Extensive Analysis Can Discriminate Pathogenic Mutations From PCR Artifacts
| . | M13 Clones Analyzed . | No. of M13 Clones Without Any Point Mutation . | No. of M13 Clones Each Having a Single Different Point Mutation . | No. of M13 Clones With Identical Mutation . | No. of M13 Clones With Identical Mutation Plus Other Point Mutation . |
|---|---|---|---|---|---|
| BM slides (nested PCR) | |||||
| 1-MSK13* (1973) | 36 | 6 | 7 | 1† | 4‡ |
| 82-153 | 52-155 | ||||
| 3¶ | 2# | ||||
| 2-Non-PNH (1973) | 24 | 6 | 17 | 0 | 12-160 |
| 3-MSK11 (1995) | 12 | 0 | 0 | 72-164 | 52-161 |
| PMN | |||||
| 4-MSK11 (primary PCR) | 12 | 0 | 1 | 72-164 | 42-161 |
| 5-MSK11 (nested PCR) | 10 | 1 | 0 | 42-161 | 52-161 |
| 6-Normal control | 12 | 6 | 6 | 0 | 0 |
| . | M13 Clones Analyzed . | No. of M13 Clones Without Any Point Mutation . | No. of M13 Clones Each Having a Single Different Point Mutation . | No. of M13 Clones With Identical Mutation . | No. of M13 Clones With Identical Mutation Plus Other Point Mutation . |
|---|---|---|---|---|---|
| BM slides (nested PCR) | |||||
| 1-MSK13* (1973) | 36 | 6 | 7 | 1† | 4‡ |
| 82-153 | 52-155 | ||||
| 3¶ | 2# | ||||
| 2-Non-PNH (1973) | 24 | 6 | 17 | 0 | 12-160 |
| 3-MSK11 (1995) | 12 | 0 | 0 | 72-164 | 52-161 |
| PMN | |||||
| 4-MSK11 (primary PCR) | 12 | 0 | 1 | 72-164 | 42-161 |
| 5-MSK11 (nested PCR) | 10 | 1 | 0 | 42-161 | 52-161 |
| 6-Normal control | 12 | 6 | 6 | 0 | 0 |
*In the pretransplant sample of MSK13, three point mutations (16 G → T, 211 A → G, and 211 A → G + 251 C → T) are regarded as responsible for PNH.
This M13 clone had the 16 G → T substitution.
Each one of these clones had the 16 G → T substitution (†) plus another point mutation, different in each clone.
Each one of these clones had the 211 A → G substitution.
Each one of these clones had the 211 A → G substitution (§) plus another point mutation, different in each clone.
¶Each one of these clones had both mutations 211 A → G and 251 C → T.
#Each one of these clones had the “211 A → G and 251 C → T” (¶) plus another point mutation, different in each clone.
This M13 clone had two mutations: 101 A → G and 417 T → C. Each one of these was also present in two additional M13 clones together with another point mutation.
Each one of these clones had the mutation 259 del C, which we therefore regarded as responsible for PNH in patient MSK11.
Each one of these clones had the 259 del C mutation (†) plus another point mutation, different in each clone.