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Genet Mol Res ; 9(3): 1914-20, 2010 Sep 28.
Artículo en Inglés | MEDLINE | ID: mdl-20882487

RESUMEN

Otosclerosis (MIM 166800) is primarily a metabolic bone disorder of the otic capsule, which leads to bony fixation of the stapedial footplate in the oval window; it is among the most common causes of acquired hearing loss. The etiology of this disease is largely unknown, although epidemiological studies suggest the involvement of both genetic and environmental factors. Recently, a reelin gene, SNP rs3914132, located in intron 2, was shown to be associated with otosclerosis in a European population. When we sequenced blood DNA samples of 85 individuals with otosclerosis and 85 controls, four SNPs of this gene: rs3914131 (P = 0.6463), rs3914132 (P = 0.1822), rs9641319 (P = 0.7371), and rs10227303 (P = 0.5669) were not significantly associated with this disease. In one familial case, a novel variant (C/T) at contig position 2923488 was found to be inherited by the proband and affected family members.


Asunto(s)
Moléculas de Adhesión Celular Neuronal/genética , Proteínas de la Matriz Extracelular/genética , Proteínas del Tejido Nervioso/genética , Otosclerosis/genética , Polimorfismo de Nucleótido Simple/genética , Serina Endopeptidasas/genética , Adolescente , Adulto , Anciano , Femenino , Predisposición Genética a la Enfermedad , Humanos , India/epidemiología , Masculino , Persona de Mediana Edad , Otosclerosis/epidemiología , Proteína Reelina , Adulto Joven
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