Summary of ocular genetic disorders and inherited systemic conditions with eye findings

被引:6
作者
MacDonald, IM [1 ]
Haney, PM [1 ]
Musarella, MA [1 ]
机构
[1] Univ Alberta, Ocular Genet Lab, Dept Ophthalmol, Edmonton, AB T6G 2S2, Canada
关键词
genome; genes; mapping; cloning; inherited ocular disorders;
D O I
10.1076/opge.19.1.1.2181
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Of the close to 10,000 known inherited disorders that affect humankind, a disproportionately high number affect the eye. The total number of genes responsible for the normal structure, function, and differentiation of the eye is unknown, but the list of these genes is rapidly and constantly growing. The objective of this paper is to provide a current list of mapped and/or cloned human eye genes that are responsible for inherited diseases of the eye. The ophthalmologist should be aware of recent advances in molecular technology which have resulted in significant progress towards the identification of these genes. The implications of this new knowledge will be discussed herein.
引用
收藏
页码:1 / 17
页数:17
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共 267 条
[21]  
BARTLEY J, 1989, CYTOGENET CELL GENET, V51, P959
[22]   POLYMORPHISMS AND RARE SEQUENCE VARIANTS AT THE ROM1 LOCUS [J].
BASCOM, RA ;
LIU, L ;
HUMPHRIES, P ;
FISHMAN, GA ;
MURRAY, JC ;
MCINNES, RR .
HUMAN MOLECULAR GENETICS, 1993, 2 (11) :1975-1977
[23]  
BASCOM RA, 1992, AM J HUM GENET, V51, P1028
[24]   CLONING OF THE GENE FOR OCULAR ALBINISM TYPE-1 FROM THE DISTAL SHORT ARM OF THE X-CHROMOSOME [J].
BASSI, MT ;
SCHIAFFINO, MV ;
RENIERI, A ;
DENIGRIS, F ;
GALLI, L ;
BRUTTINI, M ;
GEBBIA, M ;
BERGEN, AAB ;
LEWIS, RA ;
BALLABIO, A .
NATURE GENETICS, 1995, 10 (01) :13-19
[25]   Autosomal dominant zonular cataract with sutural opacities in a four-generation family [J].
Basti, S ;
Hejtmancik, JF ;
Padma, T ;
Ayyagari, R ;
KaiserKupfer, MI ;
Murty, JS ;
Rao, GN .
AMERICAN JOURNAL OF OPHTHALMOLOGY, 1996, 121 (02) :162-168
[26]   ASSIGNMENT OF THE BETA-SUBUNIT OF ROD PHOTORECEPTOR CGMP PHOSPHODIESTERASE GENE PDEB (HOMOLOG OF THE MOUSE-RD GENE) TO HUMAN CHROMOSOME-4P16 [J].
BATEMAN, JB ;
KLISAK, I ;
KOJIS, T ;
MOHANDAS, T ;
SPARKES, RS ;
LI, TS ;
APPLEBURY, ML ;
BOWES, C ;
FARBER, DB .
GENOMICS, 1992, 12 (03) :601-603
[27]   HOMOZYGOUS TANDEM DUPLICATION WITHIN THE GENE ENCODING THE BETA-SUBUNIT OF ROD PHOSPHODIESTERASE AS A CAUSE FOR AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA [J].
BAYES, M ;
GIORDANO, M ;
BALCELLS, S ;
GRINBERG, D ;
VILAGELIU, L ;
MARTINEZ, I ;
AYUSO, C ;
BENITEZ, J ;
RAMOSARROYO, MA ;
CHIVELET, P ;
SOLANS, T ;
VALVERDE, D ;
AMSELEM, S ;
GOOSSENS, M ;
BAIGET, M ;
GONZALEZDUARTE, R ;
BESMOND, C .
HUMAN MUTATION, 1995, 5 (03) :228-234
[28]  
BECHHANSEN NT, 1990, HUM GENET, V84, P406
[29]   Recombinational and physical mapping of the locus for primary open-angle glaucoma (GLC1A) on chromosome 1q23-q25 [J].
Belmouden, A ;
Adam, MF ;
deDinechin, SD ;
Brezin, AP ;
Rigault, P ;
Chumakov, I ;
Bach, JF ;
Garchon, HJ .
GENOMICS, 1997, 39 (03) :348-358
[30]   Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1 [J].
Bergen, AAB ;
tenBrink, JB ;
Riemslag, F ;
Schuurman, EJM ;
Meire, F ;
Tijmes, M ;
deJong, PTVM .
JOURNAL OF MEDICAL GENETICS, 1996, 33 (10) :869-872