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TATAA GrandPerformance® Direct Blood Genotyping Assay (ACTN3)

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TATAA GrandPerformance® Direct Blood Genotyping Kits

TATAA GrandPerformance® Direct Blood Genotyping Kits are developed and validated to produce a robust allelic discrimination between available genotypes using whole blood as template. As DNA purification is not required, very small amount of blood is needed for the analysis and can be obtained by a simple finger prick – saving time for the person performing the analysis and comfort of the donor.

The kit contains TATAA GrandPerformance® Lysis Buffer, which efficiently release DNA and reduce inhibition of whole blood constituents, enabling an efficient and reproducible DNA amplification. Once the blood is mixed with the Lysis Buffer, it can be stored for at least a week in room temperature, fridge or freezer before being heat-treated, and still produce a stable genotyping result.

The assays are duplex probe-based assays, which detect the presence of both alleles in a single test tube, where one genotype is detected with the fluorophore FAM, and the other with the fluorophore HEX. All assays have been validated using the TATAA Probe GrandMaster® Mix, included in this kit.

ACTN3 – Background

The TATAA ACTN3 assay targets a SNP (ID: rs1815739) located in the human gene ACTN3, which encode a muscle protein called alpha-actinin-3. The SNP encode a premature stop codon in ACTN3, abolishing protein production. Alpha-actinin-3 is a structural protein found only in type II muscle fibers – fast-twitch fibers that are responsible for high-power muscle contractions. Alpha-actinin-3 deficiency is associated with a lower fast-twitch fiber percentage, and several research papers suggest that the mutant phenotype also is underrepresented in elite sprint, power and strength athletes (see manual under documents for refs.1-11). The TATAA ACNT3 assay will tell if you have 2, 1 or 0 functional ACTN3-alleles (corresponding to a Wild Type, Heterozygote or Mutant ACTN3 genotype, respectively). If you carry at least one copy of the intact ACTN3 gene (Wild type or Heterozygote genotype) you likely have a higher potential to perform well in power-oriented sports or activities compared to somebody with both copies of ACTN3 inactivated (Mutant genotype).

Kit Contents:

• TATAA GrandPerformance® Lysis Buffer A (2 tubes á 1250 µl, 100 lysis reactions in total)*
• TATAA GrandPerformance® SNP Assay ACTN3 rs1815739 (25x) (1 tube á 100 µl)
• TATAA Probe GrandMaster® Mix (2x) (1 tube á 1250 µl)
• ACTN3 control DNA – WT (wild type) (1 tubes á 100 µl, 1E4 copies/µl)*
• ACTN3 control DNA – Het (heterozygote) (1 tubes á 100 µl, 1E4 copies/µl)*
• ACTN3 control DNA – Mut (mutant) (1 tubes á 100 µl, 1E4 copies/µl)*

*Controls and lysis buffer can be purchased seperately. Please contact us for further details.

# For Research Use Only

Specifications

Partno: TA31-ACTN3

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