Table 1 of
van Lith-Verhoeven, Mol Vis 2003;
9:138-143.Table 1 of
van Lith-Verhoeven, Mol Vis 2003;
9:138-143.
Table 1. Autosomal dominant macular, RPE and choroidal dystrophy loci
Autosomal dominant macular, RPE and choroidal dystrophy loci, listed by chromosomal location and the microsatellite markers used for linkage analysis.
Chromosomal
location Locus Gene Phenotype Markers
------------- ------ ------ ------------------------------------------ -------------------------
1q25-q31 ARMD1 - Age-related macular degeneration D1S238, F13B, D1S2683
2p16-p21 DHRD EFEMP1 Dominant drusen/Doyne honeycomb retinal D2S1771, D2S123
dystrophy
4p STGD4 - Stargardt disease D4S2957, D4S431, D4S394,
D4S3048, D4S419, D4S230
6p21.1 COD3 GUCA1A Cone dystrophy D6S1680, D6S1582
6p21.2-cen - RDS Adult vitelliform macular dystrophy, D6S1680, D6S1582, D6S1651
Central areolar choroidal dystrophy,
Cone-rod dystrophy, Pattern dystrophy
6q CORD7 - Cone-rod dystrophy D6S1681
6q14 STGD3 ELOVL4 Stargardt disease D6S1681, D6S1609, D6S1613
6q14-q16.2 MCDR1, - North Carolina macular dystrophy, D6S1613, D6S300, D6S302
PBCRA Progressive bifocal chorioretinal
atrophy
6q25-q26 RCD1 - Cone dystrophy D6S290, D6S305
7p21-p15 CYMD - Cystoid macula dystrophy D7S2493, D7S673
11p15 AA - Atrophia areata/chorioretinal degeneration D11S1318, D11S4149
11q13 VMD2 VMD2 Best disease D11S1883, PYGM, D11S987
17p13 CACD - Central areolar choroidal dystrophy D17S1528, D17S1876
17p13.1 CORD6 GUCY2D Cone-rod dystrophy D17S1876, D17S786
17p13.1 - AIPL1 Cone-rod dystrophy D17S1876, D17S786
17p13-p12 CORD5 - Cone-rod dystrophy D17S786, D17S945
17q11.2 - UNC119 Cone-rod dystrophy D17S798, D17S250
19q13.3 CORD2 CRX Cone-rod dystrophy D19S867, D19S572
22q12.1-q13.2 SFD TIMP3 Sorsby's fundus dystrophy D22S281, D22S421
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