Structural Integrity of the Glycoprotein lib and lila Genes in Glanzmann Thrombasthenia Patients

Glanzmann thrombasthenia is an autosomal recessive disorder of the platelet glycoproteins (GP) lIb and lila. These glycoproteins normally serve as receptors for other adhesive glycoproteins. including fibrinogen, von Willebrand factor, and fibronectin. Most patients affected by Glanzmann thrombasthenia have low levels of GPIIb and GPIIIa; however. the separate mechanisms responsible for the deficiency in each remain to be determined. eDNA clones coding for the GPIIb and GPIIIa have been recently isolated. and their corresponding genomic sequences have been colocalized to the long arm of chromosome 1 7. Since a deletional event involving one or both of these structural genes could explain the disease phenotype. we have studled the DNA of two previously well-characterized cohorts