Linkage mapping of canine rod cone dysplasia type 2 (rcd2) to CFA7, the canine orthologue of human 1q32.

摘要: PURPOSE: To map the canine rcd2 retinal degeneration locus. Rod-cone dysplasia type 2 (rcd2), an early-onset autosomal recessive form of progressive atrophy (PRA), is phenotypically similar to forms retinitis pigmentosa collectively termed Leber congenital amaurosis and segregates naturally in collie breed dog. Multiple genes have previously been evaluated as candidates for rcd2, but all excluded. METHODS: A set informative experimental pedigrees segregating phenotype was produced. genome-wide scan these using a 241 markers undertaken. refine localized homology between human maps, RH identified region built 3000 cR panel. positional candidate gene strategy then undertaken begin evaluate potentially causative genes. RESULTS: locus responsible mapped CFA7 corresponding chromosome 1, q32.1-q32.2. Maximum linkage observed marker FH3972 (theta = 0.02; lod 25.53), critical flanked by FH2226 FH3972. As CRB1 closest on 1q known cause degeneration, gene-specific were developed, this excluded rcd2. CONCLUSIONS: The represents novel gene. It anticipated that when identified, will offer new insights into developmental degenerative processes, opportunities exploring therapies.