Frequency of Mutations Found Only in FXII-Deficient Patients and Not in 74 Controls
| Mutation . | Ratio . | Percentage . | Genebank Acc. . | Remarks . |
|---|---|---|---|---|
| Taq I-A: (associated with exon 1:−8(g → c) | 38/57 | 66.6% | X80393 | CRM-negative |
| Taq I-B: [associated with exon 12:10590 (DelC)] | 2/57 | 3.6% | U71278 | CRM-negative |
| Taq I-C: (unknown association) | 1/57 | 1.75% | — | CRM-negative |
| Exon 14:11397(G → A) (splice site mutation) | 8/57 | 14% | L43615 | CRM-negative |
| Exon 10:L395M (9988 C → A) | 1/57 | 1.75% | U71277 | CRM-negative |
| Exon 10:R398Q (9998 G → A) | 1/57 | 1.75% | U71276 | CRM-negative |
| Exon 11:D442N (10372 G → A) | 1/57 | 1.75% | U71275 | CRM-positive |
| Exon 14:G570R (11482 G → C) | 1/57 | 1.75% | U71274 | CRM-positive |
| Total | 53/57 | 93% |
| Mutation . | Ratio . | Percentage . | Genebank Acc. . | Remarks . |
|---|---|---|---|---|
| Taq I-A: (associated with exon 1:−8(g → c) | 38/57 | 66.6% | X80393 | CRM-negative |
| Taq I-B: [associated with exon 12:10590 (DelC)] | 2/57 | 3.6% | U71278 | CRM-negative |
| Taq I-C: (unknown association) | 1/57 | 1.75% | — | CRM-negative |
| Exon 14:11397(G → A) (splice site mutation) | 8/57 | 14% | L43615 | CRM-negative |
| Exon 10:L395M (9988 C → A) | 1/57 | 1.75% | U71277 | CRM-negative |
| Exon 10:R398Q (9998 G → A) | 1/57 | 1.75% | U71276 | CRM-negative |
| Exon 11:D442N (10372 G → A) | 1/57 | 1.75% | U71275 | CRM-positive |
| Exon 14:G570R (11482 G → C) | 1/57 | 1.75% | U71274 | CRM-positive |
| Total | 53/57 | 93% |
A total number of 57 mutated FXII chromosomes from 31 patients (26 cases of severe deficiency and 5 with intermediate deficiency) was expected.