Microarray design using virtual hybridization to study variations in REP-CMT1A sites

Microarray design using virtual hybridization to study variations in REP-CMT1A sites

Gene PMP22 is duplicated in patients with CMT1A. Duplication is due to an unequal chromatid interchange during meiosis that takes place between two 24 Kb regions named REP-CMT1A proximal and distal sites. Homology is approximately 98%. Within each one of the sites we find zones termed hot spots wher...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Gaceta médica de México 2008-01, Vol.144 (1), p.1-6
Hauptverfasser: Hernández-Zamora, Edgar, Arenas-Sordo, María de la Luz, Maldonado-Rodríguez, Rogelio
Format: Artikel
Sprache:spa
Schlagworte:
Charcot-Marie-Tooth Disease - genetics
Humans
Myelin Proteins - genetics
Oligonucleotide Array Sequence Analysis - methods
Proteins - genetics
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
container_end_page 6
container_issue 1
container_start_page 1
container_title Gaceta médica de México
container_volume 144
creator Hernández-Zamora, Edgar
Arenas-Sordo, María de la Luz
Maldonado-Rodríguez, Rogelio
description Gene PMP22 is duplicated in patients with CMT1A. Duplication is due to an unequal chromatid interchange during meiosis that takes place between two 24 Kb regions named REP-CMT1A proximal and distal sites. Homology is approximately 98%. Within each one of the sites we find zones termed hot spots where a greater number of variants and mutations could give origin to an unequal interchange. The aim of this study was to design a set of probes to create a microarray that could detect the presence of variants and mutation points in distal and proximal REP sites among patients with CMT1A. With reported sequences of distal and proximal REPs, we determined hot spot sites within proximal and distal regions. These sequences were aligned and matched, hence 12 zones were detected. Twenty four probes were designed and analyzed using the Genosensor Probe Designer program. Probes could be synthesized and used in a microarray that is able to find variations and mutation points and facilitates diagnosis of patients with CMT1A.
format Article
fullrecord <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_proquest_miscellaneous_69310199</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>69310199</sourcerecordid><originalsourceid>FETCH-LOGICAL-p139t-83ba915e34fa6415c081b8a94188e7f6d7f315df4dd51ec6e0f6ab8990b907ba3</originalsourceid><addsrcrecordid>eNo1kEtLxDAURrNQnHH0L0hW7gq5pk2T5VDGB8ygSF2XmyYdI32MeQzUX6_ouDrwcfgW54wsGQORcQl8QS5D-GDsrhBMXZAFSAGKFWxJ6p1r_YTe40yNDW4_0hTcuKdH52PCnr7P2jvjvjC6aaRxoiEmM9Mjevc7BepG-rp5yapdDWsaXLThipx32Ad7feKKvN1v6uox2z4_PFXrbXYArmImuUYFheV5hyKHomUStESVg5S27IQpOw6F6XJjCrCtsKwTqKVSTCtWauQrcvv3e_DTZ7IhNoMLre17HO2UQiMUBwZK_Yg3JzHpwZrm4N2Afm7-O_BvhWVZCw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>69310199</pqid></control><display><type>article</type><title>Microarray design using virtual hybridization to study variations in REP-CMT1A sites</title><source>MEDLINE</source><source>EZB-FREE-00999 freely available EZB journals</source><creator>Hernández-Zamora, Edgar ; Arenas-Sordo, María de la Luz ; Maldonado-Rodríguez, Rogelio</creator><creatorcontrib>Hernández-Zamora, Edgar ; Arenas-Sordo, María de la Luz ; Maldonado-Rodríguez, Rogelio</creatorcontrib><description>Gene PMP22 is duplicated in patients with CMT1A. Duplication is due to an unequal chromatid interchange during meiosis that takes place between two 24 Kb regions named REP-CMT1A proximal and distal sites. Homology is approximately 98%. Within each one of the sites we find zones termed hot spots where a greater number of variants and mutations could give origin to an unequal interchange. The aim of this study was to design a set of probes to create a microarray that could detect the presence of variants and mutation points in distal and proximal REP sites among patients with CMT1A. With reported sequences of distal and proximal REPs, we determined hot spot sites within proximal and distal regions. These sequences were aligned and matched, hence 12 zones were detected. Twenty four probes were designed and analyzed using the Genosensor Probe Designer program. Probes could be synthesized and used in a microarray that is able to find variations and mutation points and facilitates diagnosis of patients with CMT1A.</description><identifier>ISSN: 0016-3813</identifier><identifier>PMID: 18619050</identifier><language>spa</language><publisher>Mexico</publisher><subject>Charcot-Marie-Tooth Disease - genetics ; Humans ; Myelin Proteins - genetics ; Oligonucleotide Array Sequence Analysis - methods ; Proteins - genetics</subject><ispartof>Gaceta médica de México, 2008-01, Vol.144 (1), p.1-6</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18619050$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hernández-Zamora, Edgar</creatorcontrib><creatorcontrib>Arenas-Sordo, María de la Luz</creatorcontrib><creatorcontrib>Maldonado-Rodríguez, Rogelio</creatorcontrib><title>Microarray design using virtual hybridization to study variations in REP-CMT1A sites</title><title>Gaceta médica de México</title><addtitle>Gac Med Mex</addtitle><description>Gene PMP22 is duplicated in patients with CMT1A. Duplication is due to an unequal chromatid interchange during meiosis that takes place between two 24 Kb regions named REP-CMT1A proximal and distal sites. Homology is approximately 98%. Within each one of the sites we find zones termed hot spots where a greater number of variants and mutations could give origin to an unequal interchange. The aim of this study was to design a set of probes to create a microarray that could detect the presence of variants and mutation points in distal and proximal REP sites among patients with CMT1A. With reported sequences of distal and proximal REPs, we determined hot spot sites within proximal and distal regions. These sequences were aligned and matched, hence 12 zones were detected. Twenty four probes were designed and analyzed using the Genosensor Probe Designer program. Probes could be synthesized and used in a microarray that is able to find variations and mutation points and facilitates diagnosis of patients with CMT1A.</description><subject>Charcot-Marie-Tooth Disease - genetics</subject><subject>Humans</subject><subject>Myelin Proteins - genetics</subject><subject>Oligonucleotide Array Sequence Analysis - methods</subject><subject>Proteins - genetics</subject><issn>0016-3813</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1kEtLxDAURrNQnHH0L0hW7gq5pk2T5VDGB8ygSF2XmyYdI32MeQzUX6_ouDrwcfgW54wsGQORcQl8QS5D-GDsrhBMXZAFSAGKFWxJ6p1r_YTe40yNDW4_0hTcuKdH52PCnr7P2jvjvjC6aaRxoiEmM9Mjevc7BepG-rp5yapdDWsaXLThipx32Ad7feKKvN1v6uox2z4_PFXrbXYArmImuUYFheV5hyKHomUStESVg5S27IQpOw6F6XJjCrCtsKwTqKVSTCtWauQrcvv3e_DTZ7IhNoMLre17HO2UQiMUBwZK_Yg3JzHpwZrm4N2Afm7-O_BvhWVZCw</recordid><startdate>200801</startdate><enddate>200801</enddate><creator>Hernández-Zamora, Edgar</creator><creator>Arenas-Sordo, María de la Luz</creator><creator>Maldonado-Rodríguez, Rogelio</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>200801</creationdate><title>Microarray design using virtual hybridization to study variations in REP-CMT1A sites</title><author>Hernández-Zamora, Edgar ; Arenas-Sordo, María de la Luz ; Maldonado-Rodríguez, Rogelio</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p139t-83ba915e34fa6415c081b8a94188e7f6d7f315df4dd51ec6e0f6ab8990b907ba3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>spa</language><creationdate>2008</creationdate><topic>Charcot-Marie-Tooth Disease - genetics</topic><topic>Humans</topic><topic>Myelin Proteins - genetics</topic><topic>Oligonucleotide Array Sequence Analysis - methods</topic><topic>Proteins - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hernández-Zamora, Edgar</creatorcontrib><creatorcontrib>Arenas-Sordo, María de la Luz</creatorcontrib><creatorcontrib>Maldonado-Rodríguez, Rogelio</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Gaceta médica de México</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hernández-Zamora, Edgar</au><au>Arenas-Sordo, María de la Luz</au><au>Maldonado-Rodríguez, Rogelio</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Microarray design using virtual hybridization to study variations in REP-CMT1A sites</atitle><jtitle>Gaceta médica de México</jtitle><addtitle>Gac Med Mex</addtitle><date>2008-01</date><risdate>2008</risdate><volume>144</volume><issue>1</issue><spage>1</spage><epage>6</epage><pages>1-6</pages><issn>0016-3813</issn><abstract>Gene PMP22 is duplicated in patients with CMT1A. Duplication is due to an unequal chromatid interchange during meiosis that takes place between two 24 Kb regions named REP-CMT1A proximal and distal sites. Homology is approximately 98%. Within each one of the sites we find zones termed hot spots where a greater number of variants and mutations could give origin to an unequal interchange. The aim of this study was to design a set of probes to create a microarray that could detect the presence of variants and mutation points in distal and proximal REP sites among patients with CMT1A. With reported sequences of distal and proximal REPs, we determined hot spot sites within proximal and distal regions. These sequences were aligned and matched, hence 12 zones were detected. Twenty four probes were designed and analyzed using the Genosensor Probe Designer program. Probes could be synthesized and used in a microarray that is able to find variations and mutation points and facilitates diagnosis of patients with CMT1A.</abstract><cop>Mexico</cop><pmid>18619050</pmid><tpages>6</tpages></addata></record>
fulltext fulltext
identifier ISSN: 0016-3813
ispartof Gaceta médica de México, 2008-01, Vol.144 (1), p.1-6
issn 0016-3813
language spa
recordid cdi_proquest_miscellaneous_69310199
source MEDLINE; EZB-FREE-00999 freely available EZB journals
subjects Charcot-Marie-Tooth Disease - genetics
Humans
Myelin Proteins - genetics
Oligonucleotide Array Sequence Analysis - methods
Proteins - genetics
title Microarray design using virtual hybridization to study variations in REP-CMT1A sites
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-29T09%3A10%3A05IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Microarray%20design%20using%20virtual%20hybridization%20to%20study%20variations%20in%20REP-CMT1A%20sites&rft.jtitle=Gaceta%20m%C3%A9dica%20de%20M%C3%A9xico&rft.au=Hern%C3%A1ndez-Zamora,%20Edgar&rft.date=2008-01&rft.volume=144&rft.issue=1&rft.spage=1&rft.epage=6&rft.pages=1-6&rft.issn=0016-3813&rft_id=info:doi/&rft_dat=%3Cproquest_pubme%3E69310199%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=69310199&rft_id=info:pmid/18619050&rfr_iscdi=true