title: Multiplex primer extension reaction and capillary electrophoresis to study the frequency of thrombophilia-related mutations in a spanish population.
abstract: BACKGROUND
  Thrombophilia is defined as an inherited or acquired abnormality of hemostasis predisposing to thrombosis. While the most common thrombophilia has a genetic origin and is manifested by elevated circulating antiphospholipid antibodies, about 40% of cases presenting with thrombosis are acquired. Factor V Leiden G1691A, prothrombin G20210A, MTHFR C677T, and Factor XII C46T mutations are associated with the risk of developing thrombophilia.
  
  
  METHODS
  In this study, a method using single base extension assay coupled with fluorescent detection and capillary electrophoresis was applied to simultaneously detect G1691A, G20210A, C677T and C46T mutations in 1499 patients from Spain with suspicion of thrombotic disease.
  
  
  RESULTS
  Out of these individuals, 5.4% were heterozygous for G20210A mutation, 9.21% were heterozygous and 0.20% homozygous for G1691A mutation, 46.36% were heterozygous and 20.71% homozygous for MTHFR mutation, and 30.41% were heterozygous and 3.4% homozygous for C46T mutation.
  
  
  CONCLUSIONS
  We applied an accurate, simple, semi-automatic, and cost-effective method to simultaneously detect the main thrombophilia-related mutations, allowing us to determine the frequency of these mutations in a Spanish population.
authors.affiliation: Clinical Biochemistry Services, San Cecilio University Hospital, Granada, Spain. mzceres@correo.ugr.es
authors.forename: Mercedes
authors.initials: M
authors.lastname: Zafra-Ceres
authors.forename: Tomás
authors.initials: T
authors.lastname: de Haro
authors.forename: José Antonio
authors.initials: JA
authors.lastname: Gómez-Capilla
authors.forename: Esther
authors.initials: E
authors.lastname: Farez-Vidal
authors.forename: Antonio
authors.initials: A
authors.lastname: Poyatos
authors.forename: Carolina
authors.initials: C
authors.lastname: Gómez-Llorente
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D019075:Electrophoresis, Capillary; D005165:Factor V / Q000235:genetics*; D005174:Factor XII / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D009154:Mutation; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D011516:Prothrombin / Q000235:genetics*; D013030:Spain; D019851:Thrombophilia / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D005174:Factor XII; D042965:Methylenetetrahydrofolate Reductase (NADPH2)