title: Mutation screening for the prothrombin variant G20210A by melting point analysis with the Light Cycler system: atypical results, detection of the variant C20209T and possible clinical implications.
abstract: In the differential diagnosis of thrombophilic disorders genotyping of prothrombin and factor V are nowadays performed as a routine analysis. In the following we describe the unusual results of the mutation screening using melting point analysis for two patients and the consecutive detection of the mutation C20209T by sequencing the corresponding gene fragments. The molecular result is discussed with special respect to the medical history, ethnic background and clinical findings of both patients.
authors.affiliation: Hunsrueck Klinik, Simmern, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Wylenzek
authors.forename: J
authors.initials: J
authors.lastname: Trübenbach
authors.forename: P
authors.initials: P
authors.lastname: Gohl
authors.forename: G
authors.initials: G
authors.lastname: Wildhardt
authors.forename: S
authors.initials: S
authors.lastname: Alkins
authors.forename: M B
authors.initials: MB
authors.lastname: Fausett
authors.forename: J
authors.initials: J
authors.lastname: Decker
authors.forename: D
authors.initials: D
authors.lastname: Steinberger
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D006358:Hot Temperature; D006801:Humans; D008297:Male; D009691:Nucleic Acid Denaturation / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000295:instrumentation; D011516:Prothrombin / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods; D019851:Thrombophilia / Q000175:diagnosis
chemical_list: D011516:Prothrombin