Table 3.

Mutated Sequences in Sample DNA

No. Mutation Position[i] No. Mutation Position[i]
gyrA hFIX exon 7
 1T → G2501T → C30046
 2C → T2512G → A30070
 3G → C2533T → G30117
 4G → A2624T → C30134
 5G → C2625AC deletion30141
 6A → C263
 7A → G263
 8A → T263hFIX exon 8
 9TC → AT250
10TC → AA2501C → T30875
11TC → AG2502C → A30973
12TC → CT2503C → A31096
13CA → TG2514G → A31119
14CA → TT2515G → T31211
15CA → AT2516[ii] A → G30972
16CA → TC251C → T31328
17CA → AC251
18GA → AT262
19GA → TT262
20AA → TT263
21TTC → CTT249
22TCA → GGT250
23GAA → ACT262

[i] Nucleotide number starting from the first nucleotide of the coding sequence of gyrA (Munakata et al. 1994) or proposed transcription initiation site of hFIX (Yoshitake et al. 1985).

[ii] This sample carried a double mutation, at positions 30972 and 31328.