Table 2 of
van Lith-Verhoeven, Mol Vis 2003;
9:138-143.
Table 2. Autosomal recessive macular, RPE and choroidal dystrophy loci and LCA loci
Autosomal recessive macular, RPE and choroidal dystrophy loci and Leber congenital amaurosis loci, listed by chromosomal location and the microsatellite markers used for linkage analysis.
Chromosomal location Locus Gene Disease Markers ----------- ----- ------- --------------------------- --------------------- 1p31 LCA2 RPE65 Leber congenital amaurosis D1S246, D1S430 1p21-22 STGD1 ABCA4 Stargardt disease, cone-rod D1S424, D1S497 dystrophy 1q12-24 CORD8 - Cone-rod dystrophy D1S506, APOA2, D1S194 1q31-q32.1 - CRB1 Leber congenital amaurosis F13B, D1S238, D1S2683 4p16.2 - PROML1 Retinal degeneration D4S3048, D4S419 6q11-q16 LCA5 - Leber congenital amaurosis D6S1681, D6S1609, D6S1613, D6S300 8p11 CORD9 - Cone-rod dystrophy D8S1771, D8S1810, D8S87, D8S1737 10q24 - RBP4 RPE degeneration D10S583, D10S603 10q26 - OAT Gyrate atrophy D10S534, D10S187 12q13-q14 - RDH5 Cone dystrophy D12S1618, D12S1691 14q11 - RPGRIP1 Leber congenital amaurosis D14S50, D14S1032, D14S80 14q24 LCA3 - Leber congenital amaurosis D14S999, D14S287, D14S48, D14S81 15q26 - RLBP1 Bothnia dystrophy D15S115, D15S202 17p13-p12 RCD2 - Cone-rod dystrophy D17S786, D17S945 17p13.1 LCA4 AIPL1 Leber congenital amaurosis D17S1876, D17S786 17p13.1 LCA1 GUCY2D Leber congenital amaurosis D17S1876, D17S786 19q13.3 - CRX Leber congenital amaurosis D19S867, D19S572 |