IDENTIFICACIÓN DE DELECIONES EN AFECTADOS DE DISTROFIA MUSCULAR DE DUCHENNE Y BECKER (DMD/DMB) Y DIAGNÓSTICO DE PORTADORAS POR METODOLOGÍAS MOLECULARES
A rehearsal of multiplex PCR (Polymerase chain reaction), was designed (6-plex) that amplifies 6 exons (51, 48, 45, 43, 19, 8) of the Dystrophin gene simultaneously, these exons is that present high mutations frequency. The deletions proportion observed in this study by means of the system 6-plex co...
- Autores:
-
Hernández Rodríguez, Patricia; Departamento de Biología Facultad de Ciencias Pontificia Universidad Javeriana
Martín Restrepo, Carlos; Instituto de Ciencias Básicas. Facultad de Medicina. Universidad del Rosario.
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2013
- Institución:
- Pontificia Universidad Javeriana
- Repositorio:
- Repositorio Universidad Javeriana
- Idioma:
- eng
- OAI Identifier:
- oai:repository.javeriana.edu.co:10554/30992
- Acceso en línea:
- http://revistas.javeriana.edu.co/index.php/scientarium/article/view/4877
http://hdl.handle.net/10554/30992
- Palabra clave:
- null
carriers identification, dosag
null
- Rights
- openAccess
- License
- Atribución-NoComercial-SinDerivadas 4.0 Internacional
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Atribución-NoComercial-SinDerivadas 4.0 Internacionalinfo:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2nullHernández Rodríguez, Patricia; Departamento de Biología Facultad de Ciencias Pontificia Universidad JaverianaMartín Restrepo, Carlos; Instituto de Ciencias Básicas. Facultad de Medicina. Universidad del Rosario.2018-02-24T15:58:59Z2020-04-15T18:09:34Z2018-02-24T15:58:59Z2020-04-15T18:09:34Z2013-05-17http://revistas.javeriana.edu.co/index.php/scientarium/article/view/48772027-13520122-7483http://hdl.handle.net/10554/30992A rehearsal of multiplex PCR (Polymerase chain reaction), was designed (6-plex) that amplifies 6 exons (51, 48, 45, 43, 19, 8) of the Dystrophin gene simultaneously, these exons is that present high mutations frequency. The deletions proportion observed in this study by means of the system 6-plex corresponded to 31,25%, almost al! the detected deletions 60% in volved the exons 44 at 52. With the propase of identifying carriers women of DMD and DMB it was used dosage gene, through this methodology 7 women carriers and 15 were identified as not carries deletions for the analyzed exons, in this study was not any woman carrier duplication. With the use dinucleotide polymorphyisms (CA)n located inside the gene was possible to establish inforrnation on X chromosome that possibly this affected in 63% ofthe analyzed women.PDFapplication/pdfengPontificia Universidad Javerianahttp://revistas.javeriana.edu.co/index.php/scientarium/article/view/4877/3757Universitas Scientiarum; Vol 7, No 1 (2002); 31-42Universitas Scientiarum; Vol 7, No 1 (2002); 31-42Universitas Scientiarum; Vol 7, No 1 (2002); 31-42nullcarriers identification, dosagnullIDENTIFICACIÓN DE DELECIONES EN AFECTADOS DE DISTROFIA MUSCULAR DE DUCHENNE Y BECKER (DMD/DMB) Y DIAGNÓSTICO DE PORTADORAS POR METODOLOGÍAS MOLECULARESnullnullnullhttp://purl.org/coar/version/c_970fb48d4fbd8a85Artículo de revistahttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/article10554/30992oai:repository.javeriana.edu.co:10554/309922023-03-28 16:16:00.66Repositorio Institucional - Pontificia Universidad Javerianarepositorio@javeriana.edu.co |
dc.title.spa.fl_str_mv |
IDENTIFICACIÓN DE DELECIONES EN AFECTADOS DE DISTROFIA MUSCULAR DE DUCHENNE Y BECKER (DMD/DMB) Y DIAGNÓSTICO DE PORTADORAS POR METODOLOGÍAS MOLECULARES |
title |
IDENTIFICACIÓN DE DELECIONES EN AFECTADOS DE DISTROFIA MUSCULAR DE DUCHENNE Y BECKER (DMD/DMB) Y DIAGNÓSTICO DE PORTADORAS POR METODOLOGÍAS MOLECULARES |
spellingShingle |
IDENTIFICACIÓN DE DELECIONES EN AFECTADOS DE DISTROFIA MUSCULAR DE DUCHENNE Y BECKER (DMD/DMB) Y DIAGNÓSTICO DE PORTADORAS POR METODOLOGÍAS MOLECULARES null carriers identification, dosag null |
title_short |
IDENTIFICACIÓN DE DELECIONES EN AFECTADOS DE DISTROFIA MUSCULAR DE DUCHENNE Y BECKER (DMD/DMB) Y DIAGNÓSTICO DE PORTADORAS POR METODOLOGÍAS MOLECULARES |
title_full |
IDENTIFICACIÓN DE DELECIONES EN AFECTADOS DE DISTROFIA MUSCULAR DE DUCHENNE Y BECKER (DMD/DMB) Y DIAGNÓSTICO DE PORTADORAS POR METODOLOGÍAS MOLECULARES |
title_fullStr |
IDENTIFICACIÓN DE DELECIONES EN AFECTADOS DE DISTROFIA MUSCULAR DE DUCHENNE Y BECKER (DMD/DMB) Y DIAGNÓSTICO DE PORTADORAS POR METODOLOGÍAS MOLECULARES |
title_full_unstemmed |
IDENTIFICACIÓN DE DELECIONES EN AFECTADOS DE DISTROFIA MUSCULAR DE DUCHENNE Y BECKER (DMD/DMB) Y DIAGNÓSTICO DE PORTADORAS POR METODOLOGÍAS MOLECULARES |
title_sort |
IDENTIFICACIÓN DE DELECIONES EN AFECTADOS DE DISTROFIA MUSCULAR DE DUCHENNE Y BECKER (DMD/DMB) Y DIAGNÓSTICO DE PORTADORAS POR METODOLOGÍAS MOLECULARES |
dc.creator.fl_str_mv |
Hernández Rodríguez, Patricia; Departamento de Biología Facultad de Ciencias Pontificia Universidad Javeriana Martín Restrepo, Carlos; Instituto de Ciencias Básicas. Facultad de Medicina. Universidad del Rosario. |
dc.contributor.author.none.fl_str_mv |
Hernández Rodríguez, Patricia; Departamento de Biología Facultad de Ciencias Pontificia Universidad Javeriana Martín Restrepo, Carlos; Instituto de Ciencias Básicas. Facultad de Medicina. Universidad del Rosario. |
dc.contributor.none.fl_str_mv |
null |
dc.subject.spa.fl_str_mv |
null carriers identification, dosag null |
topic |
null carriers identification, dosag null |
description |
A rehearsal of multiplex PCR (Polymerase chain reaction), was designed (6-plex) that amplifies 6 exons (51, 48, 45, 43, 19, 8) of the Dystrophin gene simultaneously, these exons is that present high mutations frequency. The deletions proportion observed in this study by means of the system 6-plex corresponded to 31,25%, almost al! the detected deletions 60% in volved the exons 44 at 52. With the propase of identifying carriers women of DMD and DMB it was used dosage gene, through this methodology 7 women carriers and 15 were identified as not carries deletions for the analyzed exons, in this study was not any woman carrier duplication. With the use dinucleotide polymorphyisms (CA)n located inside the gene was possible to establish inforrnation on X chromosome that possibly this affected in 63% ofthe analyzed women. |
publishDate |
2013 |
dc.date.created.none.fl_str_mv |
2013-05-17 |
dc.date.accessioned.none.fl_str_mv |
2018-02-24T15:58:59Z 2020-04-15T18:09:34Z |
dc.date.available.none.fl_str_mv |
2018-02-24T15:58:59Z 2020-04-15T18:09:34Z |
dc.type.coar.fl_str_mv |
http://purl.org/coar/resource_type/c_2df8fbb1 |
dc.type.hasversion.none.fl_str_mv |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
dc.type.local.spa.fl_str_mv |
Artículo de revista |
dc.type.coar.none.fl_str_mv |
http://purl.org/coar/resource_type/c_6501 |
dc.type.driver.none.fl_str_mv |
info:eu-repo/semantics/article |
format |
http://purl.org/coar/resource_type/c_6501 |
dc.identifier.none.fl_str_mv |
http://revistas.javeriana.edu.co/index.php/scientarium/article/view/4877 |
dc.identifier.issn.none.fl_str_mv |
2027-1352 0122-7483 |
dc.identifier.uri.none.fl_str_mv |
http://hdl.handle.net/10554/30992 |
url |
http://revistas.javeriana.edu.co/index.php/scientarium/article/view/4877 http://hdl.handle.net/10554/30992 |
identifier_str_mv |
2027-1352 0122-7483 |
dc.language.iso.none.fl_str_mv |
eng |
language |
eng |
dc.relation.uri.none.fl_str_mv |
http://revistas.javeriana.edu.co/index.php/scientarium/article/view/4877/3757 |
dc.relation.citationissue.eng.fl_str_mv |
Universitas Scientiarum; Vol 7, No 1 (2002); 31-42 |
dc.relation.citationissue.spa.fl_str_mv |
Universitas Scientiarum; Vol 7, No 1 (2002); 31-42 |
dc.relation.citationissue.por.fl_str_mv |
Universitas Scientiarum; Vol 7, No 1 (2002); 31-42 |
dc.rights.licence.*.fl_str_mv |
Atribución-NoComercial-SinDerivadas 4.0 Internacional |
dc.rights.accessrights.none.fl_str_mv |
info:eu-repo/semantics/openAccess |
dc.rights.coar.spa.fl_str_mv |
http://purl.org/coar/access_right/c_abf2 |
rights_invalid_str_mv |
Atribución-NoComercial-SinDerivadas 4.0 Internacional http://purl.org/coar/access_right/c_abf2 |
eu_rights_str_mv |
openAccess |
dc.format.spa.fl_str_mv |
PDF |
dc.format.mimetype.spa.fl_str_mv |
application/pdf |
dc.coverage.none.fl_str_mv |
null null null |
dc.publisher.eng.fl_str_mv |
Pontificia Universidad Javeriana |
institution |
Pontificia Universidad Javeriana |
repository.name.fl_str_mv |
Repositorio Institucional - Pontificia Universidad Javeriana |
repository.mail.fl_str_mv |
repositorio@javeriana.edu.co |
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1808389843148865536 |