Table 1.
Haplotypes with D13S314, D13S301, D13S316 for three prevalent pathogenic variants in Wilson’ s disease (WD) patients from mainland China.
| Variant | Group 1 | Haplotype | No. of Chromosomes (%) | ||||
|---|---|---|---|---|---|---|---|
| D13S314 | D13S301 | D13S316 | WD | Control (n = 177) | |||
| p.R778L (n = 100) | A | A1 | 10 | 7 | 7 | 57(57.0) | 4(2.3) |
| A2 | 10 | 7 | 8 | 7(7.0) | 3(1.7) | ||
| A3 | 10 | 8 | 7 | 30(30.0) | 8(4.5) | ||
| A4 | 10 | 8 | 8 | 3(3.0) | 2(1.1) | ||
| Subtotal | 97(97.0) ** | 17(9.6) | |||||
| B | 10 | 7 | 9 | 1(1.0) | 0(0.0) | ||
| C | C1 | 12 | 5 | 7 | 1(1.0) | 0(0.0) | |
| C2 | 12 | 6 | 7 | 1(1.0) | 0(0.0) | ||
| p.P992L (n = 29) | D | 9 | 7 | 5 | 1(3.4) | 13(7.3) | |
| E | E1 | 10 | 9 | 5 | 20(69.0) | 6(3.4) | |
| E2 | 10 | 9 | 6 | 1(3.4) | 0(0.0) | ||
| Subtotal | 21(72.4) ** | 6(3.4) | |||||
| F | 10 | 9 | 8 | 2(6.9) | 0(0.0) | ||
| G | 10 | 11 | 5 | 1(3.4) | 0(0.0) | ||
| H | H1 | 12 | 4 | 5 | 1(3.4) | 5(2.8) | |
| H2 | 12 | 5 | 5 | 2(6.9) | 8(4.5) | ||
| I | 12 | 5 | 8 | 1(3.4) | 9(5.1) | ||
| p.T935M (n = 14) | J | J1 | 12 | 4 | 8 | 11(78.6) | 18(10.2) |
| J2 | 12 | 5 | 8 | 3(21.4) | 9(5.1) | ||
| Subtotal | 14(100.0) ** | 27(15.3) | |||||
“1” represent different haplogroups are represented by corresponding letters. The haplotype variants in the same haplogroup are displayed by the same letter with Arabic numbers in order. Asterisks indicate the frequency of chromosomes with the corresponding variant in this haplogroup was significantly higher than that of control chromosomes (** p < 0.01).