Table 1

Results of testing for the mutation in different tissue samples from the mosaic subject, showing the percentage mutant DNA detected in 10 repeat tests on each sample, with their mean and standard deviation

Germ layerSample% mutant DNA observedMean (%)2 SD
Ectoderm Buccal (left)18, 20, 20, 20, 21, 21, 22, 22, 23, 2421.117.60 - 24.56
Buccal (right)21, 23, 23, 23, 23, 24, 24, 24, 25, 2623.6020.90 - 26.30
Skin (epidermis)28, 28, 29, 29, 29, 30, 30, 31, 31, 3129.6027.25 - 31.95
Skin (dermis)
MesodermBlood22, 23, 24, 25, 25, 25, 25, 26, 27, 2825.0021.47 - 26.53
GametesTwo affected sons, 50%?
EndodermUrine16, 17, 17, 18, 21, 24, 25, 26, 27, 2721.8012.80 - 30.76