Applying Microsatellite Multiplex PCR Analysis (MMPA) for Determining Allele Copy-Number Status and Percentage of Normal Cells within Tumors

The study of somatic genetic alterations in tumors contributes to the understanding and management of cancer. Genetic alterations, such us copy number or copy neutral changes, generate allelic imbalances (AIs) that can be determined using polymorphic markers. Here we report the development of a simp...

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Authors: Garcia Linares, Carles, Mercadé, Jaume, Gel Moreno, Bernat, Biayna, Josep, Terribas Pérez, Ernest, Lázaro García, Conxi, Serra Arenas, Eduard
Format: article
Status:Published version
Publication Date:2012
Country:España
Institution:Universidad de Barcelona
Repository:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/126517
Online Access:https://hdl.handle.net/2445/126517
Access Level:Open access
Keyword:Neurofibromatosi
Reacció en cadena de la polimerasa
Neurofibromatosis
Polymerase chain reaction
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spelling Applying Microsatellite Multiplex PCR Analysis (MMPA) for Determining Allele Copy-Number Status and Percentage of Normal Cells within TumorsGarcia Linares, CarlesMercadé, JaumeGel Moreno, BernatBiayna, JosepTerribas Pérez, ErnestLázaro García, ConxiSerra Arenas, EduardNeurofibromatosiReacció en cadena de la polimerasaNeurofibromatosisPolymerase chain reactionThe study of somatic genetic alterations in tumors contributes to the understanding and management of cancer. Genetic alterations, such us copy number or copy neutral changes, generate allelic imbalances (AIs) that can be determined using polymorphic markers. Here we report the development of a simple set of calculations for analyzing microsatellite multiplex PCR data from control-tumor pairs that allows us to obtain accurate information not only regarding the AI status of tumors, but also the percentage of tumor-infiltrating normal cells, the locus copy-number status and the mechanism involved in AI. We validated this new approach by re-analyzing a set of Neurofibromatosis type 1-associated dermal neurofibromas and comparing newly generated data with results obtained for the same tumors in a previous study using MLPA, Paralog Ratio Analysis and SNP-array techniques. Microsatellite multiplex PCR analysis (MMPA) should be particularly useful for analyzing specific regions of the genome containing tumor suppressor genes and also for determining the percentage of infiltrating normal cells within tumors allowing them to be sorted before they are analyzed by more expensive techniques.Public Library of Science (PLoS)2012info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/126517Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.1371/journal.pone.0042682PLoS One, 2012, vol. 7, num. 8, p. e42682https://doi.org/10.1371/journal.pone.0042682cc by (c) Garcia Linares et al., 2012http://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1265172026-05-27T06:46:51Z
dc.title.none.fl_str_mv Applying Microsatellite Multiplex PCR Analysis (MMPA) for Determining Allele Copy-Number Status and Percentage of Normal Cells within Tumors
title Applying Microsatellite Multiplex PCR Analysis (MMPA) for Determining Allele Copy-Number Status and Percentage of Normal Cells within Tumors
spellingShingle Applying Microsatellite Multiplex PCR Analysis (MMPA) for Determining Allele Copy-Number Status and Percentage of Normal Cells within Tumors
Garcia Linares, Carles
Neurofibromatosi
Reacció en cadena de la polimerasa
Neurofibromatosis
Polymerase chain reaction
title_short Applying Microsatellite Multiplex PCR Analysis (MMPA) for Determining Allele Copy-Number Status and Percentage of Normal Cells within Tumors
title_full Applying Microsatellite Multiplex PCR Analysis (MMPA) for Determining Allele Copy-Number Status and Percentage of Normal Cells within Tumors
title_fullStr Applying Microsatellite Multiplex PCR Analysis (MMPA) for Determining Allele Copy-Number Status and Percentage of Normal Cells within Tumors
title_full_unstemmed Applying Microsatellite Multiplex PCR Analysis (MMPA) for Determining Allele Copy-Number Status and Percentage of Normal Cells within Tumors
title_sort Applying Microsatellite Multiplex PCR Analysis (MMPA) for Determining Allele Copy-Number Status and Percentage of Normal Cells within Tumors
dc.creator.none.fl_str_mv Garcia Linares, Carles
Mercadé, Jaume
Gel Moreno, Bernat
Biayna, Josep
Terribas Pérez, Ernest
Lázaro García, Conxi
Serra Arenas, Eduard
author Garcia Linares, Carles
author_facet Garcia Linares, Carles
Mercadé, Jaume
Gel Moreno, Bernat
Biayna, Josep
Terribas Pérez, Ernest
Lázaro García, Conxi
Serra Arenas, Eduard
author_role author
author2 Mercadé, Jaume
Gel Moreno, Bernat
Biayna, Josep
Terribas Pérez, Ernest
Lázaro García, Conxi
Serra Arenas, Eduard
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv Neurofibromatosi
Reacció en cadena de la polimerasa
Neurofibromatosis
Polymerase chain reaction
topic Neurofibromatosi
Reacció en cadena de la polimerasa
Neurofibromatosis
Polymerase chain reaction
description The study of somatic genetic alterations in tumors contributes to the understanding and management of cancer. Genetic alterations, such us copy number or copy neutral changes, generate allelic imbalances (AIs) that can be determined using polymorphic markers. Here we report the development of a simple set of calculations for analyzing microsatellite multiplex PCR data from control-tumor pairs that allows us to obtain accurate information not only regarding the AI status of tumors, but also the percentage of tumor-infiltrating normal cells, the locus copy-number status and the mechanism involved in AI. We validated this new approach by re-analyzing a set of Neurofibromatosis type 1-associated dermal neurofibromas and comparing newly generated data with results obtained for the same tumors in a previous study using MLPA, Paralog Ratio Analysis and SNP-array techniques. Microsatellite multiplex PCR analysis (MMPA) should be particularly useful for analyzing specific regions of the genome containing tumor suppressor genes and also for determining the percentage of infiltrating normal cells within tumors allowing them to be sorted before they are analyzed by more expensive techniques.
publishDate 2012
dc.date.none.fl_str_mv 2012
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/126517
url https://hdl.handle.net/2445/126517
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1371/journal.pone.0042682
PLoS One, 2012, vol. 7, num. 8, p. e42682
https://doi.org/10.1371/journal.pone.0042682
dc.rights.none.fl_str_mv cc by (c) Garcia Linares et al., 2012
http://creativecommons.org/licenses/by/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc by (c) Garcia Linares et al., 2012
http://creativecommons.org/licenses/by/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Public Library of Science (PLoS)
publisher.none.fl_str_mv Public Library of Science (PLoS)
dc.source.none.fl_str_mv Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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