title: [Rapid detection of platelet glycoprotein IIb, IIIA gene variety by single strand conformation polymorphism analysis].
abstract: Glanzmann thrombasthenia (GT) is the most common inherited disorder of platelet defective function. Most of the molecular defects of GT identified in recent years have been caused by point mutation in the platelet glycoprotein (GP) IIb, IIIa genes. Trying to rapidly detect point mutation (or subtle variety) in GPIIb, IIIa genes, we have used single strand conformation polymorphism analysis (SSCPA) and studied the gene structure of platelet GPIIb. IIIa from normal controls and patients with Glanzmann thrombasthenia. After DNA preparation from peripheral blood, all the exons of GPI-Ib, IIIa were amplified by PCR. Denaturated PCR products were separated on mini polyacrylamide gel and stained by silver staining method in the Phast System. Only the PCR products with different migration on the gel were sequenced. 2 GT patients with point mutations and 1 GT patient with 16 bp deletion were found in our study. At the same time, we determined 3 polymorphisms in GPIIb gene. We conclude that SSCPA is a rapid, sensitive and effective method for detecting platelet IIb, IIIa gene variety.
authors.affiliation: Xiang Ya Hospital, Hunan Medical University.
authors.forename: F
authors.initials: F
authors.lastname: Chen
authors.forename: B
authors.initials: B
authors.lastname: Coller
authors.forename: D
authors.initials: D
authors.lastname: French
mesh_terms: D004252:DNA Mutational Analysis; D006801:Humans; D010980:Platelet Membrane Glycoproteins / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion; D013915:Thrombasthenia / Q000235:genetics*
chemical_list: D010980:Platelet Membrane Glycoproteins