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IsoAmp® Factor V Leiden SNP Detection

 
Research Use Only

Download: Scientific Poster for AMP 2007
Description:
Factor V Leiden is the most common hereditary blood coagulation disorder in the United States. It affects about 5% of the Caucasian population. The disease is less common in Hispanics and African-Americans.

The cause of this disorder is a single nucleotide change (G to A at position 1691) of the Factor V gene, referred to as the Factor V Leiden mutation, resulting in a change in the protein sequence from an arginine to a glutamine at position 506. The mutant protein cannot be inactivated by activated protein C, which eventually leads to excess fibrin and clotting.

A 121 bp target fragment is amplified by isothermal Helicase Dependent Amplification (HDA) using one common primer and two allele specific primers: one for the wild type G (labeled with FI) and the other for the mutant A (labeled with DIG).

After amplification, the reaction tube is placed in a Type II BESt™ cassette for genotype determination. A Wild-type allele (W) will show a visible T line and Mutant allele (M) will show a colored C line (Figure 1). Both T and C lines will be visible for a heterozygous genotype (H). It is invalid if no visible line is observed.
 
Advantages:
"Instrument free" genotyping
Turnaround time: < 2 hours
Easy-to-read test results


Figure 1. Typical results on BESt™ Cassette.
M: mutant
W: wild-type
H: heterozygous

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