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Linkage Analysis in Usher Syndrome type I (USH1) Families from Spain

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Linkage Analysis in Usher Syndrome type I (USH1) Families from Spain

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dc.contributor.author Espinós-Armero, Carmen Ángeles es_ES
dc.contributor.author Nájera, Carmen es_ES
dc.contributor.author Millán, José María es_ES
dc.contributor.author Ayuso, Carmen es_ES
dc.contributor.author Baiget, Montserrat es_ES
dc.contributor.author Pérez-Garrigues, Herminio es_ES
dc.contributor.author Rodrigo, Onofre es_ES
dc.contributor.author Vilela, Concepción es_ES
dc.contributor.author Beneyto, Magdalena es_ES
dc.date.accessioned 2023-12-29T19:02:01Z
dc.date.available 2023-12-29T19:02:01Z
dc.date.issued 1998-05 es_ES
dc.identifier.uri http://hdl.handle.net/10251/201253
dc.description.abstract [EN] Usher syndrome (USH) is an autosomal recessive hereditary disorder characterised by congenital sensorineural hearing loss and gradual visual impairment secondary to retinitis pigmentosa (RP). The disorder is clinically and genetically heterogeneous. With regard to Usher type I (USH1), several subtypes have been described, the most frequent being USH1B located on chromosome 11q13.5. Of 18 USHI families studied by linkage analysis, 12 (67%) showed significant lod score values for locus D11S527 (Zmax=14.032, theta=0.000) situated on chromosome 11q. Our findings suggest considerable genetic heterogeneity in the Spanish USH1 population. It is important to note that one of our families linked to the USH1B locus shows interesting intrafamilial clinical variability. As regards the remaining six USH1 families, the linkage analysis did not provide conclusive data, although two of them show slight linkage to markers located on chromosome 3q (Zmax=1.880, theta=0.000 for D3S1279), the same location that had previously been assigned to some USH3 families. es_ES
dc.description.sponsorship The authors would like to thank the patients and their family members for their help and cooperation. We acknowledge the Asociación de retinosis pigmentaria de la Comunidad Valenciana, the FAARPEE, ONCE, Fundación ONCE, and the Fondo de Investigaciones Sanitarias (FISS No 95/1814) for financial support. es_ES
dc.language Inglés es_ES
dc.publisher BMJ es_ES
dc.relation.ispartof Journal of Medical Genetics es_ES
dc.rights Reconocimiento - No comercial (by-nc) es_ES
dc.subject Usher syndrome es_ES
dc.subject Linkage analysis es_ES
dc.subject Genetic heterogeneity es_ES
dc.subject.classification BIOLOGIA CELULAR es_ES
dc.title Linkage Analysis in Usher Syndrome type I (USH1) Families from Spain es_ES
dc.type Artículo es_ES
dc.identifier.doi 10.1136/jmg.35.5.391 es_ES
dc.relation.projectID info:eu-repo/grantAgreement/ISCIII//95%2F1814//Retinosis Pigmentaria/ es_ES
dc.rights.accessRights Abierto es_ES
dc.contributor.affiliation Universitat Politècnica de València. Escuela Técnica Superior de Ingeniería Agronómica y del Medio Natural - Escola Tècnica Superior d'Enginyeria Agronòmica i del Medi Natural es_ES
dc.description.bibliographicCitation Espinós-Armero, CÁ.; Nájera, C.; Millán, JM.; Ayuso, C.; Baiget, M.; Pérez-Garrigues, H.; Rodrigo, O.... (1998). Linkage Analysis in Usher Syndrome type I (USH1) Families from Spain. Journal of Medical Genetics. 35(5):391-398. https://doi.org/10.1136/jmg.35.5.391 es_ES
dc.description.accrualMethod S es_ES
dc.relation.publisherversion https://doi.org/10.1136/jmg.35.5.391 es_ES
dc.description.upvformatpinicio 391 es_ES
dc.description.upvformatpfin 398 es_ES
dc.type.version info:eu-repo/semantics/publishedVersion es_ES
dc.description.volume 35 es_ES
dc.description.issue 5 es_ES
dc.identifier.eissn 0022-2593 es_ES
dc.identifier.pmid 9610802 es_ES
dc.identifier.pmcid PMC1051313 es_ES
dc.relation.pasarela S\505616 es_ES
dc.contributor.funder Fundación ONCE es_ES
dc.contributor.funder Instituto de Salud Carlos III es_ES
dc.contributor.funder Fondo de Investigaciones Sanitarias es_ES
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