Linkage analysis in Usher syndrome type I (USH1) families from Spain.
AUTOR(ES)
Espinós, C
RESUMO
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 USH1 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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1051313Documentos Relacionados
- Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.
- Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15.
- Usher Syndrome Type III: Revised Genomic Structure of the USH3 Gene and Identification of Novel Mutations
- Pulmonary vascular lesions in the toxic oil syndrome in Spain.
- Pulmonary vascular lesions in the toxic oil syndrome in Spain.