Functional analysis of two prothrombin 3'-untranslated region variants: the C20209T variant, mainly found among African-Americans, and the C20209A

摘要

Knowledge of the genetic risk factors for venous thromboem-bolism (VTE) in African-American populations, in which equal incidence rates of VTE have been reported as for Caucasians, remains sparse . The two most common genetic variants that predispose to VTE, factor V Leiden and prothrombin (FII) G20210A, occur rarely in individuals of African descent . A novel prothrombin C to T variation (FII C20209T) 1 bp upstream of the FII G20210A position was reported in 10 unrelated African-American individuals, seven with thrombo-philic complications [3-5] and three with obstetric complications . The variation in this position was detected during screening for the 20210A mutation .