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) |