Table 3 G6PD Activity, Mutations and Polymorphism Identified in Case and Control Groups
From: G6PD genetic variations in neonatal Hyperbilirubinemia in Indonesian Deutromalay population
No. | Case (N = 6) | No. | Control (N = 9) | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ID | F/M | G6PD Mutation | Genotype | G6PD Polymor-phism | G6PD Activity (U/g Hb) | G6PD Activity (%) | ID | F/M | G6PD Mutation | Genotype | G6PD Polymor-phism | G6PD Activity (U/g Hb) | G6PD Activity (%) | ||
1. | 21 | F | p.V291 M | G/A | + | 7.88 | 60.16 | 1. | 202 | M | – | – | – | 0.24 | 1.84 |
2. | 55 | M | p.R459L | T/− (hem) | – | 0.45 | 3.43 | 2. | 175 | M | p.V291 M | A/− (hem) | + | 0.97 | 7.43 |
3. | 80 | F | p.V291 M | T/C | + | 0.34 | 2.63 | 3. | 19 | F | p.V291 M | G/A | + | 5.21 | 39.77 |
p.L128P | G/A | 4. | 230 | F | p.L128P | T/C | – | 7.56 | 57.71 | ||||||
4. | 229 | M | p.R463H | A/− (hem) | – | 10.65 | 81.29 | 5. | 88 | M | p.R459L | T/− (hem) | + | 15.74 | 120.15 |
5. | 101 | M | p.V291 M | A/− (hem) | + | 12.92 | 98.59 | 6. | 181 | M | p.L474 = # | A/− (hem) | + | 13.71 | 104.66 |
6. | 162 | M | p.V369A# p.I167F# | C/− (hem) T/− (hem) | – | 32.51 | 248.16 | 7. | 184 | M | p.I36T# | C/− (hem) | – | 15.47 | 118.06 |
8. | 203 | M | p.A335T | A/− (hem) | – | 15.35 | 117.18 | ||||||||
9. | 209 | M | p.V291 M | A/− (hem) | + | 12.91 | 98.54 | ||||||||