Allogeneic stem cell transplantation-A curative treatment for paroxysmal nocturnal hemoglobinuria with PIGT mutation: A case report

Figure 2 Genetic analysis. A: Genetic sequencing. Cell sorting was performed on blood samples (Robosep, Easy sep CD3 whole blood positive selection kit^®). The positive fraction consisted of a T lymphocyte population (purity: 99%), and the negative fraction included B lymphocytes, natural killers, monocytes and polymorphonuclear cells. DNA was extracted from these two fractions using a Qiagen DNA minikit^®. The entire PIGT gene was sequenced by the Sanger method (Big Dye Terminator v3.1, Life Technologies) using primers for each exon; B: CGH array (Agilent, Sure Print G3 Human CGH Microarray 4x180K) performed on DNA extracted from bone marrow samples highlights a large somatic deletion of 18 Mb from 20q11.21 to 20q13.13, removing the entire PIGT gene.