RESUMEN
X-linked juvenile retinoschisis (RS) has previously been localized to a 7-8 cM interval between markers at (DXS43, DXS207) and (DXS274, DXS41). Our analysis of more than 300 meioses in two multigeneration RS families identified eight recombinant RS chromosomes and narrowed the RS locus to an interval between DXS987 and DXS443. Our data suggest the following order of loci: Xpter-DXS207-DXS987-([DXS418-DXS999], RS)-DXS443-DXS365-DXS274-Xcen.
Asunto(s)
ADN Satélite/genética , Polimorfismo Genético , Secuencias Repetitivas de Ácidos Nucleicos , Enfermedades de la Retina/genética , Cromosoma X , Secuencia de Bases , Mapeo Cromosómico , Intercambio Genético , Cartilla de ADN , Femenino , Marcadores Genéticos , Haplotipos/genética , Humanos , Masculino , Datos de Secuencia Molecular , LinajeRESUMEN
Alkaptonuria (AKU; McKusick no. 203500) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity. Patients excrete large amounts of homogentisic acid in their urine and a black ochronotic pigment is deposited in their cartilage and collagenous tissues. Ochronosis is the predominant clinical complication of the disease leading to ochronotic arthropathy, dark urine, pigment changes of the skin, and other clinical features. A mutation causing alkaptonuria in the mouse has mapped to chromosome 16. Considering conserved synteny, we were able to map the human gene to chromosome 3q in six alkaptonuria pedigrees of Slovak origin.