Role of Conformation Sensitive Gel Electrophoresis in Identifying Mutations in Glanzmann’s Thrombasthenia Patients

Glanzmann’s Thrombasthenia (GT) is an inherited platelet function disorder due to a defect in platelet glycoprotein αIIb and / or β3. For the detection of unknown mutations affecting the genes αIIb and β3, screening techniques followed by sequencing are in use. Mutation screenings, such as Single Stranded Conformation Polymorphism (SSCP), Denaturing Gradient Gel Electrophoresis (DGGE) and Conformation Sensitive Gel Electrophoresis (CSGE) are useful methods in analyzing patients group in a larger volume. The phenotypic variability of hematological disorders can be explained using these techniques. However, low cost and high detection efficiency techniques are preferred, particularly, in developing countries. In our experience, we studied a platelet function disorder in a larger volume using the technique, CSGE, which is comparatively an efficient, low cost and high throughput for the mutation screening in a larger volume. The study included 45 GT patients to analyze the mutation in the genes ITGA2B and ITGB3 which code for αIIb and β3 respectively. Mutation screening, followed by sequencing, revealed mutations in 80% unrelated GT patients. In our experience, CSGE is helpful in finding the mutations in GT patients.