一种新型单管多重实时 PCR 检测方法，用于基因分型硫嘌呤不耐受相关变异 c.415C>T。
A novel single-tube multiplex real-time PCR assay for genotyping of thiopurine intolerance-causing variant c.415C>T.
机构信息
Department of Hematology, Shaanxi Provincial Peoples' Hospital, Xi'an 710068, China.
The National Engineering Research Center for Miniaturized Detection Systems, Northwest University, Xi'an 710069, China.
出版信息
Exp Biol Med (Maywood). 2021 Sep;246(18):1961-1967. doi: 10.1177/15353702211026579. Epub 2021 Jun 30.
Thiopurines are commonly used in the treatment of acute lymphoblastic leukaemia and autoimmune conditions, can be limited by myelosuppression. The c.415C>T variant is strongly associated with thiopurine-induced myelosuppression, especially in Asians. The purpose of this study was to develop a fast and reliable genotyping method for c.415C>T and investigate the polymorphic distribution among different races in China. A single-tube multiplex real-time PCR assay for c.415C>T genotyping was established using allele-specific TaqMan probes. In 229 samples, the genotyping results obtained through the established method were completely concordant with those obtained by Sanger sequencing. The distributions of c.415C>T among 173 Han Chinese, 48 Miaos, 40 Kazakhs, and 40 Kirghiz were different, with allelic frequencies of 0.06, 0.02, 0.07, and 0, respectively. This method will provide a powerful tool for the implementation of the genotyping-based personalized prescription of thiopurines in clinical settings.
硫嘌呤类药物常用于治疗急性淋巴细胞白血病和自身免疫性疾病，但可受到骨髓抑制的限制。c.415C>T 变异与硫嘌呤类药物引起的骨髓抑制密切相关，尤其是在亚洲人群中。本研究旨在开发一种快速可靠的 c.415C>T 基因分型方法，并探讨其在中国不同种族中的多态性分布。本研究建立了一种基于单管多重实时 PCR 检测 c.415C>T 基因分型的方法，该方法使用等位基因特异性 TaqMan 探针。在 229 个样本中，通过建立的方法获得的基因分型结果与 Sanger 测序完全一致。在 173 例汉族、48 例苗族、40 例哈萨克族和 40 例吉尔吉斯族样本中，c.415C>T 的分布不同，等位基因频率分别为 0.06、0.02、0.07 和 0。该方法将为临床实施基于基因分型的硫嘌呤个体化处方提供有力工具。
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