Haplotype frequency by mutation type and MLH1 mutation type frequencies by haplotype
| Mutation type | Total | A haplotype (%) | G haplotype (%) | p value |
|---|---|---|---|---|
| *FET: each comparison with insertions as the base line. | ||||
| †Total χ2=8.72, p=0.013. | ||||
| The frequency of G haplotypes also varies according to the type of deletion: 1 nucleotide (nt) deletions: 7A, 3G; >1 nt deletions, 6A, 21G, p=0.017. All 1 bp insertions or deletions compared with >1 bp insertions/deletions: 14A, 4G; 9A, 22G, p=0.0013 (FET). | ||||
| (A) Haplotype frequency by mutation type | ||||
| Insertions | 12 | 10 (83.3) | 2 (16.7) | – |
| Deletions | 37 | 13 (35.1) | 24 (64.9) | 0.006* |
| Substitutions | 70 | 30 (42.9) | 40 (57.1) | 0.012* |
| Total | 119 | 53 (44.5) | 66 (55.5) | 0.013† |
| (B) MLH1 mutation type frequencies by haplotype | ||||
| Deletion | ||||
| 1 nucleotide | 10 | 7 | 3 | |
| 2 nucleotides | 1 | 0 | 1 | |
| 3 nucleotides | 12 | 3 | 9 | |
| 4 nucleotides | 3 | 1 | 2 | |
| 5 nucleotides | 1 | 1 | 0 | |
| 7 nucleotides | 1 | 0 | 1 | |
| 15 nucleotides | 1 | 1 | 0 | |
| Exon or greater | 8 | 0 | 8 | |
| Total deletions | 37 | 13 (35.1) | 24 (64.9) | |
| Insertion | ||||
| 1 nucleotide | 8 | 7 | 1 | |
| 2 nucleotide | 1 | 1 | 0 | |
| 4 nucleotide | 3 | 2 | 1 | |
| Total insertions | 12 | 10 (83.3) | 2 (16.7) | |
| Base substitution | 70 | 30 (42.9) | 40 (57.1) | |
| Total | 119 | 53 (44.5) | 66 (55.5) | |