Servicio de Farmacia, Hospital General Universitario Gregorio Marañón, Instituto de Investigación Sanitaria Gregorio Marañón, 28007 Madrid, Spain.
Histocompatibilidad Centro de Transfusión de Madrid, 28009 Madrid, Spain.
Int J Mol Sci. 2024 Oct 18;25(20):11207. doi: 10.3390/ijms252011207.
The possibility of using the same genotyping technology (TaqMan) for all the genetic tests included in the new Spanish pharmacogenomics portfolio should enable the application of a multigenotyping platform to obtain a whole pharmacogenomics profile. However, HLA-typing is usually performed with other technologies and needs to be adapted to TaqMan assays. Our aim was to establish a set of TaqMan assays for correct typing of , , , and . Therefore, we searched for and selected SNVs described in different populations as surrogate markers for these HLA alleles, designed TaqMan assays, and tested in a set of samples with known and . was correctly typed with a combination of rs1061235 and rs17179220 (PPV 100%, 95% CI 84.6-100-%; NPV 100%, 95% CI 96.5-100.0%), with rs10484555 (PPV 100%, 95% CI 69.2-100.0%; NPV 100%, 95% CI 96.8-100.0%) and rs144012689 (PPV 100%, 95% CI 69.2-100.0%; NPV 100%, 95% CI 96.8-100.0%), and with rs2395029 (PPV 99.5%, 95% CI 72.9-99.3%; NPV 99.5%, 95% CI 98.3-100.0%). was typed using two allele-specific TaqMan probes mixed with a reference and treated as a genotyping assay (PPV 100.0%, 95% CI 81.5-100.0%; NPV 100%, 95% CI 96.8-100.0%). In conclusion, we demonstrated a clinically useful way to type and alleles included in the Spanish pharmacogenomics portfolio using TaqMan assays.
我们旨在建立一套 TaqMan 检测方法，用于正确检测 、 、 和 等位基因。因此，我们搜索并选择了不同人群中描述的 SNV 作为这些 HLA 等位基因的替代标记物，设计了 TaqMan 检测方法，并在一组已知 和 的样本中进行了测试。 等位基因可通过 rs1061235 和 rs17179220 的组合进行正确分型（PPV100%，95%CI84.6-100%；NPV100%，95%CI96.5-100.0%）， 等位基因可通过 rs10484555（PPV100%，95%CI69.2-100.0%；NPV100%，95%CI96.8-100.0%）和 rs144012689（PPV100%，95%CI69.2-100.0%；NPV100%，95%CI96.8-100.0%）进行正确分型， 等位基因可通过 rs2395029（PPV99.5%，95%CI72.9-99.3%；NPV99.5%，95%CI98.3-100.0%）进行正确分型。 等位基因使用两种等位基因特异性 TaqMan 探针与一个参考探针混合进行检测，被视为一种基因分型检测方法（PPV100.0%，95%CI81.5-100.0%；NPV100%，95%CI96.8-100.0%）。总之，我们证明了一种使用 TaqMan 检测方法对西班牙药物基因组学组合中包含的 和 等位基因进行临床有用的基因分型方法。
