Table 1
Results of MYH sequencing in North American populations
| Genotype | FAP negative samples (n = 219)* | HNPCC negative samples (n = 306)** | |
|---|---|---|---|
| First mutation | Second mutation | ||
| All specimens were negative for whole gene clinical sequencing of APC for FAP specimens and hMLH1 and hMSH2 for HNPCC specimens. Mutations in bold were detected by whole gene sequencing of MYH. A dash (–) accompanies heterozygous carriers in the “second mutation” column. | |||
| *All heterozygotes after testing for Y165C and G382D and 187 samples without mutations received full sequence testing. | |||
| **All heterozygotes after testing for Y165C and G382D and 50 randomly selected samples without mutations received full sequence testing. | |||
| Y165C | Y165C | 4 | 1 |
| G382D | G382D | 2 | … |
| Y165C | G382D | 7 | 2 |
| Y165C | 891+3 A→C | 1 | … |
| Y165C | 1103delC | 1 | … |
| Y165C | IVS13+25del30 | 1 | … |
| Y165C | Q300X | 1 | … |
| Y165C | 1395delGGA | 1 | … |
| G382D | 1395delGGA | 1 | … |
| G382D | 891+3 A→C | 1 | 1 |
| G382D | E182X | 1 | … |
| G382D | 1103delC | 1 | … |
| E466X | E466X | 1 | … |
| 1395delGGA | 1395delGGA | 1 | … |
| Y165C | – | 4 | 3 |
| G382D | – | 2 | 6 |
| 1103delC | – | 1 | 1 |
| IVS12–2 A→G | – | 1 | … |
