Table 3.
Distributional genotypes in 39 PKU patients
| Genotype | Polymorphism | Number of patients |
|---|---|---|
| u/u | c.168+19T>C, c.1155G>C, c.696A>G | 1 |
| c.838G>Ap.E280K/c.838G>Ap.E280K | c.735G>A, c.912G>A, c.1155C>G | 1 |
| u/u | c.1155C>G | 1 |
| c.782G>Ap.R261Q/c.782G>Ap.R261Q | c.1155C>G | 1 |
| u/u | c.735G>A, c.1155C>G | 1 |
| u/u | c.168+19T>C, c.1155G>C, c.696A>G | 1 |
| c.842C>T-p.P281L/c.842C>T-p.P281L | c.696A>G, c.1155C>G | 2 |
| u/u | c.168+19T>C, c.1155G>C, c.696A>G | 1 |
| c.781C>T-p.R261X/c.781C>T-p.R261X | c.1155C>G | 1 |
| c.755G>A-p.R252Q/U | c.696A>G, c.1155C>G | 1 |
| c.842C>Tp.P281L/c.842C>Tp.P281L | c.696A>G, c.1155C>G | 1 |
| u/u | c.696A>G, c.1155C>G | 1 |
| c.755G>A-p.R252Q/U | c.-71A>C | 1 |
| IVS9+1G>T/U | c.696A>G, c.1155C>G | 1 |
| C781C>T-p.R261X/C781C>T-p.R261X | c.696A>G, c.1155C>G | 1 |
| c.782G>A-p.R261Q/c.782G>A-p.R261Q | c.696A>G, c.1155C>G | 2 |
| c.755G>A-p.R252Q/c.755G>A-p.R252Q | c.696A>G, c.1155C>G, c.168+19T>C | 1 |
| c.526C>T-p.R176X/c.526C>T-p.R176X | c.-71A>C | 1 |
| c.526C>Tp.R176X/c.526C>Tp.R176X | c.1155C>G | 1 |
| c.143T>C, p.L48S/c.143T>C, p.L48S | c.1155C>G | 1 |
| u/u | c.1155C>G | 1 |
| IVS2+5G>A/IVS2+5G>A | 1 | |
| c.848T>A-p.I283N/c.848T>A-p.I283N | 1 | |
| u/u | c.168+19T>C, c.1155C>G | 1 |
| c.526C>T-p.R176X/c.526C>T-p.R176X | c.696A>G, c.1155C>G | 2 |
| c.842C>T-p.P281L/IVS11+1G>C | c.696A>G, c.1155C>G | 1 |
| c.842C>T-p.P281L/c.842C>T-p.P281L | c.696A>G, c.1155C>G | 1 |
| c.632delC p.P211>Hfs/c.632delC p.P211>Hfs | c.1155C>G, c.735 G>A | 1 |
| u/u | c.735G>A, c.1155C>G | 1 |
| c.728G>A-p.R243Q/U | c.735G>A, c.1155C>G | 1 |
| IVS9+5G>A/U | c.735G>A, c.1155C>G | 1 |
| IVS9+5G>A/U | c.696A>G, c.1155C>G | 1 |
| c.728G>A-p.R243Q/c.1069T>C-p.C357R | c735G>A | 1 |
| u/u | c.696A>G, c.1155C>G | 1 |
| IVS2+5G>C/IVS2+5G>C | c.696A>G, c.843T>A, c.1155C>G | 1 |
| u/u | c.735G>A, IVS3-22C>T | 1 |
U unidentified