Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q.
Open Access
- 1 February 1997
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 34 (2) , 117-121
- https://doi.org/10.1136/jmg.34.2.117
Abstract
Autosomal dominant optic atrophy (OPA, MIM 165500) is an eye disease characterised by variable optic atrophy and reduction in visual acuity. It has an insidious onset in the first decade of life and is clinically highly heterogeneous. It is associated with a centrocecal scotoma of varying size and density and an acquired blue-yellow dyschromatopsia. Recent studies of three large Danish pedigrees have mapped a gene for dominant optic atrophy (OPA1) to a 10 cM region on chromosome 3q, between markers D3S1314 and D3S1265 (3q28-qter). Genetic linkage analysis in five British pedigrees confirms mapping to chromosome 3q28-qter. Haplotype analysis of a seven generation pedigree positions the disease causing gene between loci D3S3590 and D3S1305, corresponding to a genetic distance of 2 cM. This represents a significant linkage refinement and should facilitate positional cloning of the disease gene.Keywords
This publication has 20 references indexed in Scilit:
- A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3)Nature Genetics, 1996
- No evidence of genetic heterogeneity in dominant optic atrophy.Journal of Medical Genetics, 1995
- The 1993–94 Généthon human genetic linkage mapNature Genetics, 1994
- A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis piamentosaHuman Molecular Genetics, 1992
- A computer program to make linkage analysis with liped and linkage easier to perform and less prone to input errorsAnnals of Human Genetics, 1988
- Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA PolymeraseScience, 1988
- Assignment of the gene for human melanoma-associated antigen p97 to chromosome 3Nature, 1983
- HISTOPATHOLOGY OF EYE, OPTIC NERVE AND BRAIN IN A CASE OF DOMINANT OPTIC ATROPHYActa Ophthalmologica, 1983
- DIAGNOSTIC CRITERIA IN DOMINANTLY INHERITED JUVENILE OPTIC ATROPHY A REPORT OF THREE NEW FAMILIESOptometry and Vision Science, 1972
- Similarities between Congenital Tritan Defects and Dominant Optic-Nerve Atrophy: Coincidence or Identity?*Journal of the Optical Society of America, 1970