Human Molecular Genetics, Vol 6, 597-600, Copyright © 1997 by Oxford University Press
RE Kelsell, K Evans, CY Gregory, AT Moore, AC Bird and DM Hunt
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.
ARTICLES
Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p
Department of Molecular Genetics, Institute of Ophthalmology, University College London, UK.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  K. W. Small, R. Silva-Garcia, N. Udar, E. V. Nguyen, and J. R. Heckenlively New Mutation, P575L, in the GUCY2D Gene in a Family With Autosomal Dominant Progressive Cone Degeneration Arch Ophthalmol, March 1, 2008; 126(3): 397 - 403. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Castori, E. M. Valente, M. Clementi, A. P. Tormene, F. Brancati, V. Caputo, and B. Dallapiccola A Novel Locus for Autosomal Dominant Cone and Cone-Rod Dystrophies Maps to the 6p Gene Cluster of Retinal Dystrophies Invest. Ophthalmol. Vis. Sci., October 1, 2005; 46(10): 3539 - 3544. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Michaelides, S. Johnson, A. K. Tekriwal, G. E. Holder, C. Bellmann, E. Kinning, G. Woodruff, R. C. Trembath, D. M. Hunt, and A. T. Moore An Early-Onset Autosomal Dominant Macular Dystrophy (MCDR3) Resembling North Carolina Macular Dystrophy Maps to Chromosome 5 Invest. Ophthalmol. Vis. Sci., May 1, 2003; 44(5): 2178 - 2183. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Michaelides, S. Johnson, A. Poulson, K. Bradshaw, C. Bellmann, D. M. Hunt, and A. T. Moore An Autosomal Dominant Bull's-Eye Macular Dystrophy (MCDR2) that Maps to the Short Arm of Chromosome 4 Invest. Ophthalmol. Vis. Sci., April 1, 2003; 44(4): 1657 - 1662. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. van der Spuy, J. P. Chapple, B. J. Clark, P. J. Luthert, C. S. Sethi, and M. E. Cheetham The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina Hum. Mol. Genet., April 1, 2002; 11(7): 823 - 831. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. B. Bateman, D. D. Geyer, P. Flodman, M. Johannes, J. Sikela, N. Walter, A. T. Moreira, K. Clancy, and M. A. Spence A New {beta}A1-Crystallin Splice Junction Mutation in Autosomal Dominant Cataract Invest. Ophthalmol. Vis. Sci., October 1, 2000; 41(11): 3278 - 3285. [Abstract] [Full Text]
|
|
|
|
|
|
M. Weigel-lWeber, S. Fokstuen, B. Torok, G. Niemeyer, A. Schinzel, and M. Hergersberg Codons 837 and 838 in the Retinal Guanylate Cyclase Gene on Chromosome 17p: Hot Spots for Mutations in Autosomal Dominant Cone-Rod Dystrophy? Arch Ophthalmol, February 1, 2000; 118(2): 300 - 300. [Full Text] [PDF]
|
|
|
|
 |
|
 T. Leicher, R. Bahring, D. Isbrandt, and O. Pongs Coexpression of the KCNA3B Gene Product with Kv1.5 Leads to a Novel A-type Potassium Channel J. Biol. Chem., December 25, 1998; 273(52): 35095 - 35101. [Abstract] [Full Text] [PDF]
|
|