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.

中文翻译：

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CD247 3'-非翻译区多态性 rs1052231 的简单基因分型方法和参考细胞组的表征

CD247（或 CD3-ζ 链）是 T 细胞抗原受体 (TCR) 复合物的重要接头和信号转导分子，它还与 NK 细胞激活受体如 NKp46、NKp30 和 CD16A (FcγRIII) 偶联。CD247表达的非编码序列多态性和变异是一个受严格调控的过程，与多种健康状况下的免疫反应改变有关。CD247 3'-非翻译区 rs1052231的核苷酸 844 处的单核苷酸多态性 (T > A)与较低的CD247基因表达有关，并且已被研究为自身免疫性疾病的潜在生物标志物。我们在此介绍一种简单、准确、可靠、省时且经济高效的CD247方法-rs1052231 基因分型。使用这种方法，基于聚合酶链反应与面对的两对引物 (PCR-CTPP)，我们还在一组全球可用的细胞系中表征了CD247 -rs1052231 基因型，这将有助于研究这种多态性在免疫力和人类健康。