title: The prothrombin nt20210 A allele as a risk factor for venous thromboembolism: detection of heterozygous and homozygous carriers by alternative methods.
abstract: The A allele of a G/A dimorphism at position nt20210 in the 3'-untranslated region of the prothrombin gene has been recently identified as a common risk factor for venous thrombosis. It is detected mostly by PCR amplification using a mutagenic primer and subsequent restriction analysis. We have applied two alternative methods--DGGE and SSCP-to analyse the nt20210 dimorphism in a series of 383 consecutive patients with deep venous thrombosis and in 144 controls. Both screening methods resulted in the unambiguous identification of carriers of the nt20210 A allele not only in heterozygotes but in two cases as well in homozygous state. The frequency of the A allele was 0.7% in the control group but 3.7% in the patient group, demonstrating a substantial increase in risk for venous thrombosis in carriers of the 20210 A allele. Both methods have the potential to detect other DNA sequence variations in the vicinity of the 20210 G/A dimorphism. This was demonstrated by the identification of a new mutation T20122G in the 3'-untranslated region of the prothrombin gene in a single patient.
authors.affiliation: Department of Medical Engineering, University of Applied Sciences (FH) Jena, Germany. Michael.Meyer@mt.fh-jena.de
authors.forename: M
authors.initials: M
authors.lastname: Meyer
authors.forename: G
authors.initials: G
authors.lastname: Kutscher
authors.forename: G
authors.initials: G
authors.lastname: Vogel
mesh_terms: D000483:Alleles; D004586:Electrophoresis / Q000379:methods; D005782:Gels; D005787:Gene Frequency; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D020125:Mutation, Missense; D018807:Polymorphism, Single-Stranded Conformational; D011489:Protein Denaturation; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors; D017422:Sequence Analysis, DNA; D013923:Thromboembolism / Q000097:blood / Q000235:genetics*
chemical_list: D005782:Gels; D011516:Prothrombin