RESUMO
X-linked forms of retinitis pigmentosa (XLRP) are among the most severe because of their early onset, often leading to significant visual impairment before the fourth decade. RP3, genetically localized at Xp21.1, accounts for 70% of XLRP in different populations. The RPGR (Retinitis Pigmentosa GTPase Regulator) gene that was isolated from the RP3 region is mutated in 20% of North American families with XLRP. From mutation analysis of 27 independent XLRP families, we have identified five novel RPGR mutations in 5 of the families (160delA, 789 A>T, IVS8+1 G>C, 1147insT and 1366 G>A). One of these mutations was detected in a family from Chile. Hum Mutat 17:151, 2001.
Assuntos
Proteínas de Transporte/genética , Proteínas do Olho , Retinose Pigmentar/genética , Cromossomo X/genética , DNA/química , DNA/genética , Análise Mutacional de DNA , Feminino , Mutação da Fase de Leitura , Ligação Genética , Humanos , Masculino , Mutagênese Insercional , Mutação , Mutação de Sentido Incorreto , Retinose Pigmentar/patologia , Deleção de SequênciaAssuntos
Proteínas de Transporte , Mapeamento Cromossômico/veterinária , Cromossomos Humanos Par 2 , Cobre/metabolismo , Doenças do Cão/genética , Proteínas Fúngicas/genética , Erros Inatos do Metabolismo/veterinária , Proteínas de Saccharomyces cerevisiae , Animais , Sequência de Bases , Cromossomos Bacterianos , Primers do DNA , Doenças do Cão/metabolismo , Cães , Humanos , Hibridização in Situ Fluorescente , Erros Inatos do Metabolismo/genética , Erros Inatos do Metabolismo/metabolismoRESUMO
Our group has developed more than 600 DNA markers to build a map of the canine genome. Of these markers, 125 correspond to genes (anchor loci). Here we report the first six autosomal genes assigned to canine chromosomes by fluorescence in situ hybridization (FISH), using cosmid DNA: adenine phosphoribosyl transferase on Chromosome (Chr) 3; creatine kinase muscle type on Chr 4; pyruvate kinase liver and red blood cell type on Chr 2; and colony-stimulating factor-1 receptor, glucose transporter protein-2, and tumor protein p53 on Chr 5. These assignments are based on the karyotype proposed by Stone and associates (Genome 34, 407, 1991) using high-resolution techniques. In addition, we have assigned the Menkes gene to the X Chr of the dog.
