Figure 2
From: Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature
Cytogenetic and molecular findings of familial AML-MDS with inherited GATA2 mutations. (A) Cytogenetic analysis performed on fresh bone marrow aspirate revealed all 20 cells with a deletion of long arm of chromosome 7, i.e. 46,XX,del(7)(q22q36)[20]. (B) To screen GATA2 for known mutations, PCR products were amplified by either Qiagen Taq or by Roche GC rich PCR kit using primers listed in table below. PCR products were Sanger sequencing using the same primers with Big Dye chemistry (ABI) on a 3730xl DNA Analyzer (ABI). Bidirectional Sanger sequencing revealed 2 heterozygous mutations in 2nd zinc finger domain of GATA2 gene, p. Thr358Lys (c.1074 C > A) and p.Leu359Val (c.1076 T > G). To differentiate whether the mutations were cis or trans, PCR products were cloned into a pCI vector (Promega) and 8 clones were sequenced. Of the 8 clones, 3 failed to produce sequence information, 2 contained both wild type alleles and 3 contained both mutant alleles.