Table 2.
Distribution of different G6PD mutation patterns and the corresponding enzyme activities observed from 571 subjects with G6PD deficiency.
| Mutation pattern | Hemi | Enzyme activity | Hetero | Enzyme activity | Homo | Enzyme activity | Total* | Frequency (%) |
|---|---|---|---|---|---|---|---|---|
| c.95 A>G | 49 | 0.81 ± 0.63, 0.02–2.73 | 18 | 6.03 ± 2.15, 0.60–9.17 | 1 | 0.04 | 68(2) | 11.91 |
| c.392 G>T | 20 | 1.85 ± 0.78, 0.76–3.16 | 13 | 5.84 ± 2.08, 1.60–9.32 | 1 | 1.01 | 34 | 5.95 |
| c.493 A>G | 1 | 0.64 | 0 | – | 0 | – | 1 | 0.18 |
| c.517 T>C# | 1 | 1.39 | 0 | – | 0 | – | 1 | 0.18 |
| c.592 C>T | 0 | 0 | 3 | 6.23 ± 1.58, 4.45–7.47 | 0 | – | 3 | 0.52 |
| c.871 G>A | 21 | 0.56 ± 0.53, 0.06–2.17 | 12 | 5.78 ± 2.72, 0.51–9.72 | 1 | 5.54 | 34(34) | 5.95 |
| c.1004 C>A | 1 | 1.58 | 0 | – | 0 | – | 1(1) | 0.18 |
| c.1024 C>T | 14 | 2.58 ± 0.83,1.52–4.16 | 13 | 5.81 ± 1.80, 1.14–7.72 | 0 | – | 27(2) | 4.73 |
| c.1311 C>T | 5 | 2.55 ± 3.22, 0.06–8.30 | 6 | 4.63 ± 2.77, 0.24–7.68 | 0 | – | 11 | 1.93 |
| c.1360 C>T# | 3 | 0.68 ± 0.39, 0.24–0.96 | 4 | 4.93 ± 2.80, 2.13–8.76 | 0 | – | 7(2) | 1.22 |
| c.1376 G>T | 95 | 0.47 ± 0.38, 0.01–2.03 | 52 | 6.11 ± 2.48, 0.42–9.98 | 8 | 0.56 ± 0.53, 0.07–1.38 | 155(3) | 27.14 |
| c.1388 G>A# | 126 | 0.66 ± 0.49, 0.04–2.82 | 42 | 6.58 ± 2.10, 0.00–9.97 | 11 | 1.52 ± 1.01, 0.53–3.41 | 179(5) | 31.35 |
| c.95 A>G/ c.1376 G>T | 0 | – | 6 | 0.47 ± 0.28, 0.11–0.79 | 0 | – | 6 | 1.05 |
| c.95 A>G/ c.1388 G>A | 0 | – | 4 | 1.13 ± 0.23, 0.90–1.40 | 0 | – | 4 | 0.70 |
| c.95 A>G/ c.871 G>A/ c.1311 C > T | 0 | – | 1 | 1.01 | 0 | – | 1 | 0.18 |
| c.392 G>T/c.1376 G>T | 0 | – | 1 | 1.13 | 0 | – | 1 | 0.18 |
| c.392 G>T/c.1388 G>A | 0 | – | 5 | 2.20 ± 1.56, 0.73–4.62 | 0 | – | 5 | 0.88 |
| c.871 G>A / c.1376 G>T/ c.1311 C > T | 0 | – | 2 | 0.36 ± 0.06, 0.32–0.40 | 0 | – | 2 | 0.35 |
| c.871 G>A / c.1388 G>A/ c.1311 C > T | 0 | – | 2 | 1.62 ± 0.63, 1.18–2.07 | 0 | – | 2 | 0.35 |
| c.1024 C>T/c.1376 G>T | 0 | – | 2 | 1.68 ± 1.63, 0.52–2.83 | 0 | – | 2 | 0.35 |
| c.1024 C>T/c.1388 G>A | 0 | – | 1 | 2.39 | 0 | – | 1 | 0.18 |
| c.1360 C>T/c.1388 G>A | 0 | – | 1 | 0.08 | 0 | – | 1 | 0.18 |
| c.1376 G>T/c.1388 G>A | 0 | – | 5 | 0.65 ± 0.52, 0.14–1.36 | 0 | – | 5 | 0.88 |
| Mutation unknown | 11 | 2.91 ± 2.77, 0.12–8.30 | 9 | 6.03 ± 2.15, 0.60–9.17 | 0 | – | 20 | 3.50 |
| Total | 347 | 202 | 22 | 571 | 100.0 |
The abbreviation Hemi, Hetero and Homo represented male hemizygote, female heterozygote and female homozygote, respectively. The enzyme activity was shown as mean ± SD and range. # Results of four male hemizyotes were from sequencing analysis, including c.517 T>C (1), c.1360 C>T (1) and c.1388 G>A (2). * In this column, the number in the bracket represented cases carrying c.1311 C>T polymorphism.