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. 1997 Feb;34(2):117–121. doi: 10.1136/jmg.34.2.117

Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q.

M Votruba 1, A T Moore 1, S S Bhattacharya 1
PMCID: PMC1050863  PMID: 9039986

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.

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Selected References

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  1. Attwood J., Bryant S. A computer program to make linkage analysis with LIPED and LINKAGE easier to perform and less prone to input errors. Ann Hum Genet. 1988 Jul;52(Pt 3):259–259. doi: 10.1111/j.1469-1809.1988.tb01103.x. [DOI] [PubMed] [Google Scholar]
  2. Bonneau D., Souied E., Gerber S., Rozet J. M., D'Haens E., Journel H., Plessis G., Weissenbach J., Munnich A., Kaplan J. No evidence of genetic heterogeneity in dominant optic atrophy. J Med Genet. 1995 Dec;32(12):951–953. doi: 10.1136/jmg.32.12.951. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Campuzano V., Montermini L., Moltò M. D., Pianese L., Cossée M., Cavalcanti F., Monros E., Rodius F., Duclos F., Monticelli A. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996 Mar 8;271(5254):1423–1427. doi: 10.1126/science.271.5254.1423. [DOI] [PubMed] [Google Scholar]
  4. Dib C., Fauré S., Fizames C., Samson D., Drouot N., Vignal A., Millasseau P., Marc S., Hazan J., Seboun E. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 1996 Mar 14;380(6570):152–154. doi: 10.1038/380152a0. [DOI] [PubMed] [Google Scholar]
  5. Eiberg H., Kjer B., Kjer P., Rosenberg T. Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis. Hum Mol Genet. 1994 Jun;3(6):977–980. doi: 10.1093/hmg/3.6.977. [DOI] [PubMed] [Google Scholar]
  6. Eliott D., Traboulsi E. I., Maumenee I. H. Visual prognosis in autosomal dominant optic atrophy (Kjer type). Am J Ophthalmol. 1993 Mar 15;115(3):360–367. doi: 10.1016/s0002-9394(14)73589-5. [DOI] [PubMed] [Google Scholar]
  7. Gyapay G., Morissette J., Vignal A., Dib C., Fizames C., Millasseau P., Marc S., Bernardi G., Lathrop M., Weissenbach J. The 1993-94 Généthon human genetic linkage map. Nat Genet. 1994 Jun;7(2 Spec No):246–339. doi: 10.1038/ng0694supp-246. [DOI] [PubMed] [Google Scholar]
  8. Hoyt C. S. Autosomal dominant optic atrophy. A spectrum of disability. Ophthalmology. 1980 Mar;87(3):245–251. doi: 10.1016/s0161-6420(80)35247-0. [DOI] [PubMed] [Google Scholar]
  9. Inglehearn C. F., Keen T. J., Bashir R., Jay M., Fitzke F., Bird A. C., Crombie A., Bhattacharya S. A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. Hum Mol Genet. 1992 Apr;1(1):41–45. doi: 10.1093/hmg/1.1.41. [DOI] [PubMed] [Google Scholar]
  10. Kjer B., Eiberg H., Kjer P., Rosenberg T. Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects. Acta Ophthalmol Scand. 1996 Feb;74(1):3–7. doi: 10.1111/j.1600-0420.1996.tb00672.x. [DOI] [PubMed] [Google Scholar]
  11. Kjer P., Jensen O. A., Klinken L. Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy. Acta Ophthalmol (Copenh) 1983 Apr;61(2):300–312. doi: 10.1111/j.1755-3768.1983.tb01424.x. [DOI] [PubMed] [Google Scholar]
  12. Kline L. B., Glaser J. S. Dominant optic atrophy. The clinical profile. Arch Ophthalmol. 1979 Sep;97(9):1680–1686. doi: 10.1001/archopht.1979.01020020248013. [DOI] [PubMed] [Google Scholar]
  13. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet. 1985 May;37(3):482–498. [PMC free article] [PubMed] [Google Scholar]
  14. Meindl A., Dry K., Herrmann K., Manson F., Ciccodicola A., Edgar A., Carvalho M. R., Achatz H., Hellebrand H., Lennon A. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet. 1996 May;13(1):35–42. doi: 10.1038/ng0596-35. [DOI] [PubMed] [Google Scholar]
  15. Plowman G. D., Brown J. P., Enns C. A., Schröder J., Nikinmaa B., Sussman H. H., Hellström K. E., Hellström I. Assignment of the gene for human melanoma-associated antigen p97 to chromosome 3. Nature. 1983 May 5;303(5912):70–72. doi: 10.1038/303070a0. [DOI] [PubMed] [Google Scholar]
  16. Saiki R. K., Gelfand D. H., Stoffel S., Scharf S. J., Higuchi R., Horn G. T., Mullis K. B., Erlich H. A. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science. 1988 Jan 29;239(4839):487–491. doi: 10.1126/science.2448875. [DOI] [PubMed] [Google Scholar]
  17. Smith D. P. Diagnostic criteria in cominantly inherited juvenile optic atrophy. A report of three new families. Am J Optom Arch Am Acad Optom. 1972 Mar;49(3):183–200. doi: 10.1097/00006324-197203000-00001. [DOI] [PubMed] [Google Scholar]

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