for genetic diseases were run and sequence analysis of DNA was carried out by hybridization of RNA transcripts with oligonucleotide array microchips. Polyacrylamide gel pads (100 x 100 x 20 microm) were fixed on a glass slide of the microchip and contained allele-specific immobilized oligonucleotides (10-mers). The RNA transcripts of PCR-amplified genomic DNA were fluorescently labeled by enzymatic or chemical methods and hybridized with the microchips. The simultaneous measurement in real time of the hybridization and melting on the entire oligonucleotide array was carried out with a fluorescence microscope equipped with CCD camera. The monitoring of the hybridization specificity for duplexes with different stabilities and AT content was enhanced by its measurement at optimal, discrimination temperatures on melting curves. Microchip diagnostics were optimized by choosing the proper allele-specific oligonucleotides from among the set of overlapping oligomers. The accuracy of mutation detection can be increased by simultaneous hybridization of the microchip with two differently labeled samples and by parallel monitoring their hybridization with a multi-wavelength fluorescence microscope. The efficiency and reliability of the sequence analysis were demonstrated with diagnostics for beta-thalassemia mutations.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">9099858</PMID><DateCompleted><Year>1997</Year><Month>05</Month><Day>19</Day></DateCompleted><DateRevised><Year>2019</Year><Month>07</Month><Day>07</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0378-1119</ISSN><JournalIssue CitedMedium="Print"><Volume>188</Volume><Issue>1</Issue><PubDate><Year>1997</Year><Month>Mar</Month><Day>25</Day></PubDate></JournalIssue><Title>Gene</Title><ISOAbbreviation>Gene</ISOAbbreviation></Journal><ArticleTitle>Sequence analysis by hybridization with oligonucleotide microchip: identification of beta-thalassemia mutations.</ArticleTitle><Pagination><MedlinePgn>45-52</MedlinePgn></Pagination><Abstract><AbstractText>Diagnostics for genetic diseases were run and sequence analysis of DNA was carried out by hybridization of RNA transcripts with oligonucleotide array microchips. Polyacrylamide gel pads (100 x 100 x 20 microm) were fixed on a glass slide of the microchip and contained allele-specific immobilized oligonucleotides (10-mers). The RNA transcripts of PCR-amplified genomic DNA were fluorescently labeled by enzymatic or chemical methods and hybridized with the microchips. The simultaneous measurement in real time of the hybridization and melting on the entire oligonucleotide array was carried out with a fluorescence microscope equipped with CCD camera. The monitoring of the hybridization specificity for duplexes with different stabilities and AT content was enhanced by its measurement at optimal, discrimination temperatures on melting curves. Microchip diagnostics were optimized by choosing the proper allele-specific oligonucleotides from among the set of overlapping oligomers. The accuracy of mutation detection can be increased by simultaneous hybridization of the microchip with two differently labeled samples and by parallel monitoring their hybridization with a multi-wavelength fluorescence microscope. The efficiency and reliability of the sequence analysis were demonstrated with diagnostics for beta-thalassemia mutations.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Drobyshev</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Joint Human Genome Program: Engelhardt Institute of Molecular Biology, Moscow, Russia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mologina</LastName><ForeName>N</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Shik</LastName><ForeName>V</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Pobedimskaya</LastName><ForeName>D</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Yershov</LastName><ForeName>G</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Mirzabekov</LastName><ForeName>A</ForeName><Initials>A</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D013486">Research Support, U.S. Gov't, Non-P.H.S.</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>Netherlands</Country><MedlineTA>Gene</MedlineTA><NlmUniqueID>7706761</NlmUniqueID><ISSNLinking>0378-1119</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009841">Oligonucleotides</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D015347">RNA Probes</NameOfSubstance></Chemical><Chemical><RegistryNumber>63231-63-0</RegistryNumber><NameOfSubstance UI="D012313">RNA</NameOfSubstance></Chemical><Chemical><RegistryNumber>9007-49-2</RegistryNumber><NameOfSubstance UI="D004247">DNA</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D001483" MajorTopicYN="N">Base Sequence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004247" MajorTopicYN="N">DNA</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008969" MajorTopicYN="N">Molecular Sequence Data</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009693" MajorTopicYN="N">Nucleic Acid Hybridization</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009841" MajorTopicYN="N">Oligonucleotides</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012313" MajorTopicYN="N">RNA</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015347" MajorTopicYN="N">RNA Probes</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017422" MajorTopicYN="Y">Sequence Analysis, DNA</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017086" MajorTopicYN="N">beta-Thalassemia</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1997</Year><Month>3</Month><Day>25</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1997</Year><Month>3</Month><Day>25</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1997</Year><Month>3</Month><Day>25</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">9099858</ArticleId><ArticleId IdType="pii">S0378111996007755</ArticleId><ArticleId IdType="doi">10.1016/s0378-1119(96)00775-5</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Russie</li></country><region><li>District fédéral central</li></region><settlement><li>Moscou</li></settlement></list><tree><noCountry><name sortKey="Mirzabekov, A" sort="Mirzabekov, A" uniqKey="Mirzabekov A" first="A" last="Mirzabekov">A. Mirzabekov</name><name sortKey="Mologina, N" sort="Mologina, N" uniqKey="Mologina N" first="N" last="Mologina">N. Mologina</name><name sortKey="Pobedimskaya, D" sort="Pobedimskaya, D" uniqKey="Pobedimskaya D" first="D" last="Pobedimskaya">D. Pobedimskaya</name><name sortKey="Shik, V" sort="Shik, V" uniqKey="Shik V" first="V" last="Shik">V. Shik</name><name sortKey="Yershov, G" sort="Yershov, G" uniqKey="Yershov G" first="G" last="Yershov">G. Yershov</name></noCountry><country name="Russie"><region name="District fédéral central"><name sortKey="Drobyshev, A" sort="Drobyshev, A" uniqKey="Drobyshev A" first="A" last="Drobyshev">A. Drobyshev</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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