title: Application of GPIIIa gene Taq I polymorphism to determination of carrier status in Glanzmann's thrombasthenia families of Chinese origin.
abstract: Glanzmann's thrombasthenia is a bleeding disorder caused by qualitative and/or quantitative defects of platelet membrane glycoprotein (GP) IIb/IIIa complex. The disease is inherited in an autosomal recessive manner. In this paper, cDNA probes were used to study restriction fragment length polymorphisms (RFLPs) in GPIIIa gene. A Taq I polymorphism was identified and this RFLP was composed of variant bands of 6.5 Kb/4.0 and 2.5 Kb with a frequency of 0.46/0.54 in Chinese population. The Taq I polymorphism was further localized by polymerase chain reaction (PCR) method to exon VIII of the GPIIIa gene. In two Glanzmann's thrombasthenia families, the Taq I RFLP studied by both Southern blotting and PCR methods identified the defective GPIIIa gene inherited by patients, and determined the genotype of asymptomatic subjects. Analysis of this Taq I polymorphism by PCR method should be potentially useful in future for the carrier detection and prenatal diagnosis in Glanzmann's thrombasthenia families.
authors.affiliation: Jiangsu Institute of Haematology, Suzhou Medical College, The People's Republic of China.
authors.forename: C
authors.initials: C
authors.lastname: Ruan
authors.forename: J
authors.initials: J
authors.lastname: Gu
authors.forename: X
authors.initials: X
authors.lastname: Wang
authors.forename: X
authors.initials: X
authors.lastname: Chu
authors.forename: J
authors.initials: J
authors.lastname: Pan
mesh_terms: D002681:China / Q000453:epidemiology; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006580:Genetic Carrier Screening / Q000379:methods*; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D010980:Platelet Membrane Glycoproteins / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D013915:Thrombasthenia / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D010980:Platelet Membrane Glycoproteins