attomol^® Factor XIII B Quicktype

The assay attomol^® Factor XIII B Quicktype is used for the supportive diagnosis of thrombophilia. This test can be used to determine the polymorphism rs12134960 in the intron K of the human factor XIII B gene (nt29756, c.1952+144C>G). It is a manual, qualitative assay using an allel-specific PCR with integrated probe hybridisation. The evaluation takes place by agarose gel electrophoresis, which can be carried out manually or automatically. The sample material has to be genomic DNA prepared from EDTA or citrate blood.

A blood coagulation factor XIII deficiency (factor XIII) is an autosomal recessive disease characterised by disturbed tissue healing, tendency to spontaneous bleeding and increased risk of miscarriage in affected women [Mikkola et al., 1994, Blood, 84, 517-525]. Factor XIII, activated by thrombin, cross-links fibrin, which is very important for the stability of blood clots and thus prevents premature fibrinolysis [Undas et al., 2005, J Thromb Haemost, 3, 1-7; Komáromi I., Bagoly Z., Muszbek L., 2011, J Thromb Haemost, 9: 9-2]. It is known that the genes of the two enzymatic factor XIII subunits A and B are very polymorphic [Komáromi I., Bagoly Z., Muszbek L., 2011, J Thromb Haemost, 9: 9-2]. The most important polymorphism of factor XIII-B subunit, which leads to a significant difference in the function of factor XIII, is located in the intron K (nt29756, c.1952+144 C>G; rs12134960). The exchange of the base C to G leads to the formation of a new splicing site. This in turn causes the formation of a varied amino acid chain, whereby the structure and thus also the function of factor XIII can be altered [Iwata H. et al., 2009, J Thromb Haemost, 7: 1084-9 1]. Two independent studies showed that carriers of the polymorphism rs12134960 in the factor XIII B gene had lower factor XIII concentrations [Mezei et al., 2015, Int. J. Mol. Sci., 16, 1143-1159; Székely et al., 2018, Scientific Reports, 8:7662]. The mutated allele of polymorphism rs12134960 occurs within the European population with a frequency of about 12 % [U.S National Library of Medicine, National Center for Biotechnology Information: SNP Datenbank, Link: „https://www.ncbi.nlm.nih.gov/snp//#frequency_tab”, Zugriffsdatum: 28.03.19].

• PCR-H₂O
• Primer Factor XIII B QT
• PCR-buffer I
• Instructions for use

Mehr Informationen zur Quicktype-Technologie finden Sie hier.