Table 1 Deep sequencing of the family members in mosaic DMD cases
Sample Name | Mutant sites | |||||
|---|---|---|---|---|---|---|
ChrX-31,947,831 (c.6794delG) | ChrX-31,947,829 (c.6796delA) | |||||
Depth | Frequency (%) | Result | Depth | Frequency (%) | Result | |
Proband | 522/568 | 91.90 | Hemi | 2/569 | 0.0 | Non-carrier |
Mother carrier (Pregnancy) | 164/463 | 35.32 | Het | 18/465 | 3.87 | Low level mosaicism |
Amniotic Fluid | 26/1435 | 0.0 | Non-carrier | 656/1446 | 45.36 | Het |
Mother carrier (Non-pregnancy) | 517/1229 | 42.07 | Het | 65/1224 | 5.31 | Low level mosaicism |