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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author Garcia Linares, Carles
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
author_browse Biayna, Josep
Garcia Linares, Carles
Gel Moreno, Bernat
Lázaro García, Conxi
Mercadé, Jaume
Serra Arenas, Eduard
Terribas Pérez, Ernest
author_facet Garcia Linares, Carles
Mercadé, Jaume
Gel Moreno, Bernat
Biayna, Josep
Terribas Pérez, Ernest
Lázaro García, Conxi
Serra Arenas, Eduard
author_role author
collection Dipòsit Digital de la UB
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.
eu_rights_str_mv openAccess
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institution Universidad de Barcelona
instname_str Universidad de Barcelona
network_acronym_str ES
network_name_str España
oai_identifier_str oai:diposit.ub.edu:2445/126517
publishDate 2012
publishDateSort 2012
publisher Public Library of Science (PLoS)
publisherStr Public Library of Science (PLoS)
reponame_str Dipòsit Digital de la UB
spelling Applying Microsatellite Multiplex PCR Analysis (MMPA) for Determining Allele Copy-Number Status and Percentage of Normal Cells within Tumors Garcia Linares, Carles Mercadé, Jaume Gel Moreno, Bernat Biayna, Josep Terribas Pérez, Ernest Lázaro García, Conxi Serra Arenas, Eduard Neurofibromatosi Reacció en cadena de la polimerasa Neurofibromatosis Polymerase chain reaction 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. Public Library of Science (PLoS) https://hdl.handle.net/2445/126517
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
status_str publishedVersion
title 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_short 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
topic Neurofibromatosi
Reacció en cadena de la polimerasa
Neurofibromatosis
Polymerase chain reaction
topic_facet Neurofibromatosi
Reacció en cadena de la polimerasa
Neurofibromatosis
Polymerase chain reaction
url https://hdl.handle.net/2445/126517