Genotyping E756del Mutation

At the end of the study visit, saliva samples were collected with a DNA collection kit (OG-500, DNA Genotek, Canada). Genomic DNA was isolated according to the manufacturer’s instructions (prepIT-L2P, DNA Genotek, Canada). The E756 locus was amplified with the primers described in Ma et al. (26 (link)), and the amplicon was sequenced (Microsynth AG, Switzerland) to distinguish E756del carriers from noncarriers.

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Götschi T., Held V., Klucker G., Niederöst B., Aagaard P., Spörri J., Passini F.S, & Snedeker J.G. (2023). PIEZO1 gain-of-function gene variant is associated with elevated tendon stiffness in humans. Journal of Applied Physiology, 135(1), 165-173.

Publication 2023

OG-500 prepIT-L2P

Genomic Primers Saliva

Corresponding Organization : ETH Zurich

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Variable analysis

independent variables

E756 locus amplification with the primers described in Ma et al. (26)

dependent variables

Identification of E756del carriers and noncarriers

control variables

Saliva sample collection with a DNA collection kit (OG-500, DNA Genotek, Canada)
Genomic DNA isolation according to the manufacturer's instructions (prepIT-L2P, DNA Genotek, Canada)
Amplicon sequencing (Microsynth AG, Switzerland)

controls

Positive control: Not explicitly mentioned
Negative control: Not explicitly mentioned

Annotations

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