Development and validation of a taqman multiplex pcr assay for the gene dosage quantification in cancer
Gene dosage tests are very important for the molecular diagnosis of diseases caused by either deletion or amplification of a specific DNA region containing certain genes. Changes in gene copy number may lead to under- or over expression of genes responsible for the disease phenotype. Discovering the...
- Autores:
-
Perdomo Lara, Sandra Janeth
Morantes, Sandra Johanna
Aristizábal Gutiérrez, Fabio Ancízar
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2012
- Institución:
- Universidad Nacional de Colombia
- Repositorio:
- Universidad Nacional de Colombia
- Idioma:
- spa
- OAI Identifier:
- oai:repositorio.unal.edu.co:unal/49252
- Acceso en línea:
- https://repositorio.unal.edu.co/handle/unal/49252
http://bdigital.unal.edu.co/42709/
http://bdigital.unal.edu.co/42709/2/
- Palabra clave:
- cáncer
oncogenes
dosis génica
PCR en tiempo real
sondas TaqMan
cancer
oncogenes
gene dosage
real time PCR
TaqMan probes
- Rights
- openAccess
- License
- Atribución-NoComercial 4.0 Internacional
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Development and validation of a taqman multiplex pcr assay for the gene dosage quantification in cancer |
| title |
Development and validation of a taqman multiplex pcr assay for the gene dosage quantification in cancer |
| spellingShingle |
Development and validation of a taqman multiplex pcr assay for the gene dosage quantification in cancer cáncer oncogenes dosis génica PCR en tiempo real sondas TaqMan cancer oncogenes gene dosage real time PCR TaqMan probes |
| title_short |
Development and validation of a taqman multiplex pcr assay for the gene dosage quantification in cancer |
| title_full |
Development and validation of a taqman multiplex pcr assay for the gene dosage quantification in cancer |
| title_fullStr |
Development and validation of a taqman multiplex pcr assay for the gene dosage quantification in cancer |
| title_full_unstemmed |
Development and validation of a taqman multiplex pcr assay for the gene dosage quantification in cancer |
| title_sort |
Development and validation of a taqman multiplex pcr assay for the gene dosage quantification in cancer |
| dc.creator.fl_str_mv |
Perdomo Lara, Sandra Janeth Morantes, Sandra Johanna Aristizábal Gutiérrez, Fabio Ancízar |
| dc.contributor.author.spa.fl_str_mv |
Perdomo Lara, Sandra Janeth Morantes, Sandra Johanna Aristizábal Gutiérrez, Fabio Ancízar |
| dc.subject.proposal.spa.fl_str_mv |
cáncer oncogenes dosis génica PCR en tiempo real sondas TaqMan cancer oncogenes gene dosage real time PCR TaqMan probes |
| topic |
cáncer oncogenes dosis génica PCR en tiempo real sondas TaqMan cancer oncogenes gene dosage real time PCR TaqMan probes |
| description |
Gene dosage tests are very important for the molecular diagnosis of diseases caused by either deletion or amplification of a specific DNA region containing certain genes. Changes in gene copy number may lead to under- or over expression of genes responsible for the disease phenotype. Discovering these defects and understanding their biological meaning can lead to improved therapeutic opportunities in cancer. Fluorescent in situ hybridization (FISH) still remains the gold standard method for gene dosage analysis. However have several limitations since locus specific probes are expensive, the procedure is significantly time-consuming and tandem microduplications may be undetected as a result of the limited resolution on metaphase spreads. Quantitative Real-time PCR is a rapid assay with results available in 24h, has advantages in terms of sensitivity and specificity. In the present study, we have developed an assay using TaqManTM multiplex Real-time PCR for gene dosage analysis of oncogenes EGFR, ERBB2, AKT2, CMYC, MYCN, MYCL1, PI3KCA and REL in human cell lines. This method calculates the copy number of each oncogen and is a promising alternative technique to FISH and Southern blot. Therefore, this technique could be considered as a powerful method gene dosage quantitation in clinical and research genetic surveys. |
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2012 |
| dc.date.issued.spa.fl_str_mv |
2012 |
| dc.date.accessioned.spa.fl_str_mv |
2019-06-29T08:31:28Z |
| dc.date.available.spa.fl_str_mv |
2019-06-29T08:31:28Z |
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Artículo de revista |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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info:eu-repo/semantics/article |
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http://purl.org/coar/resource_type/c_6501 |
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http://purl.org/coar/version/c_970fb48d4fbd8a85 |
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Text |
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http://purl.org/redcol/resource_type/ART |
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https://repositorio.unal.edu.co/handle/unal/49252 |
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http://bdigital.unal.edu.co/42709/ http://bdigital.unal.edu.co/42709/2/ |
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https://repositorio.unal.edu.co/handle/unal/49252 http://bdigital.unal.edu.co/42709/ http://bdigital.unal.edu.co/42709/2/ |
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spa |
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spa |
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http://revistas.unal.edu.co/index.php/rccquifa/article/view/44868 |
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Universidad Nacional de Colombia Revistas electrónicas UN Revista Colombiana de Ciencias Químico Farmacéuticas Revista Colombiana de Ciencias Químico Farmacéuticas |
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Revista Colombiana de Ciencias Químico Farmacéuticas; Vol. 41, núm. 1 (2012); 81-98 0034-7418 1909-6356 |
| dc.relation.references.spa.fl_str_mv |
Perdomo Lara, Sandra Janeth and Morantes, Sandra Johanna and Aristizábal Gutiérrez, Fabio Ancízar (2012) Development and validation of a taqman multiplex pcr assay for the gene dosage quantification in cancer. Revista Colombiana de Ciencias Químico Farmacéuticas; Vol. 41, núm. 1 (2012); 81-98 0034-7418 1909-6356 . |
| dc.rights.spa.fl_str_mv |
Derechos reservados - Universidad Nacional de Colombia |
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http://purl.org/coar/access_right/c_abf2 |
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Atribución-NoComercial 4.0 Internacional |
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Atribución-NoComercial 4.0 Internacional Derechos reservados - Universidad Nacional de Colombia http://creativecommons.org/licenses/by-nc/4.0/ http://purl.org/coar/access_right/c_abf2 |
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Atribución-NoComercial 4.0 InternacionalDerechos reservados - Universidad Nacional de Colombiahttp://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2Perdomo Lara, Sandra Janethb04909b6-ab6f-4948-87bb-7a2620c343f4300Morantes, Sandra Johannadb902109-58f5-4560-bc35-6bca3f2859f6300Aristizábal Gutiérrez, Fabio Ancízar7e502de9-8dc1-497d-b3ec-52803130a49a3002019-06-29T08:31:28Z2019-06-29T08:31:28Z2012https://repositorio.unal.edu.co/handle/unal/49252http://bdigital.unal.edu.co/42709/http://bdigital.unal.edu.co/42709/2/Gene dosage tests are very important for the molecular diagnosis of diseases caused by either deletion or amplification of a specific DNA region containing certain genes. Changes in gene copy number may lead to under- or over expression of genes responsible for the disease phenotype. Discovering these defects and understanding their biological meaning can lead to improved therapeutic opportunities in cancer. Fluorescent in situ hybridization (FISH) still remains the gold standard method for gene dosage analysis. However have several limitations since locus specific probes are expensive, the procedure is significantly time-consuming and tandem microduplications may be undetected as a result of the limited resolution on metaphase spreads. Quantitative Real-time PCR is a rapid assay with results available in 24h, has advantages in terms of sensitivity and specificity. In the present study, we have developed an assay using TaqManTM multiplex Real-time PCR for gene dosage analysis of oncogenes EGFR, ERBB2, AKT2, CMYC, MYCN, MYCL1, PI3KCA and REL in human cell lines. This method calculates the copy number of each oncogen and is a promising alternative technique to FISH and Southern blot. Therefore, this technique could be considered as a powerful method gene dosage quantitation in clinical and research genetic surveys.La evaluación de la dosis génica constituye una herramienta importante para el diagnóstico molecular de enfermedades causadas tanto por la pérdida o amplificación de una región específica de ADN. El cambio en el número de copias génicas, puede conllevar a la pérdida o sobreexpresión de los genes responsables de fenotipo de la enfermedad. El descubrimiento de estas alteraciones y la comprensión de su significado biológico pueden conducir al incremento de las oportunidades terapéuticas en cáncer. La hibridación fluorescente in situ (FISH) es el método de referencia para el análisis de la dosis génica “amplificación”. Sin embargo, presenta algunas limitaciones relacionadas con el costo de las sondas locus específicas; el procedimiento es demorado y las microduplicaciones en tándem podrían no ser detectadas como resultado de la limitada resolución de las metafases. En este sentido, la PCR cuantitativa es una metodología rápida y tiene ventajas en términos de sensibilidad y especificidad. En el presente estudio, se estandarizó la PCR multiplex en tiempo real para el análisis de la dosis génica de los oncogenesEGFR, ErbB2, AKT2, cMYC, MYCN, MYCL1, PI3KCA y REL en líneas celulares tumorales humanas, como una técnica alternativa al FISH para evaluar la dosis génica en muestras clínicas de cáncer.application/pdfspaRevista Colombiana de Ciencias Químico Farmacéuticashttp://revistas.unal.edu.co/index.php/rccquifa/article/view/44868Universidad Nacional de Colombia Revistas electrónicas UN Revista Colombiana de Ciencias Químico FarmacéuticasRevista Colombiana de Ciencias Químico FarmacéuticasRevista Colombiana de Ciencias Químico Farmacéuticas; Vol. 41, núm. 1 (2012); 81-98 0034-7418 1909-6356Perdomo Lara, Sandra Janeth and Morantes, Sandra Johanna and Aristizábal Gutiérrez, Fabio Ancízar (2012) Development and validation of a taqman multiplex pcr assay for the gene dosage quantification in cancer. Revista Colombiana de Ciencias Químico Farmacéuticas; Vol. 41, núm. 1 (2012); 81-98 0034-7418 1909-6356 .Development and validation of a taqman multiplex pcr assay for the gene dosage quantification in cancerArtículo de revistainfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1http://purl.org/coar/version/c_970fb48d4fbd8a85Texthttp://purl.org/redcol/resource_type/ARTcánceroncogenesdosis génicaPCR en tiempo realsondas TaqMancanceroncogenesgene dosagereal time PCRTaqMan probesORIGINAL44868-214891-1-SM.pdfapplication/pdf570183https://repositorio.unal.edu.co/bitstream/unal/49252/1/44868-214891-1-SM.pdf68ae307c8e8347985ede2667fa1b130dMD51THUMBNAIL44868-214891-1-SM.pdf.jpg44868-214891-1-SM.pdf.jpgGenerated Thumbnailimage/jpeg6293https://repositorio.unal.edu.co/bitstream/unal/49252/2/44868-214891-1-SM.pdf.jpg08e0184efa571dffd3360a31527f4cebMD52unal/49252oai:repositorio.unal.edu.co:unal/492522023-12-09 23:05:46.854Repositorio Institucional Universidad Nacional de Colombiarepositorio_nal@unal.edu.co |