FECH Allele Distribution in 39 Unrelated EPP Families
| Polymorphisms . | Alleles . | Controls (n = 70) . | EPP Patients (n = 39) . | Normal Parents (n = 16) . | Transmitter Parents (n = 22) . |
|---|---|---|---|---|---|
| −251A/G | A | 122 | 33 | 12 | 36 |
| G | 18 | 45 | 20 | 8 | |
| (49.00, <10−6)* | (37.29, <10−6) | (0.78, NS) | |||
| IVS1 − 23C/T | C | 119 | 34 | 11 | 37 |
| T | 21 | 44 | 21 | 7 | |
| (41.04, <10−6) | (36.7, <10−6) | (0.02, NS) | |||
| IVS2μsatAn1-10 | 1 | 18 | 4 | 4 | 8 |
| 2 | 6 | 0 | 0 | 0 | |
| 3 | 20 | 7 | 4 | 9 | |
| 4 | 1 | 0 | 0 | 0 | |
| 5 | 1 | 0 | 0 | 0 | |
| 6 | 1 | 1 | 0 | 0 | |
| 7 | 10 | 3 | 0 | 4 | |
| 8 | 3 | 0 | 0 | 1 | |
| 9 | 80 | 62 | 24 | 22 | |
| 10 | 0 | 1 | 0 | 0 | |
| (11.01, <10−3)† | (3.47, 0.06) | (0.69, NS) | |||
| 798G/C | G | 104 | 50 | 19 | 30 |
| C | 36 | 28 | 13 | 14 | |
| (2.5, NS) | (2.8, NS) | (0.63, NS) | |||
| 1520C/T | C | 120 | 52 | 21 | 38 |
| T | 20 | 26 | 11 | 6 | |
| (10.90, <10−3) | (7.11, <10−2) | (0.01, NS) |
| Polymorphisms . | Alleles . | Controls (n = 70) . | EPP Patients (n = 39) . | Normal Parents (n = 16) . | Transmitter Parents (n = 22) . |
|---|---|---|---|---|---|
| −251A/G | A | 122 | 33 | 12 | 36 |
| G | 18 | 45 | 20 | 8 | |
| (49.00, <10−6)* | (37.29, <10−6) | (0.78, NS) | |||
| IVS1 − 23C/T | C | 119 | 34 | 11 | 37 |
| T | 21 | 44 | 21 | 7 | |
| (41.04, <10−6) | (36.7, <10−6) | (0.02, NS) | |||
| IVS2μsatAn1-10 | 1 | 18 | 4 | 4 | 8 |
| 2 | 6 | 0 | 0 | 0 | |
| 3 | 20 | 7 | 4 | 9 | |
| 4 | 1 | 0 | 0 | 0 | |
| 5 | 1 | 0 | 0 | 0 | |
| 6 | 1 | 1 | 0 | 0 | |
| 7 | 10 | 3 | 0 | 4 | |
| 8 | 3 | 0 | 0 | 1 | |
| 9 | 80 | 62 | 24 | 22 | |
| 10 | 0 | 1 | 0 | 0 | |
| (11.01, <10−3)† | (3.47, 0.06) | (0.69, NS) | |||
| 798G/C | G | 104 | 50 | 19 | 30 |
| C | 36 | 28 | 13 | 14 | |
| (2.5, NS) | (2.8, NS) | (0.63, NS) | |||
| 1520C/T | C | 120 | 52 | 21 | 38 |
| T | 20 | 26 | 11 | 6 | |
| (10.90, <10−3) | (7.11, <10−2) | (0.01, NS) |