MOLECULAR-GENETICS OF RETINITIS-PIGMENTOSA

被引:227
作者
DRYJA, TP [1 ]
LI, T [1 ]
机构
[1] HARVARD UNIV,MASSACHUSETTS EYE & EAR INFIRM,SCH MED,BERMAN GUND LAB STUDY RETINAL DEGENERAT,BOSTON,MA 02114
关键词
D O I
10.1093/hmg/4.suppl_1.1739
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Hereditary degenerations and dysfunctions of the retina are an extremely heterogeneous group of diseases. This summary deals with recent advances in the molecular genetics of a subset of those disorders, namely, those encompassed under the diagnosis 'retinitis pigmentosa'. Over 20 loci where mutations cause retinitis pigmentosa have been mapped; the review focuses on the seven retinitis pigmentosa loci that have been identified.
引用
收藏
页码:1739 / 1743
页数:5
相关论文
共 85 条
  • [1] IDENTIFICATION OF A 6TH LOCUS FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA ON CHROMOSOME-19
    ALMAGHTHEH, M
    INGLEHEARN, CF
    KEEN, TJ
    EVANS, K
    MOORE, AT
    JAY, M
    BIRD, AC
    BHATTACHARYA, SS
    [J]. HUMAN MOLECULAR GENETICS, 1994, 3 (02) : 351 - 354
  • [2] RHODOPSIN MUTATIONS IN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA
    ALMAGHTHEH, M
    GREGORY, C
    INGLEHEARN, C
    HARDCASTLE, A
    BHATTACHARYA, S
    [J]. HUMAN MUTATION, 1993, 2 (04) : 249 - 255
  • [3] APPLEBURY ML, 1986, TRIGGERING AMPLIFICA
  • [4] LOCALIZATION OF PERIPHERIN/RDS IN THE DISK MEMBRANES OF CONE AND ROD PHOTORECEPTORS - RELATIONSHIP TO DISK MEMBRANE MORPHOGENESIS AND RETINAL DEGENERATION
    ARIKAWA, K
    MOLDAY, LL
    MOLDAY, RS
    WILLIAMS, DS
    [J]. JOURNAL OF CELL BIOLOGY, 1992, 116 (03) : 659 - 667
  • [5] AYYAGARI R, 1994, INVEST OPHTH VIS SCI, V35, P2143
  • [6] CLONING OF THE CDNA FOR A NOVEL PHOTORECEPTOR MEMBRANE-PROTEIN (ROM-1) IDENTIFIES A DISK RIM PROTEIN FAMILY IMPLICATED IN HUMAN RETINOPATHIES
    BASCOM, RA
    MANARA, S
    COLLINS, L
    MOLDAY, RS
    KALNINS, VI
    MCINNES, RR
    [J]. NEURON, 1992, 8 (06) : 1171 - 1184
  • [7] BASCOM RA, 1992, AM J HUM GENET, V51, P1028
  • [8] IDENTIFICATION AND OVERLAPPING EXPRESSION OF MULTIPLE UNCONVENTIONAL MYOSIN GENES IN VERTEBRATE CELL-TYPES
    BEMENT, WM
    HASSON, T
    WIRTH, JA
    CHENEY, RE
    MOOSEKER, MS
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (14) : 6549 - 6553
  • [9] BERSON EL, 1968, ARCH OPHTHALMOL-CHIC, V80, P58
  • [10] BERSON EL, 1993, INVEST OPHTH VIS SCI, V34, P1659