Mutational analysis of GATA1.

(A) Sequencing analysis of GATA1 cDNA in patient V:7, obligate carrier IV:4, a healthy brother V:6, and a control male. A base pair substitution A to G was found at nucleotide position 653 in V:7 (hemizygous) and IV:4 (heterozygous). (B) This mutation results in a replacement of aspartate for glycine at position 218, located in the loop of the amino-terminal GATA1 zinc finger.