X-Inactivation Patterns in Carriers of DC
| Status . | Total No. . | Pattern of X-Inactivation* . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| . | . | Skewed . | Incompletely Skewed . | Normal . | . | . | . | |||
| . | . | No. . | Identity† . | No. . | Identity† . | No. . | Identity† . | . | . | . |
| X-linked, obligate carrier | 8 | 7 | 001, II:5 and III:2 | 1 | 006, II:4 | 0 | — | |||
| 002, I:2 | ||||||||||
| 005, I:2 and II:3 | ||||||||||
| 006, II:2 | ||||||||||
| 007, II:3 | ||||||||||
| X-linked, predicted carrier | 8 | 7 | 001, III:5 | 1 | 005, III:3 | 0 | — | |||
| 002, II:6 and II:11 | ||||||||||
| 006, III:3 | ||||||||||
| 007, II:7, III:4, and III:7 | ||||||||||
| Sporadic, mother of index case | 4 | 2 | 004, I:1 | 1 | 015, I:1 | 1 | 020, I:1 | |||
| 008, I:1 | ||||||||||
| Sporadic, daughter of index case | 1 | 0 | — | 0 | — | 1 | 019, II:1 | |||
| Sporadic, predicted carrier | 1 | 1 | 015, II:1 | 0 | — | 0 | — | |||
| Familial, mother of index case | 1 | 0 | — | 0 | — | 1 | 024, I:1 | |||
| Uncertain pattern of inheritance | 2 | 0 | — | 0 | — | 2 | 009, II:1 and II:12 | |||
| Status . | Total No. . | Pattern of X-Inactivation* . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| . | . | Skewed . | Incompletely Skewed . | Normal . | . | . | . | |||
| . | . | No. . | Identity† . | No. . | Identity† . | No. . | Identity† . | . | . | . |
| X-linked, obligate carrier | 8 | 7 | 001, II:5 and III:2 | 1 | 006, II:4 | 0 | — | |||
| 002, I:2 | ||||||||||
| 005, I:2 and II:3 | ||||||||||
| 006, II:2 | ||||||||||
| 007, II:3 | ||||||||||
| X-linked, predicted carrier | 8 | 7 | 001, III:5 | 1 | 005, III:3 | 0 | — | |||
| 002, II:6 and II:11 | ||||||||||
| 006, III:3 | ||||||||||
| 007, II:7, III:4, and III:7 | ||||||||||
| Sporadic, mother of index case | 4 | 2 | 004, I:1 | 1 | 015, I:1 | 1 | 020, I:1 | |||
| 008, I:1 | ||||||||||
| Sporadic, daughter of index case | 1 | 0 | — | 0 | — | 1 | 019, II:1 | |||
| Sporadic, predicted carrier | 1 | 1 | 015, II:1 | 0 | — | 0 | — | |||
| Familial, mother of index case | 1 | 0 | — | 0 | — | 1 | 024, I:1 | |||
| Uncertain pattern of inheritance | 2 | 0 | — | 0 | — | 2 | 009, II:1 and II:12 | |||
X-inactivation patterns were scored as skewed when, after Hpa II digestion, only one allele of the HUMARA gene from an informative female was visible or when one allele represented less than 2% of the total signal. The pattern was scored as incompletely skewed when the faint allele represented 2% to 10% of the total signal.
The identity of each female is given by family number and position as shown in Fig 1.