Asunto(s)
Mutación , Polidactilia/genética , Sindactilia/genética , Dedos del Pie/anomalías , Animales , Cruzamientos Genéticos , Femenino , Heterocigoto , Homocigoto , Deformidades Congénitas de las Extremidades/genética , Masculino , Ratones , Ratones Endogámicos C3H , Fenotipo , Recombinación GenéticaRESUMEN
Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is an autosomal dominant condition clinically characterized by behavioral, cognitive, and motor disturbances. Until now, at least 13 different FTDP-17 families that show linkage to chromosome 17q21 have been described. To characterize the FTDP-17 candidate region, flanked by the markers D17S1789 and D17S1804, we constructed a physical map in P1 and PAC clones. A detailed transcript map was generated by positioning known genes and EST clusters to the physical map. In total, we investigated 150 STSs mapped to this region. In addition, novel transcripts were isolated by exon-trapping. We were able to localize 19 known genes and a number of ESTs to this chromosomal region. Furthermore, seven novel genes were identified for which we isolated the full-length sequence.
Asunto(s)
Cromosomas Humanos Par 17/genética , Demencia/genética , Proteínas Asociadas a Microtúbulos/genética , Trastornos Parkinsonianos/genética , Secuencia de Bases , Cartilla de ADN/genética , Exones , Etiquetas de Secuencia Expresada , Genes Dominantes , Marcadores Genéticos , Humanos , Mapeo Físico de Cromosoma , Proteínas tauRESUMEN
Preaxial polydactyly is a congenital hand malformation that includes duplicated thumbs, various forms of triphalangeal thumbs, and duplications of the index finger. A locus for preaxial polydactyly has been mapped to a region of 1.9 cM on chromosome 7q36 between polymorphic markers D7S550 and D7S2423. We constructed a detailed physical map of the preaxial polydactyly candidate region. With a combination of methods we identified and positioned 11 transcripts within this map. By recombination analysis on families with preaxial polydactyly, using newly developed polymorphic markers, we were able to reduce the candidate region to approximately 450 kb. The homeobox gene HLXB9, a putative receptor C7orf2, and two transcripts of unknown function, C7orf3 and C7orf4, map in the refined candidate region and have been subjected to mutation analysis in individuals with preaxial polydactyly.
