Table 2 Variant frequencies of GBA-PD samples based on three different primer sets unique for the functional GBA1 gene and two different polymerase enzymes.
From: False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance
Sample | Variant | TaKaRa | Q5 | ||||
|---|---|---|---|---|---|---|---|
Primer 1 | Primer 3 | Primer4 | Primer 1 | Primer 3 | Primer4 | ||
1 | E326K | Low yield* | 99.9 | 99.8 | 100 | 100 | 100 |
2 | E326K | 99.8 | 99.9 | 99.8 | 99.9 | 100 | 100 |
3 | E326K | 51.2 | 53.2 | 51.7 | 47.7 | 48.3 | 50.4 |
4 | E326K | 48.6 | 50.4 | 50.5 | 47.5 | 49.4 | 51.4 |
5 | E326K | 48.1 | 47.6 | 47.1 | 33.4 | 32.3 | 31 |
6 | T369M; L324P | 50.7; 47.1 | 48.1; 50.3 | 50.7; 47.8 | 50; 47.7 | 49.5; 49 | 50.8; 48 |
7 | T369M | 48.7 | 50.8 | 49.7 | 63.3 | 64.5 | 68.3 |
8 | L444P | 44.4 | 42.4 | 43.9 | 27.8 | 28.3 | 23.6 |
9 | E326K | 48.4 | 49.8 | 48.4 | 34.2 | Low yield* | 29.8 |
10 | E326K | 49 | 47 | 48.7 | 27 | 28.6 | 23.6 |
11 | E326K | 48.5 | 48.3 | 49.9 | 24.8 | 23 | 18.8 |
12 | N370S | 49.5 | 53.1 | 53.7 | 51.5 | 53.5 | 52.9 |
