Table 2.
Haplotypes with D13S314, D13S301, D13S316 for three prevalent pathogenic variants in Wilson’s disease (WD) patients from Japan, Taiwan, China and Hong Kong, China.
| Study | Variant | Haplotype | No. of Chromosomes | ||
|---|---|---|---|---|---|
| D13S314 | D13S301 | D13S316 | |||
| Japan [20] | p.R778L | 5 | 5 | 6 | 1 |
| 5 | 7 | 4 | 2 | ||
| 5 | 7 | 5 | 1 | ||
| 5 | 7 | 5.5 | 4 | ||
| 5 | 7 | 7 | 1 | ||
| p.P992L | 6 | 9 | 4 | 3 | |
| Taiwan, China [21] | p.R778L | 8 | 4 | 4 | 4 |
| 8 | 4 | 5.5 | 4 | ||
| p.P992L | 8.5 | 6.5 | 2 | 2 | |
| 8.5 | 6.5 | 5.5 | 3 | ||
| Hong Kong, China [22] | p.R778L | 10 | 4 | 7 | 5 |
| 10 | 5 | 7 | 2 | ||
| 10 | 6 | 7 | 5 | ||
| 10 | 9 | 7 | 1 | ||
| 13 | 3 | 7 | 1 | ||
| p.P992L | 10 | 7 | 4 | 7 | |
| 10 | 7 | 8 | 1 | ||
| p.T935M | 13 | 1 | 8 | 1 | |
| 13 | 3 | 8 | 1 | ||