title: [Point mutation G-->A nucleotide 1691 factor V gene as a cause of developing thrombotic complications in a family with plasma resistance to activated protein C].
abstract: The presence of point mutation G-->A of nucleotide 1691 of Factor V gene (Leiden mutation) is responsible for the resistance of factor Va to activated protein C (APC-resistance) and is associated with an increased risk for thrombosis. Herein, we reported on a case of 20 year male with a two years history of recurrent, extensive deep vein thrombosis. His family history showed grand-mother from mother side, who died from thromboembolic disease many years ago. His laboratory investigation reveals abnormal results of APC-resistance test (R = 1.80) and normalized APC-resistance test sensitivity ratio (0.57). Moreover, on the basis of a sequence specific primer polymerase chain reaction (SSP-PCR) a heterozygous from (G/A at 1691 position) of Leiden mutation was found. Family study showed two between 8 others asymptomatic persons with abnormal results of APC-resistance test and heterozygous genotype.
authors.affiliation: Kliniki Hematologii Akademii Medycznej im. K. Marcinkowskiego.
authors.forename: K L
authors.initials: KL
authors.lastname: Lew Andowski
authors.forename: M
authors.initials: M
authors.lastname: Rozek
authors.forename: Z
authors.initials: Z
authors.lastname: Turowiecka
authors.forename: W T
authors.initials: WT
authors.lastname: Markiewicz
authors.forename: K
authors.initials: K
authors.lastname: Zawilska
mesh_terms: D000328:Adult; D001120:Arginine / Q000235:genetics; D001483:Base Sequence; D004198:Disease Susceptibility; D005165:Factor V / Q000235:genetics*; D006151:Guanosine / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D011486:Protein C / Q000235:genetics*; D013924:Thrombophlebitis / Q000235:genetics*
chemical_list: D011486:Protein C; D006151:Guanosine; D005165:Factor V; D001120:Arginine