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Volumn 35, Issue 2, 1998, Pages 141-145

A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33

Author keywords

Autosomal recessive retinitis pigmentosa; Chromosome 2q; Linkage analysis

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 1Q; CHROMOSOME 2Q; CHROMOSOME 6P; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA DETERMINATION; ELECTRORETINOGRAPHY; FEMALE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HAPLOTYPE; HUMAN; HUMAN CELL; MALE; MARKER GENE; PHOTOTRANSDUCTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

EID: 0031960799     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.2.141     Document Type: Article
Times cited : (30)

References (31)
  • 2
    • 0029088343 scopus 로고
    • Molecular genetics of retinitis pigmeniosa
    • Dryja TP, Li T. Molecular genetics of retinitis pigmeniosa. Hum Mol Genet 1995;4:1739-43. -
    • (1995) Hum Mol Genet , vol.4 , pp. 1739-1743
    • Dryja, T.P.1    Li, T.2
  • 3
    • 0026878962 scopus 로고
    • A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa
    • Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet 1992;1:209-13.
    • (1992) Nat Genet , vol.1 , pp. 209-213
    • Rosenfeld, P.J.1    Cowley, G.S.2    McGee, T.L.3    Sandberg, M.A.4    Berson, E.L.5    Dryja, T.P.6
  • 4
    • 0028789921 scopus 로고
    • Autosomal recessive retinitis pigmentosa caused by mutations in the a-subunit of rod cGMPphosphodiesterase
    • Huang SH, Pittler SJ, Huang XH, Oliveira L, Berson EL, Dryja TP. Autosomal recessive retinitis pigmentosa caused by mutations in the a-subunit of rod cGMPphosphodiesterase. Nat Genet 1995;11:468-71.
    • (1995) Nat Genet , vol.11 , pp. 468-471
    • Huang, S.H.1    Pittler, S.J.2    Huang, X.H.3    Oliveira, L.4    Berson, E.L.5    Dryja, T.P.6
  • 5
    • 0028939390 scopus 로고
    • Recessive mutations in the gene encoding the -subunit of rod phosphodiesterase in patients with retinitis pigmentosa
    • McLaughlin ME, Ehrhart TL, Berson EL, Dryja TP. Recessive mutations in the gene encoding the -subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Proc NatlAcad Sei USA 1995;92:3249-53.
    • (1995) Proc NatlAcad Sei USA , vol.92 , pp. 3249-3253
    • McLaughlin, M.E.1    Ehrhart, T.L.2    Berson, E.L.3    Dryja, T.P.4
  • 6
    • 0028921035 scopus 로고
    • Homozygous tandem duplication within the gene encoding the betasubunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa
    • Bayes M, Giordano M, Balcells S, et al. Homozygous tandem duplication within the gene encoding the betasubunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa. Hum Mutât 1995;5:228-34.
    • (1995) Hum Mutât , vol.5 , pp. 228-234
    • Bayes, M.1    Giordano, M.2    Balcells, S.3
  • 7
    • 0028867410 scopus 로고
    • Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa
    • Danciger M, Blaney J, Gao YQ, et al. Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. Gettomics 1995;30:l-7.
    • (1995) Gettomics , vol.30 , pp. 7
    • Danciger, M.1    Blaney, J.2    Gao, Y.Q.3
  • 8
    • 0028820045 scopus 로고
    • Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa
    • Dryja TP, Finn JT, Peng YW, McGee TL, Berson EL, Yau K\V. Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc NatlAcad Sei USA 1995;92:1177-81.
    • (1995) Proc NatlAcad Sei USA , vol.92 , pp. 1177-1181
    • Dryja, T.P.1    Finn, J.T.2    Peng, Y.W.3    McGee, T.L.4    Berson, E.L.5    Kv, Y.6
  • 9
    • 0027933727 scopus 로고
    • Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome Iq31-q32.1 in an inbred and genetically heterogeneous disease population
    • van Soest S, Vandenborn LI, Gal A, et al. Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome Iq31-q32.1 in an inbred and genetically heterogeneous disease population. Genomics 1994;22:499504.
    • (1994) Genomics , vol.22 , pp. 499504
    • Soest, S.1    Vandenborn, L.I.2    Gal, A.3
  • 10
    • 0028917492 scopus 로고
    • Autosomal recessive retinitis pigmentosa locus maps on chromosome Iq in a large consanguineous family from Pakistan
    • Leutelt J, Oehlmann R, Younus F, et al. Autosomal recessive retinitis pigmentosa locus maps on chromosome Iq in a large consanguineous family from Pakistan. Clin Genet 1995;47:122-4.
    • (1995) Clin Genet , vol.47 , pp. 122-124
    • Leutelt, J.1    Oehlmann, R.2    Younus, F.3
  • 11
    • 0028017387 scopus 로고
    • Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p
    • Knowles JA, Shugart Y, Banerjee P, et al. Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. Hum Mol Geriet 1994;3:1401-3.
    • (1994) Hum Mol Geriet , vol.3 , pp. 1401-1403
    • Knowles, J.A.1    Shugart, Y.2    Banerjee, P.3
  • 12
    • 0031568891 scopus 로고    scopus 로고
    • A new locus for autosomal recessive retinitis pigmentosa maps to Ipl3p21
    • Martinez-Mir A, Bayes M, Vilageliu D, et al. A new locus for autosomal recessive retinitis pigmentosa maps to Ipl3p21. Genomics 1997;40:142-6.
    • (1997) Genomics , vol.40 , pp. 142-146
    • Martinez-Mir, A.1    Bayes, M.2    Vilageliu, D.3
  • 13
    • 12644290290 scopus 로고    scopus 로고
    • Autosomal recessive retinitis pigmentosa in Spain: Evaluation of 4 genes and 2 loci involved in the disease
    • Bayes M, Marrinez-lir A, Valverde D, et al. Autosomal recessive retinitis pigmentosa in Spain: evaluation of 4 genes and 2 loci involved in the disease. Clin Genet 1996;SO:380-7.
    • (1996) Clin Genet , pp. 380-387
    • Bayes, M.1    Marrinez-lir, A.2    Valverde, D.3
  • 14
    • 0029005186 scopus 로고
    • Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families
    • Bayes M, Valverde D, Balcells S, et al. Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families. Hum Genet 1995;96:8994.
    • (1995) Hum Genet , vol.96 , pp. 8994
    • Bayes, M.1    Valverde, D.2    Balcells, S.3
  • 15
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dyke DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dyke, D.D.2    Polesky, H.F.3
  • 17
    • 0024582686 scopus 로고
    • Abundant class of human DNA polymorphisms wh ich can be typed using the polymerase chain reaction
    • Weber JL, May PE. Abundant class of human DNA polymorphisms wh ich can be typed using the polymerase chain reaction. Am J Hum Genet 1989;44:388-96.
    • (1989) Am J Hum Genet , vol.44 , pp. 388-396
    • Weber, J.L.1    May, P.E.2
  • 20
    • 0028274964 scopus 로고
    • Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa
    • Hahn LB, Berson EL, Dryja TP. Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa. Invest Ophthalmol Vis Sei 1994;35: 1077-82.
    • (1994) Invest Ophthalmol Vis Sei , vol.35 , pp. 1077-1082
    • Hahn, L.B.1    Berson, E.L.2    Dryja, T.P.3
  • 21
    • 0026525316 scopus 로고
    • Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis
    • Sheffield VC, Beck JS, Nichols B, Cousineau A, Lidral AC, Stone EM. Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis. Am J Hum Genet 1992;50:567-75.
    • (1992) Am J Hum Genet , vol.50 , pp. 567-575
    • Sheffield, V.C.1    Beck, J.S.2    Nichols, B.3    Cousineau, A.4    Lidral, A.C.5    Stone, E.M.6
  • 23
    • 0028231090 scopus 로고
    • The 1993-94 Gênéthon human genetic linkage map
    • Gyapay G, Morissatte J, Vignal A, et al. The 1993-94 Gênéthon human genetic linkage map. Nat Genet 1994;7:246338.
    • (1994) Nat Genet , vol.7 , pp. 246338
    • Gyapay, G.1    Morissatte, J.2    Vignal, A.3
  • 25
    • 0028601349 scopus 로고
    • Cloning and characterization of the gene encoding the cGMPphosphodiesterase gamma-subunit of human rod photoreceptor cells
    • Piriev NI, Khramtsov NV, Upkin VM. Cloning and characterization of the gene encoding the cGMPphosphodiesterase gamma-subunit of human rod photoreceptor cells. Gene 1994;151:297-301.
    • (1994) Gene , vol.151 , pp. 297-301
    • Piriev, N.I.1    Khramtsov, N.V.2    Upkin, V.M.3
  • 28
    • 0028607407 scopus 로고
    • Recent advances in the gene map of inherited eye disorders. Primary hereditary diseases of the retina, choroid, and vitreous
    • Rosenfeld PJ, McKusick VA, Amberger JS, Dryja TP. Recent advances in the gene map of inherited eye disorders. Primary hereditary diseases of the retina, choroid, and vitreous. JMed Genet 1994;31:903-15.
    • (1994) JMed Genet , vol.31 , pp. 903-915
    • Rosenfeld, P.J.1    McKusick, V.A.2    Amberger, J.S.3    Dryja, T.P.4
  • 29
    • 0025003896 scopus 로고
    • Assignment of the S-antigen gene (SAG) to human chromosome 2q24-q37
    • Ngo JT, Klisak I, Sparkes RS, al. Assignment of the S-antigen gene (SAG) to human chromosome 2q24-q37. Genomks 1990;7:84-7.
    • (1990) Genomks , vol.7 , pp. 84-87
    • Ngo, J.T.1    Klisak, I.2    Sparkes, R.S.3
  • 30
    • 0028023502 scopus 로고
    • Chromosome mapping of the human arrestin (SAG), beta-arrestin 2 (ARRB2), and beta-adrenergic receptor kinase 2 (ADRBK2) genes
    • Calabrese G, Sallese M, Stornaiuolo A, Stuppia L, Palka G, Deblasi A. Chromosome mapping of the human arrestin (SAG), beta-arrestin 2 (ARRB2), and beta-adrenergic receptor kinase 2 (ADRBK2) genes. Genomics 1994;23: 286-8.
    • (1994) Genomics , vol.23 , pp. 286-288
    • Calabrese, G.1    Sallese, M.2    Stornaiuolo, A.3    Stuppia, L.4    Palka, G.5    Deblasi, A.6
  • 31
    • 0027282112 scopus 로고
    • a2-chimerin, an SH2containing GTPase-activating protein for the ras-related protein p21"c derived by alternate splicing of the human n-chimerin gene, is selectively expressed in brain regions and testes
    • Hall C, Sin WC, Teo M, et al. a2-chimerin, an SH2containing GTPase-activating protein for the ras-related protein p21"c derived by alternate splicing of the human n-chimerin gene, is selectively expressed in brain regions and testes. Mo! Cell Bio! 1993;13:4986-98.
    • (1993) Mo! Cell Bio! , vol.13 , pp. 4986-4998
    • Hall, C.1    Sin, W.C.2    Teo, M.3


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