P53 gene mutations detected by DGGE and sequencing
Patient no. . | del(17)(p13.1) (%) . | Exon . | Sequence alteration . |
|---|---|---|---|
| 1 | Yes (77.0) | 5, 8 | TGC>TTT, Cys>Phe, bp 13206-7 + CGT>CAT, Arg>His, bp 14487 |
| 2 | Yes (51.5) | 6 | CTT>CGT, Leu>Arg, bp 13341 |
| 3 | Yes (85.5) | 6 | CGA>CAA, Arg>Gln, bp 13398 |
| 4 | Yes (80.5) | 7 | GGC>AGC, Gly>Ser, bp 14057 |
| 5 | Yes (61.0) | 7 | AGG>AGT, Arg>Ser, bp 14110; at splice site |
| 6 | Yes (14.5) | 7 | AGG>AAA, Glu>Lys, bp 14099 |
| 7 | No | 7 | CGG>TGG, Arg>Trp, bp 14069 |
| 8 | Yes (97.0) | 7 | GGC>AGC, Gly>Ser, bp 14060 |
| 9 | No | 7 | ATG>GTG, Met>Val, bp 14063 |
| 10 | Yes (91.0) | 8 | 26 bp deletion; splice site deleted |
| 11 | No | 8 | GAG>TAG, Glu>Stop, bp 14522 |
Patient no. . | del(17)(p13.1) (%) . | Exon . | Sequence alteration . |
|---|---|---|---|
| 1 | Yes (77.0) | 5, 8 | TGC>TTT, Cys>Phe, bp 13206-7 + CGT>CAT, Arg>His, bp 14487 |
| 2 | Yes (51.5) | 6 | CTT>CGT, Leu>Arg, bp 13341 |
| 3 | Yes (85.5) | 6 | CGA>CAA, Arg>Gln, bp 13398 |
| 4 | Yes (80.5) | 7 | GGC>AGC, Gly>Ser, bp 14057 |
| 5 | Yes (61.0) | 7 | AGG>AGT, Arg>Ser, bp 14110; at splice site |
| 6 | Yes (14.5) | 7 | AGG>AAA, Glu>Lys, bp 14099 |
| 7 | No | 7 | CGG>TGG, Arg>Trp, bp 14069 |
| 8 | Yes (97.0) | 7 | GGC>AGC, Gly>Ser, bp 14060 |
| 9 | No | 7 | ATG>GTG, Met>Val, bp 14063 |
| 10 | Yes (91.0) | 8 | 26 bp deletion; splice site deleted |
| 11 | No | 8 | GAG>TAG, Glu>Stop, bp 14522 |
DGGE indicates denaturing gradient gel electrophoresis.