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GPIba, GPIX, and GPV form a complex that binds Von Willebrand factor, and thus plays an important role in the initial process of platelet aggregation.
Auto Business News-28 October 2008-GM to unveil Chevrolet GPiX crossover coupe concept(C)2008 ENPublishing - http://www.enpublishing.co.uk
General Motors Corporation (GM) (NYSE: GM), the world's largest automaker, is unveiling its Chevrolet GPiX crossover coupe concept at the 2008 Sao Paulo Auto Show.
By using PCR, different polymorphic variants of GPIB a together with GPIX were cloned.
The GPIb complex is a heptamer composed of 4 distinct gene products: 2 molecules of GPIb[alpha], 2 of GPIb[beta], 2 of GPIX, and 1 of GPV.
Most of the genetic defects are due to mutations of the GPIba gene, but may also be due to defects of the GPIbI3 or GPIX genes.
The glycoprotein abnormality can be confirmed with flow cytometry or crossed immuno-electrophoresis, where a combined lack of GP lba, GPIO and GPIX is identified.
Most of the Bernard-Soulier genetic defects are due to mutations of the GPIb[alpha] gene, but may also be due to defects of the GPIb[beta] or GPIX genes.
GPIb[alpha], GPIb[beta] and GPIX, encoded by the GPIBA, GP1BB and GP9 genes, are all required for efficient expression of the complex on the platelet surface, while absence of GPV does not appear to affect receptor expression or VWF binding.
There is absence of aggregation response with ristocetin on platelet aggregation studies with normal aggregation with other aggregating agents.8 BSS diagnosis is confirmed by Flow cytometric analysis of platelets showing defective binding with CD42a (GPIX), CD42b (GP Ib[alpha]), CD42c (GP Ib[beta]), and CD42d (GPV) antibodies.9 The defective fragments of GP Ib-IX-V complex after separating with sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) may be identified by immunobloating.10
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