Abstract
Retinitis pigmentosa is a group of clinically and genetically heterogeneous retinopathies and a significant cause of worldwide visual handicap. We have typed DNA from members of a Spanish family segregating an autosomal dominant form of retinitis pigmentosa (adRP) using a large series of simple sequence polymorphic markers. Positive two–point lod scores have been obtained with fifteen markers including D7S480 (Θmax=0.00, Zmax=7.22). Multipoint analyses using a subset of these markers gave a lod score of 7.51 maximizing at D7S480. These data provide definitive evidence for the localisation of an adRP gene on chromsome 7q, and highlight the extensive genetic heterogeneity that exists in the autosomal dominant form of this disease.
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References
Heckenlively, J.R. in Retinitis Pigmentosa 125–1490 (Lippincott, Philadelphia, 1988).
Massof, R.W. & Finkelstein, D. Two forms of autosomal dominant retinitis pigmentosa. Doc. Ophthalmol. 51, 28–346 (1981).
Lyness, A.L. et al. A clinical, psychophysical and electroretinographic survey of patients with autosomal dominant retinitis pigmentosa. Br. J. Ophthalmol. 69, 326–339 (1985).
Ott, J. et al. Localisation of multiple retinitis pigmentosa loci on the X chromosome. Proc. natn. Acad. Sci. U.S.A. 87, 701–704 (1990).
McWilliam, P. et al. Autosomal dominant retinitis pigmentosa (ADRP): localisation of an ADRP gene to the long arm of chromosome 3. Genomics 5, 619–622 (1989).
Farrar, G.J. et al. Autosomal dominant retinitis pigmentosa: Linkage to rhodopsin and evidence for genetic heterogeneity. Genomics 8, 35–40 (1990).
Humphries, P., Kenna, P. & Farrar, G.J. On the molecular genetics of autosomal dominant Retinitis Pigmentosa. Prog. Ret. Res. 12, 231–245 (1993).
Rosenfeld, P.J. et al. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal dominant retinitis pigmentosa. Nature Genet. 1, 209–213 (1992).
Farrar, G.J. et al. Autosomal dominant retinitis pigmentosa: Localisation of a disease gene (RP6) to the short arm of chromosome 6. Genomics 11, 870–874 (1991).
Jordan, S.A. et al. Autosomal dominant retinitis pigmentosa (adRP, RP6): Cosegregation of RP6 and the peripherin/RDS locus in a late-onset family of Irish origin. Am. J. hum. Genet. 50, 634–639 (1992).
Farrar, G.J. et al. Autosomal dominant Retinitis Pigmentosa: A novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree. Genomics 14, 805–807 (1992).
Farrar, G.J. et al. A three base-pair deletion in the peripherin/RDS gene in one form of retinitis pigmentosa. Nature 354, 478–480 (1991).
Kajiwara, K. et al. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 354, 480–483 (1991).
Kajiwara, K., Hahn, L.B., Mulai, S., Berson, E.L. & Dryja, T.P. Mutations in the human RDS gene in patients with autosomal dominant retinitis pigmentosa. Invest. Ophthal. Vis. Sci. 33, 1396 (1992).
Blanton, S.H. et al. Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics 11, 857–869 (1991).
Jordan, S.A. et al. Autosomal dominant Retinitis Pigmentosa (adRP): exclusion of a gene from three mapped loci provides evidence for the existence of a fourth locus. Hum. molec. Genet. 1, 411–415 (1992).
Bateman, J.B. et al. Assignment of the β-subunit of the rod photoreceptor cGMP phosphodiesterase gene PDEβ (homolog of the mouse rd gene) to human chromosome 4p16. Genomics 12, 601–603 (1992).
Ngo, T.E. et al. Assignment of the S-antigen gene (SAG) to human chromosome 2q24–q37. Genomics 7, 84–87 (1990).
Liou, G.I. et al. Human interstitial retinoid binding protein: gene structure and primary sequence. J. biol. Chem. 14, 8200–8206 (1989).
Freund, C.L. & Valle, D. Cloning and initial characterisation of the cDNA and gene for human recoverin. Am. J. hum. Genet. 51, A6 (1992).
Inglehearn, C.F. et al. Nature Genet. 4, 51–53 (1993).
Weissenbach, J. et al. A second-generation linkage map of the human genome. Nature 359, 794–801 (1992).
Zheng, K., Gieser, L., Xu, J., Swaroop, A. & Yang-Feng, T.L. Chromosomal localisation of cDNA clones from subtracted eye libraries. Am. J. hum. Genet. 51, A250 (1992).
Nathans, J., Piantanida, T.P., Eddy, R.L., Shows, T.B. & Hogness, D.S. Molecular Genetics of Inhertied Variation in Human Colour Vision. Science 232, 203–210 (1986).
Nathans, J., Thomas, D. & Hogness, D.S. Molecular genetics of human colour vision: the genes encoding blue, green and red pigments. Science 232, 193–202 (1986).
Weitz, C.J. et al. Human Tritanopia associated with two amino acid substitutions in the blue sensitive opsin. Am. J. hum. Genet. 50, 498–507 (1992).
Weitz, C.J., Went, L.N. & Nathans, J. Human Tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. Am. J. hum. Genet. 51, 444–446 (1992).
Marmor, M.F., Arden, G.B., Nilsson, S.E.G. & Zrenner, E. Standard for clinical electroretinography. Arch. Ophthalmol. 107, 816–819 (1989).
Attwood, J. & Bryant, S. A computer program to make analysis with LIPED and LINKAGE easier to perform and less prone to input errors. Ann. hum. Genet. 52, 259 (1988).
Ott, J. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am. J. hum. Genet. 28, 528–529 (1974).
Lathrop, G.M., Lalouel, J.-M., Julier, C. & Ott, J. Strategies for multilocus linkage analysis in humans. Proc. natn. Acad. Sci. U.S.A. 81, 3443–3446 (1984).
Weber, J.L., Kwitek, A.E. & May, P.E. Dinucleotide repeat polymorphisms of the D7S435 and D7S440 loci. Nucl. Acids Res. 18, 4039 (1990).
Pearson, P.L., Matheson, N.W., Flesher, D.C. & Robbins, R.J. The GDB™ Human Genome Data Base Anno 1992. Nucl. Acids Res. 20, 2210–2206 (1992).
Richards, B., Reeves, C. & Horn, G.T. Dinucleotide repeat polymorphism closely linked to the cystic fibrosis (CFTR) gene. Nucl. Acids Res. 19, 5798 (1991).
Morral, N. & Estivill, X. Multiplex PCR amplification of three microsatellites within the CFTR gene. Genomics 13, 1362–1364 (1992).
Hudson, T.J. et al. Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms. Genomics 13, 622–629 (1992).
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Jordan, S., Farrar, G., Kenna, P. et al. Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q. Nat Genet 4, 54–58 (1993). https://doi.org/10.1038/ng0593-54
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DOI: https://doi.org/10.1038/ng0593-54
