Gene/Exon | Mutation Description | Fragment Size (bp) | Predicted Temperature | Actual Temperature Detected | Detected by DGGE/DHPLC |
---|---|---|---|---|---|
hMLH1 | |||||
1 | G to A (116) splice site | 200 | 62 | 60 | y/y |
1 | A to G (1) | 200 | 62 | 60 | y/y |
1 | A to G (112) | 200 | 62 | 60 | y/y |
4 | C to T (350) | 191 | 54,59 | 59 | y/y |
4 | G to A (+1) | 191 | 54,59 | 54 | y/y |
6 | C to T (+51) | 230 | 56 | 56 | y/y |
7 | T to G (554) | 205 | 55 | 58 | y/y |
8 | A to G (655) | 149 | 48,53,55,58 | 58 | y/y |
9 | A to G (790) splice site | 181 | 56 | 58 | y/y |
10 | G to A (884) | 213 | 58 | 58 | n/y |
13 | G to A (+13) | 209 | 59 | 57,58,59 | y/y |
13 | G to T (1535) | 209 | 59 | 58,59 | y/y |
15 | G to A (1731) splice site | 210 | 49,54 | 54 | y/y |
16 | AA to GC (1852-3) | 259 | 55,60 | 55,60 | y/y |
17 | G to T (1959) | 178 | 59 | 58,59 | y/y |
17 | G to A (1989) splice site | 178 | 59 | 57,58,59 | y/y |
19 | A to G (2253) | 266 | 59 | 56,57 | y/y |
19 | G to A (2147) | 266 | 59 | 58,59 | y/y |
hMSH2 | |||||
1 | C of G (+8) | 300 | 60 | 64/67 | y/y |
2 | G to A (304) | 244 | 53,54 | 54 | n/y |
3 | C to T (547) | 359 | 48/53/58 | 58 | n/y |
3 | A to T (488) | 359 | 48/53/58 | 58 | y/y |
6 | C to T (1009) | 240 | 57 | 57 | y/y |
6 | G to A (965) | 240 | 57 | 57 | y/y |
7 | A to T (+2) | 326 | 51/56 | 51 | n/y |
7 | C to T (+7) | 326 | 51/56 | 51 | n/y |
7 | C to T (1216) | 326 | 51/56 | 57 | n/y |
7 | A to T (-2) | 326 | 51/56 | 51 | n/y |
9 | G to C (-1) | 183 | 55 | 55 | y/y |
10 | A to G (+12) | 249 | 50,55 | 50,52,53,55 | y/y |
10 | C to A (1632) | 249 | 50,55 | 50,52,53 | y/y |
11 | T to C (1669) | 198 | 2 | 52,53 | y/y |
11 | A to g (1690) | 198 | 55 | 55 | y/y |
12 | G to C (1968) | 319 | 52,57 | 56,57 | y/y |
13 | A to G (2157) | 284 | 54,59 | 54,56 | y/y |
13 | T to C (+6) | 284 | 54,59 | 54,56 | y/y |
Deletions | |||||
hMLH1 | |||||
1 | 1 bp (9) | 200 | 62 | 62 | y/y |
3 | 4 bp (+2, 208-9) | 181 | 55 | 55 | y/y |
7 | 1 bp (588) | 205 | 55 | 55 | y/y |
8 | 1 bp (672) | 149 | 48,53,58 | 55 | y/y |
13 | 5 bp (1460-1464) | 209 | 59 | 50,54,58,59 | y/y |
16 | 3 bp (1846-48) | 259 | 55,60 | 53 | y/y |
17 | 2 bp (1986-1987) | 178 | 59 | 57,58,59 | y/y |
19 | 1 bp (2114) | 266 | 59 | 56 | y/y |
hMSH2 | |||||
1 | 1 bp (163) | 300 | 60 | 64,66,67 | n/y |
7 | 1 bp (1260) | 326 | 51/56 | 57 | n/y |
9 | 1 bp (1408) | 183 | 55 | 50,53,55 | y/y |
15 | 7 bp (2502-2508) | 266 | 58 | 50,52,56 | y/y |
Insertions | |||||
hMLH1 | |||||
12 | 4 bp (1164) | 410 | 55,60 | 50,55,60 | y/y |
Inversions | |||||
hMSH2 | |||||
8 | 23 bp (1338-1361) | 212 | 53 | 53,50 | y/y |