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dc.contributor.authorKamenarova, Kunka-
dc.contributor.authorRomero-Durán, Margarita-
dc.contributor.authorValdés-Sánchez, María Lourdes-
dc.contributor.authorBhattacharya, Shom Shanker-
dc.contributor.authorChakarova, Christina-
dc.date.accessioned2015-09-29T11:33:47Z-
dc.date.available2015-09-29T11:33:47Z-
dc.date.issued2012-08-29-
dc.identifierdoi: 10.1038/ejhg.2012.158-
dc.identifierissn: 1018-4813-
dc.identifiere-issn: 1476-5438-
dc.identifier.citationEuropean Journal of Human Genetics 21(3): 338-342 (2013)-
dc.identifier.urihttp://hdl.handle.net/10261/122785-
dc.descriptionKamenarova, Kunka et al.-
dc.description.abstractHere we report recruitment of a three-generation Romani (Gypsy) family with autosomal dominant cone-rod dystrophy (adCORD). Involvement of known adCORD genes was excluded by microsatellite (STR) genotyping and linkage analysis. Subsequently, two independent total-genome scans using STR markers and single-nucleotide polymorphisms (SNPs) were performed. Haplotype analysis revealed a single 6.7-Mb novel locus between markers D10S1757 and D10S1782 linked to the disease phenotype on chromosome 10q26. Linkage analysis gave a maximum LOD score of 3.31 for five fully informative STR markers within the linked interval corresponding to the expected maximum in the family. Multipoint linkage analysis of SNP genotypes yielded a maximum parametric linkage score of 2.71 with markers located in the same chromosomal interval. There is no previously mapped CORD locus in this interval, and therefore the data reported here is novel and likely to identify a new gene that may eventually contribute to new knowledge on the pathogenesis of this condition. Sequencing of several candidate genes within the mapped interval led to negative findings in terms of the underlying molecular pathogenesis of the disease in the family. Analysis by comparative genomic hybridization excluded large chromosomal aberrations as causative of adCORD in the pedigree.-
dc.description.sponsorshipThis work was supported by grants from: Fundación Progresso y Salud (Project No: 113.GI02.0.0000), Spain; Foundation Fighting Blindness (USA); RP Fighting Blindness (UK); National Science Fund, Bulgarian Ministry of Education, Youth and Science (Contract G-3/2004). The Molecular Medicine Center was supported by infrastructure grants from: National Science Fund, Bulgarian Ministry of Education, Youth and Science (DUNK01-2/2009) and the Science Fund, Medical University – Sofia (8I/2009).-
dc.publisherNature Publishing Group-
dc.relation.isversionofPostprint-
dc.rightsclosedAccess-
dc.subjectLinkage analysis-
dc.subjectCone-rod dystrophy-
dc.subjectNovel locus-
dc.titleA novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q-
dc.typeartículo-
dc.identifier.doi10.1038/ejhg.2012.158-
dc.relation.publisherversionhttp://dx.doi.org/10.1038/ejhg.2012.158-
dc.date.updated2015-09-29T11:33:47Z-
dc.description.versionPeer Reviewed-
dc.language.rfc3066eng-
dc.contributor.funderFundación Progreso y Salud-
dc.contributor.funderFoundation Fighting Blindness-
dc.contributor.funderBulgarian National Science Fund-
dc.contributor.funderMinistry of Education, Youth and Science (Bulgaria)-
dc.contributor.funderMedical University Sofia-
dc.relation.csic-
dc.identifier.funderhttp://dx.doi.org/10.13039/501100003336es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/501100003335es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/100009086es_ES
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