title: Prothrombin gene 20209 C >T along with the first description of a homozygous polymorphism at the 3' downstream region +4 C >T in the Turkish population.
abstract: Mutation screening studies related with thrombosis revealed that prothrombin 20210A allele of the prothrombin gene leads to an increase in plasma prothrombin levels. The G20210A mutation screening has become a routine analysis in patients with thrombosis. For the detection of the mutation, several molecular techniques have been defined. Real-time polymerase chain reaction is an easy and feasible way to monitor this mutation according to the melting point analysis. Here we report a different pattern in the LightCycler melting point analysis of 2 patients with thrombosis. DNA sequencing of the prothrombin gene showed that these patients with an atypical melting point profile carry a 20209 C >T mutation along with a novel homozygous polymorphism at the 3' downstream region, +4 C >T.
authors.affiliation: Department of Ankara University, Pediatric Molecular Genetics, Cayyolu 06810, Ankara, Turkey.
authors.forename: Hilal
authors.initials: H
authors.lastname: Ozdag
authors.forename: Yonca
authors.initials: Y
authors.lastname: Egin
authors.forename: Nejat
authors.initials: N
authors.lastname: Akar
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics* / Q000502:physiology; D011516:Prothrombin / Q000737:chemistry / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013927:Thrombosis / Q000097:blood* / Q000235:genetics*; D044366:Transition Temperature
chemical_list: D011516:Prothrombin