Table 5. The results from screening both the patient and control cohort for seven ABCA4 mutations, showing the number and frequency of mutant alleles detected per mutation.
| |
Mutant alleles |
||||||
|---|---|---|---|---|---|---|---|
| Cohort | p.Cys1490Tyr | p.Arg602Trp | p.Leu2027Phe | c.5461–10T>C | c.768G>T | p.Gly863Ala | p.Arg152* |
| Patient (n=72; 144 alleles) |
16 (11.11%) |
10 (6.94%) |
12 (8.33%) |
13 (9.03%) |
13 (9.03%) |
7 (4.86%) |
7 (4.86%) |
| Control (total; n=269; 538 alleles) |
2 (0. 37%) |
2 (0. 37%) |
2 (0. 37%) |
0 |
2 (0. 37%) |
3 (0.56%) |
1 (0.19%) |
| a) Caucasian (n=100; 200 alleles) |
0 |
0 |
1 (0.5%) |
0 |
1 (0.5%) |
2 (1%) |
0 |
| b) Afrikaner (n=169; 338 alleles) | 2 (0.59%) | 2 (0.59%) | 1 (0.296%) | 0 | 1 (0.296%) | 1 (0.296%) | 1 (0.296%) |