[Carrier detection of Glanzmann's thrombasthenia by Taq I restriction fragment length polymorphism of GPIIIa gene].
Glanzmann's thrombasthenia (GT) is an autosomal recessive bleeding disorder in which platelets fail to aggregate in second hemostasis due to qualitative and/or quantitative defect in their GPIIb/IIIa complex. In the present study, both phenotypic and genotypic assays were performed by Western blot and Southern blot techniques in 13 members of 3 GT families. 2 GT carriers of 3 probable carriers whose clinical features and GPIIb/IIIa protein were essentially normal were determined by Taq I/5' GPIIIa RFLP. There were no major deletion or insertion in GPIIIa gene in 4 patients with GT. Thus, the genetic defects in these patients is most likely due to a small change or point mutation in the nucleotide sequence of GPIIIa coding region.
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D000293:Adolescent; D015139:Blotting, Southern; D015153:Blotting, Western; D002648:Child; D002675:Child, Preschool; D005260:Female; D005796:Genes; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D008297:Male; D010641:Phenotype; D010980:Platelet Membrane Glycoproteins / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D013915:Thrombasthenia / Q000175:diagnosis / Q000235:genetics*
D010980:Platelet Membrane Glycoproteins