METHOD OF DETECTING CYSTIC FIBROSIS ASSOCIATED MUTATIONS

The present invention describes a method for the simultaneous identification of two or more single base changes, insertions, deletions or translocations in a plurality of target nucleotide sequences that are markers associated with cystic fibrosis. Multiplex detection is accomplished using multiplex...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: GALVAN, BARBARA, LISLE, CONNIE
Format: Patent
Sprache:eng ; fre
Schlagworte:
Online-Zugang:Volltext bestellen
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
container_end_page
container_issue
container_start_page
container_title
container_volume
creator GALVAN, BARBARA
LISLE, CONNIE
description The present invention describes a method for the simultaneous identification of two or more single base changes, insertions, deletions or translocations in a plurality of target nucleotide sequences that are markers associated with cystic fibrosis. Multiplex detection is accomplished using multiplexed tagged allele specific primer extension (ASPE) and hybridization of such extended primers to a probe, preferably an addressable anti-tagged support. La présente invention décrit un procédé d'identification simultanée de deux modifications, insertions, suppressions ou translocations, ou plus, de bases simples dans une pluralité de séquences nucléotidiques cibles qui sont des marqueurs associés à la fibrose cystique. La détection multiplex est effectuée en utilisant une extension d'amorces allèle-spécifiques (ASPE) marquée multiplexée et l'hybridation de ces amorces allongées en une sonde, de préférence un support anti-marqué adressable.
format Patent
fullrecord <record><control><sourceid>epo_EVB</sourceid><recordid>TN_cdi_epo_espacenet_WO2005117514A3</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>WO2005117514A3</sourcerecordid><originalsourceid>FETCH-epo_espacenet_WO2005117514A33</originalsourceid><addsrcrecordid>eNrjZLDwdQ3x8HdR8HdTcHENcXUO8fRzV3CODA7xdFZw83QK8g_2DFZwDA72d_Z0DHF1UfANDXEM8fT3C-ZhYE1LzClO5YXS3AzKbq4hzh66qQX58anFBYnJqXmpJfHh_kYGBqaGhuamhiaOxsbEqQIAEqApiA</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>patent</recordtype></control><display><type>patent</type><title>METHOD OF DETECTING CYSTIC FIBROSIS ASSOCIATED MUTATIONS</title><source>esp@cenet</source><creator>GALVAN, BARBARA ; LISLE, CONNIE</creator><creatorcontrib>GALVAN, BARBARA ; LISLE, CONNIE</creatorcontrib><description>The present invention describes a method for the simultaneous identification of two or more single base changes, insertions, deletions or translocations in a plurality of target nucleotide sequences that are markers associated with cystic fibrosis. Multiplex detection is accomplished using multiplexed tagged allele specific primer extension (ASPE) and hybridization of such extended primers to a probe, preferably an addressable anti-tagged support. La présente invention décrit un procédé d'identification simultanée de deux modifications, insertions, suppressions ou translocations, ou plus, de bases simples dans une pluralité de séquences nucléotidiques cibles qui sont des marqueurs associés à la fibrose cystique. La détection multiplex est effectuée en utilisant une extension d'amorces allèle-spécifiques (ASPE) marquée multiplexée et l'hybridation de ces amorces allongées en une sonde, de préférence un support anti-marqué adressable.</description><language>eng ; fre</language><subject>BEER ; BIOCHEMISTRY ; CHEMISTRY ; COMPOSITIONS OR TEST PAPERS THEREFOR ; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES ; ENZYMOLOGY ; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS ; METALLURGY ; MICROBIOLOGY ; MUTATION OR GENETIC ENGINEERING ; PROCESSES OF PREPARING SUCH COMPOSITIONS ; SPIRITS ; VINEGAR ; WINE</subject><creationdate>2007</creationdate><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://worldwide.espacenet.com/publicationDetails/biblio?FT=D&amp;date=20070518&amp;DB=EPODOC&amp;CC=WO&amp;NR=2005117514A3$$EHTML$$P50$$Gepo$$Hfree_for_read</linktohtml><link.rule.ids>230,308,780,885,25564,76547</link.rule.ids><linktorsrc>$$Uhttps://worldwide.espacenet.com/publicationDetails/biblio?FT=D&amp;date=20070518&amp;DB=EPODOC&amp;CC=WO&amp;NR=2005117514A3$$EView_record_in_European_Patent_Office$$FView_record_in_$$GEuropean_Patent_Office$$Hfree_for_read</linktorsrc></links><search><creatorcontrib>GALVAN, BARBARA</creatorcontrib><creatorcontrib>LISLE, CONNIE</creatorcontrib><title>METHOD OF DETECTING CYSTIC FIBROSIS ASSOCIATED MUTATIONS</title><description>The present invention describes a method for the simultaneous identification of two or more single base changes, insertions, deletions or translocations in a plurality of target nucleotide sequences that are markers associated with cystic fibrosis. Multiplex detection is accomplished using multiplexed tagged allele specific primer extension (ASPE) and hybridization of such extended primers to a probe, preferably an addressable anti-tagged support. La présente invention décrit un procédé d'identification simultanée de deux modifications, insertions, suppressions ou translocations, ou plus, de bases simples dans une pluralité de séquences nucléotidiques cibles qui sont des marqueurs associés à la fibrose cystique. La détection multiplex est effectuée en utilisant une extension d'amorces allèle-spécifiques (ASPE) marquée multiplexée et l'hybridation de ces amorces allongées en une sonde, de préférence un support anti-marqué adressable.</description><subject>BEER</subject><subject>BIOCHEMISTRY</subject><subject>CHEMISTRY</subject><subject>COMPOSITIONS OR TEST PAPERS THEREFOR</subject><subject>CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES</subject><subject>ENZYMOLOGY</subject><subject>MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS</subject><subject>METALLURGY</subject><subject>MICROBIOLOGY</subject><subject>MUTATION OR GENETIC ENGINEERING</subject><subject>PROCESSES OF PREPARING SUCH COMPOSITIONS</subject><subject>SPIRITS</subject><subject>VINEGAR</subject><subject>WINE</subject><fulltext>true</fulltext><rsrctype>patent</rsrctype><creationdate>2007</creationdate><recordtype>patent</recordtype><sourceid>EVB</sourceid><recordid>eNrjZLDwdQ3x8HdR8HdTcHENcXUO8fRzV3CODA7xdFZw83QK8g_2DFZwDA72d_Z0DHF1UfANDXEM8fT3C-ZhYE1LzClO5YXS3AzKbq4hzh66qQX58anFBYnJqXmpJfHh_kYGBqaGhuamhiaOxsbEqQIAEqApiA</recordid><startdate>20070518</startdate><enddate>20070518</enddate><creator>GALVAN, BARBARA</creator><creator>LISLE, CONNIE</creator><scope>EVB</scope></search><sort><creationdate>20070518</creationdate><title>METHOD OF DETECTING CYSTIC FIBROSIS ASSOCIATED MUTATIONS</title><author>GALVAN, BARBARA ; LISLE, CONNIE</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-epo_espacenet_WO2005117514A33</frbrgroupid><rsrctype>patents</rsrctype><prefilter>patents</prefilter><language>eng ; fre</language><creationdate>2007</creationdate><topic>BEER</topic><topic>BIOCHEMISTRY</topic><topic>CHEMISTRY</topic><topic>COMPOSITIONS OR TEST PAPERS THEREFOR</topic><topic>CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES</topic><topic>ENZYMOLOGY</topic><topic>MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS</topic><topic>METALLURGY</topic><topic>MICROBIOLOGY</topic><topic>MUTATION OR GENETIC ENGINEERING</topic><topic>PROCESSES OF PREPARING SUCH COMPOSITIONS</topic><topic>SPIRITS</topic><topic>VINEGAR</topic><topic>WINE</topic><toplevel>online_resources</toplevel><creatorcontrib>GALVAN, BARBARA</creatorcontrib><creatorcontrib>LISLE, CONNIE</creatorcontrib><collection>esp@cenet</collection></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext_linktorsrc</fulltext></delivery><addata><au>GALVAN, BARBARA</au><au>LISLE, CONNIE</au><format>patent</format><genre>patent</genre><ristype>GEN</ristype><title>METHOD OF DETECTING CYSTIC FIBROSIS ASSOCIATED MUTATIONS</title><date>2007-05-18</date><risdate>2007</risdate><abstract>The present invention describes a method for the simultaneous identification of two or more single base changes, insertions, deletions or translocations in a plurality of target nucleotide sequences that are markers associated with cystic fibrosis. Multiplex detection is accomplished using multiplexed tagged allele specific primer extension (ASPE) and hybridization of such extended primers to a probe, preferably an addressable anti-tagged support. La présente invention décrit un procédé d'identification simultanée de deux modifications, insertions, suppressions ou translocations, ou plus, de bases simples dans une pluralité de séquences nucléotidiques cibles qui sont des marqueurs associés à la fibrose cystique. La détection multiplex est effectuée en utilisant une extension d'amorces allèle-spécifiques (ASPE) marquée multiplexée et l'hybridation de ces amorces allongées en une sonde, de préférence un support anti-marqué adressable.</abstract><oa>free_for_read</oa></addata></record>
fulltext fulltext_linktorsrc
identifier
ispartof
issn
language eng ; fre
recordid cdi_epo_espacenet_WO2005117514A3
source esp@cenet
subjects BEER
BIOCHEMISTRY
CHEMISTRY
COMPOSITIONS OR TEST PAPERS THEREFOR
CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES
ENZYMOLOGY
MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS
METALLURGY
MICROBIOLOGY
MUTATION OR GENETIC ENGINEERING
PROCESSES OF PREPARING SUCH COMPOSITIONS
SPIRITS
VINEGAR
WINE
title METHOD OF DETECTING CYSTIC FIBROSIS ASSOCIATED MUTATIONS
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-01T04%3A40%3A42IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-epo_EVB&rft_val_fmt=info:ofi/fmt:kev:mtx:patent&rft.genre=patent&rft.au=GALVAN,%20BARBARA&rft.date=2007-05-18&rft_id=info:doi/&rft_dat=%3Cepo_EVB%3EWO2005117514A3%3C/epo_EVB%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_id=info:pmid/&rfr_iscdi=true