A New Locus for Autosomal Recessive Retinitis Pigmentosa (RP19) Maps to 1p13–1p21

16 páginas, 2 figuras, 2 tablas.

Detalles Bibliográficos
Autores: Martínez Mir, Amalia, Bayés, Mónica, Vilageliu, L., Grinberg, Daniel, Ayuso, Carmen, Río, Teresa del, García-Sandoval, Blanca, Bussaglia, Elena, Baiget, Montserrat, González-Duarte, Roser, Balcells, Susanna
Tipo de recurso: artículo
Fecha de publicación:1997
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/39369
Acceso en línea:http://hdl.handle.net/10261/39369
Access Level:acceso abierto
Palabra clave:Chromosomes mapping
Chromosomes pair 1
Genes
Moleculr sequence data
Genetic linkage
Pedigree
Retinitis pigmentosa
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spelling A New Locus for Autosomal Recessive Retinitis Pigmentosa (RP19) Maps to 1p13–1p21Martínez Mir, AmaliaBayés, MónicaVilageliu, L.Grinberg, DanielAyuso, CarmenRío, Teresa delGarcía-Sandoval, BlancaBussaglia, ElenaBaiget, MontserratGonzález-Duarte, RoserBalcells, SusannaChromosomes mappingChromosomes pair 1GenesMoleculr sequence dataGenetic linkagePedigreeRetinitis pigmentosa16 páginas, 2 figuras, 2 tablas.Autosomal recessive retinitis pigmentosa (arRP) is characterized by considerable allelic and nonallelic heterogeneity. Mutations have been described in the rhodopsin gene (RHO), the genes encoding the α and β subunits of rod phosphodiesterase (PDEA and PDEB), and the gene encoding the α subunit of the cGMP-gated channel (CNCG). In addition, linkage studies in single extended pedigrees have defined two new arRP loci, at 1q and 6p. To identify the disease gene in a Spanish consanguineous arRP family, a linkage analysis was undertaken. After testing 102 polymorphic markers, a significant positive lod score (Zmax= 3.64 at θ = 0) was obtained with marker D1S188 at 1p13–p21, the same region where the Stargardt and fundus flavimaculatus (FFM) loci were previously defined. Exhaustive ophthalmologic examination of the patients clearly distinguished the disease from the Stargardt and FFM phenotypes and revealed an atypical form of arRP with choroidal atrophy as a distinctive feature.This work was supported by Spanish CICYT (SAF93-0479-062-01; SAF96-0329) and the Federación de Asociaciones de Afectados de Retinosis Pigmentaria del Estado Español (FAARPE). A. Martínez Mir y M. Bayés are recipients of a fellowship from the Generalitat de Catalunya.Peer reviewedAcademic PressConsejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]201120111997info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501http://hdl.handle.net/10261/39369reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Ingléshttp://dx.doi.org/10.1006/geno.1996.4528Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/393692026-05-22T06:33:51Z
dc.title.none.fl_str_mv A New Locus for Autosomal Recessive Retinitis Pigmentosa (RP19) Maps to 1p13–1p21
title A New Locus for Autosomal Recessive Retinitis Pigmentosa (RP19) Maps to 1p13–1p21
spellingShingle A New Locus for Autosomal Recessive Retinitis Pigmentosa (RP19) Maps to 1p13–1p21
Martínez Mir, Amalia
Chromosomes mapping
Chromosomes pair 1
Genes
Moleculr sequence data
Genetic linkage
Pedigree
Retinitis pigmentosa
title_short A New Locus for Autosomal Recessive Retinitis Pigmentosa (RP19) Maps to 1p13–1p21
title_full A New Locus for Autosomal Recessive Retinitis Pigmentosa (RP19) Maps to 1p13–1p21
title_fullStr A New Locus for Autosomal Recessive Retinitis Pigmentosa (RP19) Maps to 1p13–1p21
title_full_unstemmed A New Locus for Autosomal Recessive Retinitis Pigmentosa (RP19) Maps to 1p13–1p21
title_sort A New Locus for Autosomal Recessive Retinitis Pigmentosa (RP19) Maps to 1p13–1p21
dc.creator.none.fl_str_mv Martínez Mir, Amalia
Bayés, Mónica
Vilageliu, L.
Grinberg, Daniel
Ayuso, Carmen
Río, Teresa del
García-Sandoval, Blanca
Bussaglia, Elena
Baiget, Montserrat
González-Duarte, Roser
Balcells, Susanna
author Martínez Mir, Amalia
author_facet Martínez Mir, Amalia
Bayés, Mónica
Vilageliu, L.
Grinberg, Daniel
Ayuso, Carmen
Río, Teresa del
García-Sandoval, Blanca
Bussaglia, Elena
Baiget, Montserrat
González-Duarte, Roser
Balcells, Susanna
author_role author
author2 Bayés, Mónica
Vilageliu, L.
Grinberg, Daniel
Ayuso, Carmen
Río, Teresa del
García-Sandoval, Blanca
Bussaglia, Elena
Baiget, Montserrat
González-Duarte, Roser
Balcells, Susanna
author2_role author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv Chromosomes mapping
Chromosomes pair 1
Genes
Moleculr sequence data
Genetic linkage
Pedigree
Retinitis pigmentosa
topic Chromosomes mapping
Chromosomes pair 1
Genes
Moleculr sequence data
Genetic linkage
Pedigree
Retinitis pigmentosa
description 16 páginas, 2 figuras, 2 tablas.
publishDate 1997
dc.date.none.fl_str_mv 1997
2011
2011
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_6501
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/39369
url http://hdl.handle.net/10261/39369
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv http://dx.doi.org/10.1006/geno.1996.4528
Sí
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Academic Press
publisher.none.fl_str_mv Academic Press
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,81155

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