SSCP/HA analysis and LOH studies on lymphocyte and tumour samples from 30 young patients with a unilateral vestibular schwannoma
| SSCP/HA | LOH analysis | ||||||
|---|---|---|---|---|---|---|---|
| Case | Tissue | Mutation | Class | D22S275 | NF2CA3 | D22S268 | D22S280 |
| Tissue: L = lymphocyte DNA, T = tumour DNA. | |||||||
| SSCP/HA: F = frameshift, SP = splice site, N = nonsense, M = missense, IF = in frame deletion, SY = synonymous codon substitution, – = no mutation, * = insufficient material for complete analysis. | |||||||
| LOH analysis: LOH = loss of heterozygosity, U = uninformative, N = no loss of heterozygosity, NR = no result, – = not tested. | |||||||
| 1 | L | -ve | – | ||||
| T | 1080ΔG | F | LOH | LOH | LOH | – | |
| 2 | L | 465C>T | SY | ||||
| T | Δ757-795 (ΔLys253>Ser265) | IF | – | LOH | – | LOH | |
| 3 | L | -ve | – | ||||
| T | 1443C>G (Tyr481>Stop) | N | LOH | U | LOH | – | |
| 4 | L | -ve | – | ||||
| T | 459C>A (Tyr153>Stop) | N | – | LOH | – | N | |
| 5 | L | -ve | – | ||||
| T | 448-1g>t | SP | – | LOH | – | – | |
| 6 | L | -ve | – | ||||
| T | 1228C>T (Gln433>Stop) | N | U | U | N | – | |
| 7 | L | -ve | – | ||||
| T | 970C>T (Gln324>Stop) | N | LOH | U | LOH | – | |
| 8 | L | -ve | – | ||||
| T | -ve | – | LOH | U | LOH | – | |
| 9 | L | Δ332-334 (ΔGlu112) | IF | ||||
| T | 459C>G (Tyr153>Stop) | N | LOH | U | LOH | – | |
| 10 | L | -ve | – | ||||
| T1 | 169C>T (Arg57>Stop) | N | LOH | U | U | – | |
| 655G>A (Val219>Met) | M | ||||||
| 1600ΔC | F | ||||||
| T2 | 655G>A (Val219>Met) | M | N | U | U | – | |
| 11 | L | -ve | – | ||||
| T | 1514ΔTG | F | – | LOH | – | – | |
| 12 | L | -ve | – | ||||
| T | 479ΔG | F | LOH | U | LOH | – | |
| 13 | L | -ve | – | ||||
| T | Δ171-216 | F | NR | N | N | – | |
| 14 | L | -ve | – | ||||
| T | -ve for 16/17 exons* | – | – | LOH | – | – | |
| 15 | L | -ve | – | ||||
| T | 1513ΔCTGT | F | LOH | U | U | – | |
| 16 | L | -ve | – | ||||
| T | 169C>T (Arg57>Stop) | N | – | LOH | – | – | |
| 17 | L | -ve | – | ||||
| T | -ve | – | – | LOH | – | – | |
| 18 | L | -ve | – | ||||
| T | -ve for 5/17 exons* | – | – | – | – | – | |
| 19 | L | -ve | – | ||||
| T | insufficient material | – | – | – | – | – | |
| 20 | L | -ve | – | ||||
| T | 1621ΔG | F | – | LOH | – | – | |
| 21 | L | -ve | – | ||||
| T | nt 1366 C>T (Glyn 456>stop) | – | – | LOH | – | – | |
| 22 | L | -ve | – | ||||
| T | 447+2t>c | SP | N | U | U | – | |
| 23 | L | -ve | – | ||||
| T | 653ΔG | F | – | LOH | – | – | |
| 24 | L | -ve | – | ||||
| T | 54insA | F | – | LOH | – | – | |
| 25 | L | -ve | – | ||||
| T | -ve | – | – | LOH | – | – | |
| 26 | L | -ve | – | ||||
| T | 737ΔC | F | – | N | – | – | |
| nt 810 g>a | SP | ||||||
| 27 | L | -ve | – | ||||
| T | -ve | – | – | N | – | – | |
| 28 | L | -ve | – | ||||
| T | -ve | – | – | N | – | – | |
| 29 | L | -ve | – | ||||
| T | 265insG | F | – | LOH | – | – | |
| 30 | L | -ve | – | ||||
| T | -ve | – | U | U | U | – | |