Fig. 1

The effect of GP Ibα c.987G > A mutation and FLNA c.1582G > A mutation on the platelet functions. a Platelet aggregation and secretion induced by collagen, convulxin (Cvx) and ADP. Aggregations of patient were expressed as the percentage change in light transmission. The levels of ATP release were expressed as the amount of ATP released (nmol). Traces were representative of at least 2 experiments. b Part of the GP Ibα gene sequence with the c.987G > A mutation and FLNA gene sequence with the c.1582G > A mutation. c Flow cytometric analysis and immunoblotting analysis of GP Ibα and GPIX expression on transfected CHO cells. (white curve) CHO cells incubated with specific MoAb against GP Ibα (SZ2) or GPIX (SZ1), (gray curve) CHO cells with vectors pcDNA 3.1(−) incubated with mouse IgG. WT means wild-type GP Ibα; MT means mutant GP Ibα. d The level and distribution of FLNA using a monoclonal antibody specific for the C-terminal FLNA. Fluorescent microscopy showed that FLNA was mostly found in a peripheral layer, which was similar with that of normal controls. These results were representative of at least 2 independent experiments. e Platelet signaling induced by convulxin (Cvx).Washed platelets in suspension were activated by Cvx (400 PM) in the absence of stirring. Tyrosine phosphorylation of Syk (Syk-P) and LAT (LAT-P) was assessed by immunoblotting with an anti–Syk-P and anti–LAT-P, respectively. These results were representative of at least 3 independent experiments. C means control; P means patient