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Volumn 61, Issue 5, 1997, Pages 1059-1066

Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 19Q; FEMALE; GENE MUTATION; GENETIC LINKAGE; HETEROZYGOTE DETECTION; HUMAN; MAJOR CLINICAL STUDY; MALE; MARKER GENE; PEDIGREE ANALYSIS; PENETRANCE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SEQUENCE HOMOLOGY;

EID: 0030731399     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301614     Document Type: Article
Times cited : (70)

References (39)
  • 2
    • 0029797311 scopus 로고    scopus 로고
    • Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11), and association with a unique bimodal expressivity phenotype
    • Al-Maghtheh M, Vithana E, Tarttelin E, Jay M, Evans K, Moore T, Bhattacharya S, et al (1996) Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11), and association with a unique bimodal expressivity phenotype. Am J Hum Genet 59:864-871
    • (1996) Am J Hum Genet , vol.59 , pp. 864-871
    • Al-Maghtheh, M.1    Vithana, E.2    Tarttelin, E.3    Jay, M.4    Evans, K.5    Moore, T.6    Bhattacharya, S.7
  • 5
    • 0018308163 scopus 로고
    • Dominant retinitis pigmentosa with reduced penetrance: Further studies of the electroretinogram
    • Berson EL, Simonoff EA (1979) Dominant retinitis pigmentosa with reduced penetrance: further studies of the electroretinogram. Arch Ophthalmol 97:1286-1291
    • (1979) Arch Ophthalmol , vol.97 , pp. 1286-1291
    • Berson, E.L.1    Simonoff, E.A.2
  • 7
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Fauré, S.2    Fizames, C.3    Samson, D.4    Drouot, N.5    Vignal, A.6    Millasseau, P.7
  • 8
    • 0029088343 scopus 로고
    • Molecular genetics of retinitis pigmentosa
    • Dryja TP, Li T (1995) Molecular genetics of retinitis pigmentosa. Hum Mol Genet 4:1739-1743
    • (1995) Hum Mol Genet , vol.4 , pp. 1739-1743
    • Dryja, T.P.1    Li, T.2
  • 12
    • 0026496257 scopus 로고
    • Fatal familial insomnia and familial Creutzfeld-Jakob disease: Disease phenotype determined by a DNA polymorphism
    • Goldfarb LG, Petersen RB, Tabaton M, Brown P, LeBlanc AC, Montagna P, Cortelli P, et al (1992) Fatal familial insomnia and familial Creutzfeld-Jakob disease: disease phenotype determined by a DNA polymorphism. Science 258:806-808
    • (1992) Science , vol.258 , pp. 806-808
    • Goldfarb, L.G.1    Petersen, R.B.2    Tabaton, M.3    Brown, P.4    LeBlanc, A.C.5    Montagna, P.6    Cortelli, P.7
  • 14
    • 0028606982 scopus 로고
    • Silence speaks in spectrin
    • Gratzer W (1994) Silence speaks in spectrin. Nature 372: 620-621
    • (1994) Nature , vol.372 , pp. 620-621
    • Gratzer, W.1
  • 15
    • 0028363788 scopus 로고
    • A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17
    • Greenberg J, Goliath R, Beighton P, Ramesar R (1994) A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17. Hum Mol Genet 3:915-918
    • (1994) Hum Mol Genet , vol.3 , pp. 915-918
    • Greenberg, J.1    Goliath, R.2    Beighton, P.3    Ramesar, R.4
  • 19
    • 0025720710 scopus 로고
    • Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
    • Kajiwara K, Hahn LB, Mukai S, Travis GH, Berson EL, Dryja TP (1991) Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 354:480-483
    • (1991) Nature , vol.354 , pp. 480-483
    • Kajiwara, K.1    Hahn, L.B.2    Mukai, S.3    Travis, G.H.4    Berson, E.L.5    Dryja, T.P.6
  • 22
    • 0028168631 scopus 로고
    • Nonallelic heterogeneity in autosomal dominant retinitis pigmentosa with incomplete penetrance
    • Kim SK, Haines JL, Berson EL, Dryja TP (1994) Nonallelic heterogeneity in autosomal dominant retinitis pigmentosa with incomplete penetrance. Genomics 22:659-660
    • (1994) Genomics , vol.22 , pp. 659-660
    • Kim, S.K.1    Haines, J.L.2    Berson, E.L.3    Dryja, T.P.4
  • 23
    • 0030070407 scopus 로고    scopus 로고
    • Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa
    • Kojis TL, Heinzmann C, Flodman P, Ngo JT, Sparkes RS, Spence MA, Bateman JB, et al (1996) Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa. Am J Hum Genet 58:347-355
    • (1996) Am J Hum Genet , vol.58 , pp. 347-355
    • Kojis, T.L.1    Heinzmann, C.2    Flodman, P.3    Ngo, J.T.4    Sparkes, R.S.5    Spence, M.A.6    Bateman, J.B.7
  • 24
    • 0029886532 scopus 로고    scopus 로고
    • Parametric and nonparametric linkage analysis: A unified multipoint approach
    • Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
    • (1996) Am J Hum Genet , vol.58 , pp. 1347-1363
    • Kruglyak, L.1    Daly, M.J.2    Reeve-Daly, M.P.3    Lander, E.S.4
  • 26
    • 0028831395 scopus 로고
    • Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: Linkage mapping in a second, unrelated family
    • McGuire RE, Gannon AM, Sullivan LS, Rodriguez JA, Daiger SP (1995) Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family. Hum Genet 95: 71-74
    • (1995) Hum Genet , vol.95 , pp. 71-74
    • McGuire, R.E.1    Gannon, A.M.2    Sullivan, L.S.3    Rodriguez, J.A.4    Daiger, S.P.5
  • 27
    • 0030013386 scopus 로고    scopus 로고
    • Mapping the RP10 locus for autosomal dominant retinitis pigmentosa on 7q: Refined genetic positioning and localization within a well-defined YAC contig
    • McGuire RE, Jordan SA, Braden W, Bouffard GG, Humphries P, Green ED, Daiger SP (1996) Mapping the RP10 locus for autosomal dominant retinitis pigmentosa on 7q: refined genetic positioning and localization within a well-defined YAC contig. Genome Res 6:255-266
    • (1996) Genome Res , vol.6 , pp. 255-266
    • McGuire, R.E.1    Jordan, S.A.2    Braden, W.3    Bouffard, G.G.4    Humphries, P.5    Green, E.D.6    Daiger, S.P.7
  • 28
    • 0029048954 scopus 로고
    • An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q
    • Millán JM, Martínez F, Vilela C, Beneyto M, Prieto F, Nájera C (1995) An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q. Hum Genet 96: 216-218
    • (1995) Hum Genet , vol.96 , pp. 216-218
    • Millán, J.M.1    Martínez, F.2    Vilela, C.3    Beneyto, M.4    Prieto, F.5    Nájera, C.6
  • 29
    • 0029760228 scopus 로고    scopus 로고
    • Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q
    • Mohamed Z, Bell C, Hammer HM, Converse CA, Esakowitz L, Haites NE (1996) Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q. J Med Genet 33:714-715
    • (1996) J Med Genet , vol.33 , pp. 714-715
    • Mohamed, Z.1    Bell, C.2    Hammer, H.M.3    Converse, C.A.4    Esakowitz, L.5    Haites, N.E.6
  • 30
    • 0028351904 scopus 로고
    • Fatal familial insomnia and familial Creutzfeld-Jakob disease: Different prion proteins determined by a DNA polymorphism
    • Monari L, Chen SG, Brown P, Parchi P, Petersen RB, Mikol J, Gray F, et al (1994) Fatal familial insomnia and familial Creutzfeld-Jakob disease: different prion proteins determined by a DNA polymorphism. Proc Natl Acad Sci USA 91:2839-2842
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 2839-2842
    • Monari, L.1    Chen, S.G.2    Brown, P.3    Parchi, P.4    Petersen, R.B.5    Mikol, J.6    Gray, F.7
  • 31
    • 0029918889 scopus 로고    scopus 로고
    • Variable expressivity in a Japanese family with autosomal dominant retinitis pigmentosa closely linked to chromosome 19q
    • Nakazawa M, Xu S, Gal A, Wada Y, Tamai M (1996) Variable expressivity in a Japanese family with autosomal dominant retinitis pigmentosa closely linked to chromosome 19q. Arch Ophthalmol 114:318-322
    • (1996) Arch Ophthalmol , vol.114 , pp. 318-322
    • Nakazawa, M.1    Xu, S.2    Gal, A.3    Wada, Y.4    Tamai, M.5
  • 32
    • 0028032248 scopus 로고
    • A variant of spectrin low-expression allele αLELY carrying a hereditary elliptocytosis mutation in codon 28
    • Randon J, Boulanger L, Marechal J, Garbarz M, Vallier A, Ribeiro L, Tamagnini G, et al (1994) A variant of spectrin low-expression allele αLELY carrying a hereditary elliptocytosis mutation in codon 28. Br J Haematol 88:534-540
    • (1994) Br J Haematol , vol.88 , pp. 534-540
    • Randon, J.1    Boulanger, L.2    Marechal, J.3    Garbarz, M.4    Vallier, A.5    Ribeiro, L.6    Tamagnini, G.7
  • 33
    • 16044373177 scopus 로고    scopus 로고
    • Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12
    • Satsangi J, Parkes M, Louis E, Hashimoto L, Kato N, Welsh K, Terwilliger JD, et al (1996) Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12. Nat Genet 14:199-202
    • (1996) Nat Genet , vol.14 , pp. 199-202
    • Satsangi, J.1    Parkes, M.2    Louis, E.3    Hashimoto, L.4    Kato, N.5    Welsh, K.6    Terwilliger, J.D.7
  • 35
    • 0028300856 scopus 로고
    • Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa
    • Vaithinathan R, Berson EL, Dryja TP (1994) Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. Genomics 21:461-463
    • (1994) Genomics , vol.21 , pp. 461-463
    • Vaithinathan, R.1    Berson, E.L.2    Dryja, T.P.3
  • 36
    • 0027289475 scopus 로고
    • Low expression allele αLELY of red cell spectrin is associated with mutations in exon 40 (αV/41 polymorphism) and intron 45 and with partial skipping of exon 46
    • Wilmotte R, Maréchal J, Morlé L, Baklouti F, Philippe N, Kastally R, Kotula L, et al (1993) Low expression allele αLELY of red cell spectrin is associated with mutations in exon 40 (αV/41 polymorphism) and intron 45 and with partial skipping of exon 46. J Clin Invest 91:2091-2096
    • (1993) J Clin Invest , vol.91 , pp. 2091-2096
    • Wilmotte, R.1    Maréchal, J.2    Morlé, L.3    Baklouti, F.4    Philippe, N.5    Kastally, R.6    Kotula, L.7
  • 37
    • 0029909126 scopus 로고    scopus 로고
    • Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285
    • Xu SY, Denton M, Sullivan L, Daiger SP, Gal A (1996a) Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285. Hum Genet 98:741-743
    • (1996) Hum Genet , vol.98 , pp. 741-743
    • Xu, S.Y.1    Denton, M.2    Sullivan, L.3    Daiger, S.P.4    Gal, A.5
  • 38
    • 0028788974 scopus 로고
    • Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family
    • Xu SY, Nakazawa M, Tamai M, Gal A (1995) Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family. J Med Genet 32:915-916
    • (1995) J Med Genet , vol.32 , pp. 915-916
    • Xu, S.Y.1    Nakazawa, M.2    Tamai, M.3    Gal, A.4
  • 39
    • 0029838709 scopus 로고    scopus 로고
    • A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1
    • Xu SY, Schwartz M, Rosenberg T, Gal A (1996b) A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1. Hum Mol Genet 5:1193-1197
    • (1996) Hum Mol Genet , vol.5 , pp. 1193-1197
    • Xu, S.Y.1    Schwartz, M.2    Rosenberg, T.3    Gal, A.4


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