attomol® Factor XIII A1 Quicktype

REF 1264

20 reactions

Intended purpose

The assay attomol ® Factor XIII A1 Quicktype is used for the supportive diagnosis of thrombophilia. This test can be used to determine the transversion C>A in human factor XIII A1 Intron 1 (IVS1+12(A), rs2815822). 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.

Field of application

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: 9-20]. 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: 9-20]. The transversion of the base C to A in intron 1 (IVS1 + 12(A), rs2815822) of the factor XIII A1 gene leads to a reduced expression of the factor XIII A subunit, which can result in a deficit of factor XIII [Wang et al., 2011, Journal of Human Genetics, 56, 460-463]. The genotypes CA and AA could be detected with high frequency in a group of probands with mild Factor XIII deficiency. Thus carriers of the IVS1 + 12(A) variant exhibited a threefold higher risk of developing a mild Factor XIII deficiency [Ivaskevicius et al., 2013, Ann Hematol, 92:975-979]. The mutated allele of polymorphism rs2815822 occurs within the European population with a frequency of about 11 % [U.S National Library of Medicine, National Center for Biotechnology Information: SNP Datenbank, Link: „https://www.ncbi.nlm.nih.gov/snp/rs2815822/#frequency_tab”, Zugriffsdatum: 28.03.19].

Kit content
Technology
  • PCR-H2O
  • PCR-buffer I
  • Primer Factor XIII A1 QT
  • Instructions for use

You can finde more informations about Quicktype-Technologie here.

Short informations
Sample
DNA from blood
Devices
Thermal cycler
Gel or capillariy electrophoresis system
Duration
3-4 h
Determinations
20 reactions
Annex

The Instructions for use and the Material safety data sheet can be accessed via the login area. This area is conserved for Attomol customers. Please log in with your customer number and the corresponding password. For further informations please contact us directly.