Table 2.
X-inactivation pattern in affected females and family members
| Family, mutation type | Affected females (n = 9) Inactivation mutant X:normal X |
Unaffected carriers (n = 15) Inactivation mutant X:normal X |
Non-carriers (n = 4) Activity of X1:X2 |
|---|---|---|---|
| F1, splicing intron 8 | 24:76% (3426-85F) | 2 people: | 3 people: 95:5% (M85-3427F); |
| 100:0% (79185F); | 70:30%.(3494-85F); | ||
| 98:2% (78985F)a | 70:30% (D92-5215T) | ||
| F2, unknown | 0:100% (D92-6267F) | ||
| (based on Real time RT-PCR results)b | |||
| F3, exon 6del | Inconclusive (D00-43654F) | 1 person: 90:10% (5974B) | |
| F4, exon 6_9del | 80:20%; 78:22% (D91-3753T; D67859F) | 6 people: 98:2% (AM280F);100:0%(1161T); | 1 person: 100:0% (67807F) |
| 100:0% (67803F); 100:0% (67802F); | |||
| 73:27% (44505T); 96:4% (41569B) | |||
| F5, splicing intron 21 | 51:49% (33744B) | 1 person:78:22% (39012B)c | |
| F6, missense exon 10 | 4:96% (59135F) | ||
| F7, nonsense exon 10 | 0:100% (D92-5810T) | 2 people: | |
| 92:8%;100:0% (D91-1195T; D95-24179F); | |||
| 100:0% (D92-5613T) | |||
| F8, exon 1del | Inconclusive (D92-7418F) | 1 person:100:0% (D94-1503F)d | |
| F9, nonsense exon 3 | 100:0%(23508F) | 2 people: | |
| 100:0% (23509F)e; | |||
| 74:26%(41882F) | |||
DNA extracted from B: blood sample; T: transformed lymphocytes; F: cultured fibroblasts.
aSister F1-S1. bThe mother of F2 showed also highly skewed X-inactivation pattern, but with the opposite X chromosome active.
cMother of F5. dSister F8-S1.eSister F9-S1.