Table 2 VHL mutation and deletion results obtained by DNA sequencing, quantitative PCR (Q-PCR) and SB for 17 selected patients
From: Rapid detection of VHL exon deletions using real-time quantitative PCR
Patient | DNA sequencing | Q-PCR | SB |
|---|---|---|---|
1 | Met54Ile (exon 1) | Normal | Normal |
2 | 778delG (exon 3) | Normal | Normal |
3 | Normal | del exon 1 | del exon 1 |
4 | Normal | del exon 1 | del exon 1 |
5 | Normal | del exon 1 | del exon 1 |
6 | Normal | del exon 1 | del exon 1 |
7 | Normal | del exon 1 | del exon 1 |
8 | Normal | del exon 2 | del exon 2 |
9 | Normal | del exon 2 | del exon 2 |
10 | Normal | del exon 3 | del exon 3 |
11 | Normal | del exons 1–2 | del exons 1–2 |
12 | Normal | del exons 1–2 | del exons 1–2 |
13 | Normal | del exons 1–3 | del exons 1–3 |
14 | Normal | del exon 3 | deletion |
15 | Normal | del exons 2–3 | del exons 2–3 |
16 | Normal | del exons 1–3 | del exons 1–3 |
17 | Normal | Normal | Normal |
