title: Evaluation of GenoFlow Thrombophilia Array Test Kit in its detection of mutations in Factor V Leiden (G1691A), prothrombin G20210A, MTHFR C677T and A1298C in blood samples from 113 Turkish female patients.
abstract: Thrombophilia is a heritable blood disease characterized by an increased tendency to form abnormal blood clots that can block blood vessels. In obstetrics and gynecology, it has been shown by a number of reports that a proportion of recurrent miscarriages involve thrombophilia-related mutations, in particular, Factor V G1691A, prothrombin G20210A, and MTHFR C677T and A1298C. In this study, we examined the frequency of these four mutations in 113 female Turkish patients who had prior complications in pregnancy, using the DiagCor GenoFlow Thrombophilia Array Test kit. Heterozygous MTHFR C677T and A1298C mutations were detected in 46% of the patients, and among these patients, 60% of them carried double heterozygous mutations. In contrast, the heterozygous Factor V G1691A and prothrombin G20210A were detected only in a smaller number of patients, respectively, 13% and 3%. The GenoFlow kit demonstrated 100% concordance with results from Sanger sequencing, which can be translated into sensitivity and specificity both at 100% within this series of patients.
authors.affiliation: Department of Medical Genetics, Gazi University Faculty of Medicine , Ankara, Turkey .
authors.forename: Ebru
authors.initials: E
authors.lastname: Aytekin
authors.forename: Sezen Guntekin
authors.initials: SG
authors.lastname: Ergun
authors.forename: Mehmet Ali
authors.initials: MA
authors.lastname: Ergun
authors.forename: Ferda E
authors.initials: FE
authors.lastname: Percin
mesh_terms: D020016:Activated Protein C Resistance / Q000097:blood / Q000235:genetics*; D000328:Adult; D019943:Amino Acid Substitution; D005165:Factor V / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006579:Heterozygote; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000097:blood / Q000235:genetics*; D020125:Mutation, Missense; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods / Q000592:standards; D011247:Pregnancy; D011248:Pregnancy Complications / Q000097:blood / Q000235:genetics; D011516:Prothrombin / Q000235:genetics* / Q000378:metabolism; D011933:Reagent Kits, Diagnostic; D012680:Sensitivity and Specificity; D014421:Turkey
chemical_list: D011933:Reagent Kits, Diagnostic; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)