Identification of mutations in IIb responsible for the thrombasthenia phenotype of patients GW, JF, and Chinese-14.

(A) Single-stranded conformation polymorphism analysis of αIIb exon 4 in 2 normal controls (WT), 8 unrelated thrombasthenic patients (lanes 1 and 3-9), and patient GW. An aberrantly migrating band in the sample from GW is indicated by the arrow. (B) Direct genomic sequence analysis of the region of interest of the αIIb gene from a normal individual, GW, JF, and Chinese-14. Differences from the normal sequence are indicated by the arrows. GW is homozygous for a mutation in the codon for P¹⁴⁵, whereas both a normal and a mutant base are present in the JF and Chinese-14 sequences, indicating that they are heterozygous for this mutation.