MPO-deficient donors
| Donor . | Country . | Genotype . | Reference . |
|---|---|---|---|
| 1 | Germany | c.2031-2A>C/c.2031-2A>C | 38 |
| 2 | USA | c.2031-2A>C/c.2031-2A>C | |
| 3 | France | c.1555-1568del14, p.M519PfsX21/c.1907C>T, p.T636M and c.2031-2A>C | 27 |
| 4 | France | c.995C>T, p.A332V/c. 2031-2A>C | 27 |
| 5 | Luxembourg | c.752T>C, p.M251T/c.1705C>T, p.R569W | |
| 6 | USA | c.929T>C, p.M251T/g.8089C>T, pR569W | 39 |
| Donor . | Country . | Genotype . | Reference . |
|---|---|---|---|
| 1 | Germany | c.2031-2A>C/c.2031-2A>C | 38 |
| 2 | USA | c.2031-2A>C/c.2031-2A>C | |
| 3 | France | c.1555-1568del14, p.M519PfsX21/c.1907C>T, p.T636M and c.2031-2A>C | 27 |
| 4 | France | c.995C>T, p.A332V/c. 2031-2A>C | 27 |
| 5 | Luxembourg | c.752T>C, p.M251T/c.1705C>T, p.R569W | |
| 6 | USA | c.929T>C, p.M251T/g.8089C>T, pR569W | 39 |
Nomenclature for genotypes is according to den Dunnen and Antonarakis.40 The c.2031-2A>C splice mutation in donors 1-3, and the frameshift deletion in donor 3 consistently generate null alleles, whereas the missense mutations in donors 4-6 allow for residual MPO activity.