A simple genotyping method for CD247 3'-untranslated region polymorphism rs1052231 and characterization of a reference cell panel.

CD247 (or CD3-ζ chain) is an essential adaptor and signal-transducing molecule of the T-cell antigen receptor (TCR) complex, and it also couples to NK-cell activating receptors such as NKp46, NKp30 and CD16A (FcγRIII). Noncoding sequence polymorphisms and variations in CD247 expression, a tightly regulated process, have been related with an altered immune response in multiple health conditions. A single nucleotide polymorphism (T > A) at nucleotide 844 of the CD247 3'-untranslated region, rs1052231, has been related with lower CD247 gene expression and it has been investigated as a potential biomarker of autoimmune disease. We present here a simple, accurate, reliable, time-efficient, and cost-effective method for CD247-rs1052231 genotyping. Using this method, based on polymerase chain reaction with confronting two-pair primers (PCR-CTPP), we have also characterized the CD247-rs1052231 genotypes in a panel of worldwide available cell lines, which should facilitate study of the role of this polymorphism in immunity and human health. © 2021 The Authors. HLA: Immune Response Genetics published by John Wiley & Sons Ltd.

Citation

Karima Al-Akioui-Sanz, Manuela Moraru, Carlos Vilches. A simple genotyping method for CD247 3'-untranslated region polymorphism rs1052231 and characterization of a reference cell panel. HLA. 2021 Sep;98(3):218-222

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PMID: 34233083

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