Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p.
We have performed genetic linkage analysis on a four generation British family with cone-rod dystrophy. Significant linkage to the disease gene was obtained with eight marker loci situated on chromosome 17p12-p13. A maximum two-point lod score of 5.93 with no recombination was obtained with marker locus D17S1844. Critical recombinants identified with flanking marker loci placed the disease gene between D17S796/D17S938 and D17S954, an interval estimated to be 8 cM in size. This new localisation for autosomal dominant cone-rod dystrophy (CORD6) overlaps with regions attributed previously to Leber's congenital amaurosis, central areolar choroidal dystrophy and dominant cone dystrophy. Given their differences in phenotype, the most plausible explanation would be that these different retinal disorders are caused by mutations in different genes mapping close together within the genome.
Kelsell
R E
RE
Department of Molecular Genetics, Institute of Ophthalmology, University College London, UK.
Evans
K
K
Gregory
C Y
CY
Moore
A T
AT
Bird
A C
AC
Hunt
D M
DM
D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011995:Recombination, Genetic; D012174:Retinitis Pigmentosa / Q000235:genetics*; D006113:United Kingdom
D005819:Genetic Markers