[Carrier detection of Glanzmann's thrombasthenia by Taq I restriction fragment length polymorphism of GPIIIa gene] Zhonghua yi xue za zhi. [Zhonghua Yi Xue Za Zhi] Journal article

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.

Zhonghua yi xue za zhi. [Zhonghua Yi Xue Za Zhi]

Adolescent
Blotting, Southern
Blotting, Western
Child
Child, Preschool
English Abstract
Female
Genes
Heterozygote Detection
Humans
Male
Phenotype
Platelet Membrane Glycoproteins
Polymorphism, Restriction Fragment Length
Research Support, Non-U.S. Gov't
Thrombasthenia