Figure 3

Exploration of the somatic mosaicism in the Mother. (A) Results of NcoI digestion of FA2H PCR products from DNA extracted from lymphocytes and buccal cells. A NcoI site is created by the R113W mutation in exon 2. In both types of tissue tested, we found a lack of digestion in the father, partial digestion in both affected children and a low level of partial digestion in the mother. (B) Percentage of clones carrying the wild type (allele C, blue bar) and mutant alleles (allele T, red bar) as determined by cloning PCR products amplified from blood DNA of the clinically affected patient and his unaffected mother (Family 3).