Table 2.
Disease/Locus (Mutation) | Generations | Reference |
LSDs: | ||
GD (1226) | 48 | Diaz et al. 2000 |
MLIV (IVS3) | 57 | Slaugenhaupt et al. 1999 |
GD (84GG) | 55 | Diaz et al. 2000 |
Other diseases: | ||
F11 (type III) | 31 | Goldstein et al. 1999 |
F11 (type II) | 120 | Goldstein et al. 2000 |
DYS (IVS20) | 52 | Blumenfeld et al. 1993 |
BLM (2281) | 50 | Ellis et al. 1998 |
BRCA1a (185delAG) | 46 | Neuhausen et al. 1996 |
BRCA2a (6174delT) | 29 | Neuhausen et al. 1996 |
FHa (G197del) | 12 | Durst et al. 2001 |
DYT1 (delGAG) | 12 | Risch et al. 1995 |
Autosomal dominant mutations; all others are autosomal recessive.