Table 1.
PRA2 genotypes and PRA clinical status for 2500 GRs
PRA clinical status | |||||
---|---|---|---|---|---|
Genotypei | PRA case | PRA obligate carrier | Clear | Unknown | Total |
TTC8 -/- | 22 (75.9%) | 0 (0%) | 0 (0%) | 4 (0.2%) | 26 |
TTC8 +/- | 1 (3.4%) | 2 (40.0%) | 16 (3.5%) | 130 (6.5%) | 149 |
TTC8 +/+ | 6 (20.7%) | 3 (60.0%) | 443 (96.5%) | 1873 (93.3%) | 2325 |
Total | 29 | 5 | 459 | 2007 | 2500 |
iThe wildtype allele is represented by “+” and the mutant allele by “-”.