Table 3 of
van Lith-Verhoeven, Mol Vis 2003;
9:138-143.Table 3 of
van Lith-Verhoeven, Mol Vis 2003;
9:138-143.
Table 3. Congenital and stationary retinal disease loci
Autosomal dominant (AD) and recessive (AR) congenital and stationary retinal disease loci, listed by chromosomal location and the microsatellite markers used for linkage analysis.
Chromosomal
location AD/AR Locus Gene Disease Markers
----------- ----- ----- ------ --------------------------- ----------------
3p22 AD - GNAT1 Congenital stationary night D3S1298, D3S1289
blindness
3q21-q24 AD - RHO Congenital stationary night D3S3607, D3S1292
blindness
4p16.3 AD CSNB3 PDE6B Congenital stationary night D4S1614, D4S2957
blindness
7q31.3-q32 AD - OPN1SW Tritanopia D7S480, D7S635
1p13.1 AR - GNAT2 Achromatopsia D1S248, D1S250
2q11 AR ACHM2 CNGA3 Achromatopsia D2S113
8q21-q22 AR ACHM3 CNGB3 Achromatopsia D8S275, D8S167
15q23 AR ESCS NR2E3 Enhanced S-cone syndrome D15S131, D15S115
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