Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings
J. Clin. Invest. Taizo Wada, et al. 111:1389 doi:10.1172/JCI15485 [Go to this article.]

Figure 4
Genotypic analysis of the Δ19bp second-site mutation. (a) GeneScan analysis of WASP exon 10 DNA sequence amplified from purified lymphocytic and myeloid cells of patient II-1. A peak of the size of approximately 207 nucleotides representing the insG mutation is evident in all cell types. A second peak of approximately 190 nucleotides generated by the Δ19bp mutation is present in the samples amplified from PBMCs and purified CD3⁺ T lymphocytes. (b) Analysis of the WASP exon 10 DNA from WAS carrier subject I-1 showed the presence of two overlapping peaks representing the normal and the insG-carrying alleles. The Δ19bp mutation was undetectable in this sample.