Applied biosystems taqman snp genotyping assay

Manufactured by Thermo Fisher Scientific

Sourced in United States

The Applied Biosystems TaqMan SNP Genotyping Assay is a laboratory tool designed for the analysis of single nucleotide polymorphisms (SNPs) in DNA samples. The assay utilizes TaqMan technology to provide a reliable and accurate method for genotyping specific genetic variations.

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Lab products found in correlation

Quantstudio 7 real time pcr software, by Thermo Fisher Scientific (1 mentions) Taqman copy number assay, by Thermo Fisher Scientific (1 mentions) Qx200 ddpcr system, by Bio-Rad (1 mentions)

2 protocols using applied biosystems taqman snp genotyping assay

CTSB Variant Genotyping in PD Cohorts

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Genotyping was performed in 5 different cohorts (2077 PD cases and 615 controls) collected from independent sites (Table 2). All individuals were of European Non-Finnish descent. The study was approved by the ethical review board from each institution and all participants provided informed written consent. A custom Applied Biosystems Taqman SNP Genotyping Assay (Thermo Fisher Scientific, Waltham, MA, USA) was designed for CTSB c.851G > T p.Gly284Val (NM_001908). Genotyping was performed using a QuantStudio 7 Real-Time PCR system. QuantStudio™ 7 Real-Time PCR Software (Thermo Fisher Scientific, Waltham, MA, USA) was used for analysis.

Milanowski L.M., Hou X., Bredenberg J.M., Fiesel F.C., Cocker L.T., Soto-Beasley A.I., Walton R.L., Strongosky A.J., Faroqi A.H., Barcikowska M., Boczarska-Jedynak M., Dulski J., Fedoryshyn L., Janik P., Potulska-Chromik A., Karpinsky K., Krygowska-Wajs A., Lynch T., Olszewska D.A., Opala G., Pulyk A., Rektorova I., Sanotsky Y., Siuda J., Widlak M., Slawek J., Rudzinska-Bar M., Uitti R., Figura M., Szlufik S., Rzonca-Niewczas S., Podgorska E., McLean P.J., Koziorowski D., Ross O.A., Hoffman-Zacharska D., Springer W, & Wszolek Z.K. (2022). Cathepsin B p.Gly284Val Variant in Parkinson’s Disease Pathogenesis. International Journal of Molecular Sciences, 23(13), 7086.

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Validating aCGH Findings via ddPCR

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In order to assess potential mosaicism and independently validate aCGH findings, we developed Digital Droplet PCR (ddPCR) assays for the sequence variant in family 1 and three of the GJA8 microdeletions identified (families 12, 13 and 14) (Supplementary Materials). ddPCR assays were performed using a ddPCR QX200 System (Bio-Rad Laboratories).
Primers and Taqman probes were specifically designed for the GJA8 variant p.(Thr39Arg) using a custom Applied Biosystems TaqMan SNP Genotyping Assay (Thermo Fisher Scientific). For CNV analysis, commercial Taqman Copy Number assays (Thermo Fisher Scientific) were used for exon 2 of GJA8 and a reference gene (human RNase P gene).

Ceroni F., Aguilera-Garcia D., Chassaing N., Bax D.A., Blanco-Kelly F., Ramos P., Tarilonte M., Villaverde C., da Silva L.R.J., Ballesta-Martínez M.J., Sanchez-Soler M.J., Holt R.J., Cooper-Charles L., Bruty J., Wallis Y., McMullan D., Hoffman J., Bunyan D., Stewart A., Stewart H., Lachlan K., Fryer A., McKay V., Roume J., Dureau P., Saggar A., Griffiths M., Calvas P., Ayuso C., Corton M, & Ragge N.K. (2019). New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies. Human genetics, 138(8-9).

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