Table 2.
SC assay for APC mutations in six FAP families
| Family | Individual | APC fragment: Codons: PCR template: | SC assay, % Ura+ colonies
|
||||
|---|---|---|---|---|---|---|---|
| b 654–1748 gDNA | c 654–1184 gDNA | d 1185–1748 gDNA | Mutation
|
||||
| Sequence | Location | ||||||
| A | II-1 | 100 | 92 | ND | WT | ||
| II-2 | 38 | 48 | 92 | 4-bp deletion (frameshift) | Codon 929–930 (Exon 15) | ||
| II-3 | 56 | 48 | ND | 4-bp deletion (frameshift) | Codon 929–930 (Exon 15) | ||
| B | I-1 | 50 | 44 | 100 | T insertion (frameshift) | Codon 938 (Exon 15) | |
| II-1 | 96 | 92 | ND | WT | |||
| II-2 | 88 | 100 | ND | WT | |||
| C | I-1 | ND | ND | 100 | WT | ||
| I-2 | ND | ND | 100 | WT | |||
| I-3 | ND | ND | 96 | WT | |||
| I-7 | 40 | 92 | 56 | 2-bp deletion (frameshift) | Codon 1249–1250 (Exon 15) | ||
| I-8 | ND | ND | 92 | WT | |||
| II-1 | ND | ND | 40 | 2-bp deletion (frameshift) | Codon 1249–1250 (Exon 15) | ||
| II-2 | ND | ND | 48 | 2-bp deletion (frameshift) | Codon 1249–1250 (Exon 15) | ||
| II-3 | ND | ND | 52 | 2-bp deletion (frameshift) | Codon 1249–1250 (Exon 15) | ||
| D | I-1 | 60 | 92 | 56 | 5-bp deletion (frameshift) | Codon 1309–1311 (Exon 15) | |
| II-1 | ND | ND | 92 | WT | |||
| II-2 | ND | ND | 96 | WT | |||
| II-3 | ND | ND | 88 | WT | |||
| E | I-1 | 44 | 96 | 48 | 5-bp deletion (frameshift) | Codon 1309–1311 (Exon 15) | |
| II-1 | ND | ND | 92 | WT | |||
| II-2 | ND | ND | 48 | 5-bp deletion (frameshift) | Codon 1309–1311 (Exon 15) | ||
| II-3 | ND | ND | 92 | WT | |||
| F | I-1 | 57 | 92 | 48 | A deletion (frameshift) | Codon 1322 (Exon 15) | |
| II-1 | ND | ND | 92 | WT | |||
All individuals in the six FAP families are Japanese. Location of APC fragment is indicated in Fig. 1b. A boldface number indicates existence of truncating mutation in examined DNA fragment by SC assay. gDNA, genomic DNA; ND, not determined; WT, wild-type in the examined coding sequence.