Table 3 PEX1 5' polymorphisms with respect to the most common mutation c.2528G > A (p.Gly843Asp)
No. of patients | c.-137T > C polymorphism | c.-53C > G polymorphism | c.2528G > A (p.Gly843Asp) genotype |
|---|---|---|---|
2 | TT | CC | het |
5 | TT | CC | hom |
6 | TT | CC | - |
2 | TC (↓) | GC (↑) | het |
2 | TC (↓) | GC (↑) | hom |
7 | TC (↓) | GC (↑) | - |
3 | TC (↓) | CC | het |
0 | TC (↓) | CC | hom |
0 | TC (↓) | CC | - |
1 | CC(↓↓) | GG (↑↑) | het |
0 | CC(↓↓) | GG (↑↑) | hom |
2 | CC(↓↓) | GG (↑↑) | - |