title: Allelic and genotypic frequencies of platelet glycoprotein polymorphisms in a Portuguese population.
abstract: OBJECTIVE
  We studied genotypic and allelic frequencies of polymorphisms that can affect platelet function, namely the Kozak, VNTR and HPA-2 polymorphisms of glycoprotein Ibα, the Pl(A) polymorphism of glycoprotein IIIa and the C807T polymorphism of glycoprotein Ia, in a Portuguese population composed of 227 donors.
  
  
  METHODS
  PCR-RFLP was used to assess the Kozak, HPA-2, Pl(A) and C807T polymorphisms. The VNTR polymorphism was discriminated by different weight bands on electrophoresis.
  
  
  RESULTS
  All genotypic frequencies were in Hardy-Weinberg equilibrium and do not differ from other Caucasian populations. Genotypic frequencies were 68.3%, 26.9% and 4.8% for Pl(A1/A1), Pl(A1/A2) and Pl(A2/A2) genotypes of the Pl(A) polymorphism, 79.3%, 20.3% and 0.4% for TT, TC and CC genotypes of the Kozak polymorphism, 81.1%, 18.9% and 0.0% for aa, ab and bb genotypes of the HPA-2 polymorphism, 15.4%, 0.9%, 70.5%, 11.5%, 1.3% and 0.4% for BC, BD, CC, CD, DD and CE genotypes of the VNTR polymorphism, and 39.7%, 50.2% and 10.1% for CC, CT and TT genotypes of the C807T polymorphism.
  
  
  CONCLUSIONS
  The Portuguese population has now been characterized in terms of major platelet glycoprotein polymorphisms, which will be an important tool for further studies to assess the role of platelet glycoproteins in individual predisposition to prothrombotic conditions and response to antithrombotic therapy.
authors: Centro de Investigação em Tecnologias da Saúde, Cooperativa de Ensino Superior, Politécnico e Universitário, Gandra, Portugal. luispinacabral@hotmail.com
authors: Luís Bernardo
authors: LB
authors: Pina-Cabral
authors: Virgínia
authors: V
authors: Carvalhais
authors: Bárbara
authors: B
authors: Mesquita
authors: Claudia
authors: C
authors: Escórcio
authors: Paula
authors: P
authors: Salgado
authors: Amândia
authors: A
authors: Santos
authors: Ema
authors: E
authors: Ruivães
authors: Maria Céu
authors: MC
authors: Monteiro
authors: Isabel
authors: I
authors: Arrieta
authors: Enrique
authors: E
authors: O'Connor
authors: António
authors: A
authors: Almeida-Dias
authors: Begoña
authors: B
authors: Criado
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010980:Platelet Membrane Glycoproteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D011174:Portugal; D055815:Young Adult
chemical_list: D010980:Platelet Membrane Glycoproteins