Chromosomal mapping and refinement of the localization of a glaucoma gene at 2cen-2q12 in a Peruvian family: Advances towards the identification of the GLC1B gene

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Molecular genetics is an important tool to elucidate the cause of hereditary diseases. One of the strategies used in this type of studies, is to map the gene responsible of the disease to a specific chromosome region. This has helped in the characterization of some genes, but others remain to be ide...

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Detalles Bibliográficos
Autores: Guevara-Fujita, María Luisa, Pérez-Grossman, Rodolfo, Enrique, Vargas, Fujita, Ricardo
Formato: artículo
Fecha de Publicación:2022
Institución:Universidad de San Martín de Porres
Repositorio:Horizonte médico
Lenguaje:español
OAI Identifier:oai:horizontemedico.usmp.edu.pe:article/2015
Enlace del recurso:https://www.horizontemedico.usmp.edu.pe/index.php/horizontemed/article/view/2015
Nivel de acceso:acceso abierto
Materia:Diagnóstico molecular
Enfermedades genéticas
Glaucoma
Mapeo
Ligamiento genético
Molecular Diagnosis
Genetic diseases
Mapping
Genetic Linkage
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spelling Chromosomal mapping and refinement of the localization of a glaucoma gene at 2cen-2q12 in a Peruvian family: Advances towards the identification of the GLC1B geneMapeo cromosómico y refinamiento de la localización de un gen de glaucoma en 2cen-2q12 en una familia peruana: avances hacia la identificación del gen GLC1BGuevara-Fujita, María LuisaPérez-Grossman, RodolfoEnrique, VargasFujita, RicardoDiagnóstico molecularEnfermedades genéticasGlaucomaMapeoLigamiento genéticoMolecular DiagnosisGenetic diseasesGlaucomaMappingGenetic LinkageMolecular genetics is an important tool to elucidate the cause of hereditary diseases. One of the strategies used in this type of studies, is to map the gene responsible of the disease to a specific chromosome region. This has helped in the characterization of some genes, but others remain to be identified. Primau Open Angle Glaucoma (POAG) is a hereditary disease that can lead to blindness if untreated. There are six loci for POAG: GLClA on chromosome region lq24.3-q25.2, GLClB (2cenq13), GLClC (3q21-q24), GLClD (8q23), GLClE (10p14p15) y GLClF (7q35-q36). In a study of several POAG Peruvian families we have characterized one that cosegregates with markers of chromosome 2 corresponding to a new reported family for GLCIB located at 2cen-2q13. One additional individual in the family reveals genetic recombination that refines the position to a smaller region in 2cen-q12 eliminating several millions of base pairs in the search of the GLCIB gene.La genética molecular es una herramienta que está revelando los genes responsables de enfermedades hereditarias, incluso algunos de ellos han sido ya identificados y caracterizados. En otros genes la identificación está más cercana porque se les ha localizado (mapeado) en regiones cromosómicas específicas donde su búsqueda se refina paulatinamente. El glaucoma primario de ángulo abierto (GPAA) es una anomalía hereditaria que sin tratamiento puede llevar a la ceguera, pero si es detectado tempranamente, permite preservar la visión. Hay 6 loci (genes) para GPAA: GLCIA localizado en la región cromosómica lq24.3-q25.2, GLCIB (2cen-q13), GLClC (3q21-q24), GLCID (8q23), GLCIE (10p14-p15) y GLClF (7q35-q36). Hemos estudiado varias familias peruanas con GPAA para analizar su asociación con marcadores en las regiones mencionadas. Una familia de Chincha ha mostrado cosegregación con marcadores de 2cenq13 indicando que el glaucoma en esta familia pertenece a GLClB. Un análisis posterior con más familiares nos revela una recombinación que restringe la región critica para GLCIB a 2cen-q12. Esta reducción en términos genómicos descarta varios millones de nucleótidos y muchos genes de 2q13 facilitando la identificación de GLCIB.Universidad de San Martín de Porres. Facultad de Medicina Humana2022-08-18info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://www.horizontemedico.usmp.edu.pe/index.php/horizontemed/article/view/201510.24265/horizmed.2003.v3n1.03Horizonte Médico (Lima); Vol. 3 No. 1/2 (2003)Horizonte Médico (Lima); Vol. 3 Núm. 1/2 (2003)Horizonte Médico (Lima); v. 3 n. 1/2 (2003)2227-35301727-558Xreponame:Horizonte médicoinstname:Universidad de San Martín de Porresinstacron:USMPspahttps://www.horizontemedico.usmp.edu.pe/index.php/horizontemed/article/view/2015/1237Derechos de autor 2022 Horizonte Médico (Lima)https://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessoai:horizontemedico.usmp.edu.pe:article/20152022-08-18T03:55:04Z
dc.title.none.fl_str_mv Chromosomal mapping and refinement of the localization of a glaucoma gene at 2cen-2q12 in a Peruvian family: Advances towards the identification of the GLC1B gene
Mapeo cromosómico y refinamiento de la localización de un gen de glaucoma en 2cen-2q12 en una familia peruana: avances hacia la identificación del gen GLC1B
title Chromosomal mapping and refinement of the localization of a glaucoma gene at 2cen-2q12 in a Peruvian family: Advances towards the identification of the GLC1B gene
spellingShingle Chromosomal mapping and refinement of the localization of a glaucoma gene at 2cen-2q12 in a Peruvian family: Advances towards the identification of the GLC1B gene
Guevara-Fujita, María Luisa
Diagnóstico molecular
Enfermedades genéticas
Glaucoma
Mapeo
Ligamiento genético
Molecular Diagnosis
Genetic diseases
Glaucoma
Mapping
Genetic Linkage
title_short Chromosomal mapping and refinement of the localization of a glaucoma gene at 2cen-2q12 in a Peruvian family: Advances towards the identification of the GLC1B gene
title_full Chromosomal mapping and refinement of the localization of a glaucoma gene at 2cen-2q12 in a Peruvian family: Advances towards the identification of the GLC1B gene
title_fullStr Chromosomal mapping and refinement of the localization of a glaucoma gene at 2cen-2q12 in a Peruvian family: Advances towards the identification of the GLC1B gene
title_full_unstemmed Chromosomal mapping and refinement of the localization of a glaucoma gene at 2cen-2q12 in a Peruvian family: Advances towards the identification of the GLC1B gene
title_sort Chromosomal mapping and refinement of the localization of a glaucoma gene at 2cen-2q12 in a Peruvian family: Advances towards the identification of the GLC1B gene
dc.creator.none.fl_str_mv Guevara-Fujita, María Luisa
Pérez-Grossman, Rodolfo
Enrique, Vargas
Fujita, Ricardo
author Guevara-Fujita, María Luisa
author_facet Guevara-Fujita, María Luisa
Pérez-Grossman, Rodolfo
Enrique, Vargas
Fujita, Ricardo
author_role author
author2 Pérez-Grossman, Rodolfo
Enrique, Vargas
Fujita, Ricardo
author2_role author
author
author
dc.subject.none.fl_str_mv Diagnóstico molecular
Enfermedades genéticas
Glaucoma
Mapeo
Ligamiento genético
Molecular Diagnosis
Genetic diseases
Glaucoma
Mapping
Genetic Linkage
topic Diagnóstico molecular
Enfermedades genéticas
Glaucoma
Mapeo
Ligamiento genético
Molecular Diagnosis
Genetic diseases
Glaucoma
Mapping
Genetic Linkage
description Molecular genetics is an important tool to elucidate the cause of hereditary diseases. One of the strategies used in this type of studies, is to map the gene responsible of the disease to a specific chromosome region. This has helped in the characterization of some genes, but others remain to be identified. Primau Open Angle Glaucoma (POAG) is a hereditary disease that can lead to blindness if untreated. There are six loci for POAG: GLClA on chromosome region lq24.3-q25.2, GLClB (2cenq13), GLClC (3q21-q24), GLClD (8q23), GLClE (10p14p15) y GLClF (7q35-q36). In a study of several POAG Peruvian families we have characterized one that cosegregates with markers of chromosome 2 corresponding to a new reported family for GLCIB located at 2cen-2q13. One additional individual in the family reveals genetic recombination that refines the position to a smaller region in 2cen-q12 eliminating several millions of base pairs in the search of the GLCIB gene.
publishDate 2022
dc.date.none.fl_str_mv 2022-08-18
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://www.horizontemedico.usmp.edu.pe/index.php/horizontemed/article/view/2015
10.24265/horizmed.2003.v3n1.03
url https://www.horizontemedico.usmp.edu.pe/index.php/horizontemed/article/view/2015
identifier_str_mv 10.24265/horizmed.2003.v3n1.03
dc.language.none.fl_str_mv spa
language spa
dc.relation.none.fl_str_mv https://www.horizontemedico.usmp.edu.pe/index.php/horizontemed/article/view/2015/1237
dc.rights.none.fl_str_mv Derechos de autor 2022 Horizonte Médico (Lima)
https://creativecommons.org/licenses/by/4.0
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Derechos de autor 2022 Horizonte Médico (Lima)
https://creativecommons.org/licenses/by/4.0
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Universidad de San Martín de Porres. Facultad de Medicina Humana
publisher.none.fl_str_mv Universidad de San Martín de Porres. Facultad de Medicina Humana
dc.source.none.fl_str_mv Horizonte Médico (Lima); Vol. 3 No. 1/2 (2003)
Horizonte Médico (Lima); Vol. 3 Núm. 1/2 (2003)
Horizonte Médico (Lima); v. 3 n. 1/2 (2003)
2227-3530
1727-558X
reponame:Horizonte médico
instname:Universidad de San Martín de Porres
instacron:USMP
instname_str Universidad de San Martín de Porres
instacron_str USMP
institution USMP
reponame_str Horizonte médico
collection Horizonte médico
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 13.461011
Chromosomal mapping and refinement of the localization of a glaucoma gene at 2cen-2q12 in a Peruvian family: Advances towards the identification of the GLC1B gene
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