Expression of mutant Rac 2 in patient bone marrow-derived cells.

(A) RT-PCR performed as described in “Materials and methods” and PCR product separated on agarose gel. Lane 1, marker. Lane 2, PCR product derived from healthy donor. Lane 3, PCR product derived from patient. Lane 4, control; no RNA. Location of predicted 597-bp PCR product is shown at arrow. (B) Partial nucleotide sequence of normal vs mutant cDNA derived from patient RT-PCR product. Upper panel: sequence derived from cDNA product of healthy donor (A, lane 2). Lower panel: sequence derived from cDNA of patient. Location of G→A base-pair change is noted in the sequence on the upper and lower panels by arrowheads. Predicted amino acid change is at position 57.