Figure 2. GATA1 exon 2 mutation results in trace amounts of GATA1 mRNA containing exon 2.

Quantitative RT-PCR was performed on peripheral blood RNA samples from individuals I-2, II-1, and II-3, as well as a normal control individual. Data are shown as the mean ± SD. Trace amounts of exon 2 are present in the male carriers of the GATA1 exon 2 mutation (3% and 5%, respectively), and a female carrier (I-2) with this mutation has half the level of mRNA compared with controls (53%).