Table 1.
Mutations Observed in the Familial Studies
| Region, Reference(No. of Transmissions),and Position | Mutation | Ref.Allelea | EuropeanFrequency(%) |
| HVIb: | |||
| Parsons et al. 1997 (327): | |||
| 16092 | C→T | T | 99.1 |
| 16093 | T→C | T | 94.4 |
| 16256 | T→C | T | 94.4 |
| Sigurdardottir et al. 2000 (705): | |||
| 16093 | T→C | T | 94.4 |
| 16111 | G→A | C | 99.5 |
| Present study (508): | |||
| 16298 | C→T | T | 96.5 |
| 16311 | T→C | T | 87.0 |
| Soodyall et al. 1997 (108) | None | … | … |
| Howell et al. 1996 (81) | None | … | … |
| HVIIc: | |||
| Parsons et al. 1997 (327): | |||
| 94 | G→A | G | 99.8 |
| 185 | G→A | G | 94.6 |
| 189 | A→G | A | 97.7 |
| 207 | G→A | G | 97.3 |
| 207 | A→G | G | 97.3 |
| 234 | A→G | A | 99.8 |
| Present study (508): | |||
| 146 | T→C | T | 93.1 |
| 195 | T→C | T | 82.3 |
| Howell et al. 1996 (81): | |||
| 152 | T→C | T | 83.8 |
| 195 | T→C | T | 82.3 |
| Sigurdardottir et al. 2000 (705): | |||
| 153 | A→G | A | 95.4 |
| Soodyall et al. 1997 (108) | None | … | … |
| Jazin et al. 1998 (229) | None | … | … |
a
Allele as in the reference sequence (Anderson et al. 1981).
b
1,729 total transmissions; 7 total substitutions.
c
1,956 total transmissions; 11 total substitutions.