Mora Yuselin, Villegas Cecilia, Mora Yamile M, Moreno Nancy
Instituto de Investigaciones Biomédicas 'Dr. Francisco J. Triana Alonso' (BIOMED) - Sección de Polimorfismos Genómicos, Facultad de Ciencias de la Salud, Universidad de Carabobo, Sede Aragua, Maracay, 2102, Venezuela.
Pharmacogenomics. 2023 Mar;24(4):219-225. doi: 10.2217/pgs-2022-0187. Epub 2023 Mar 22.
The presence of polymorphisms in the gene is associated with adverse effects in patients treated with standard doses of thiopurine drugs. Scientific evidence recognizes significant ethnic differences in their frequencies and how their early identification can prevent clinical complications. 150 healthy residents of Aragua, Venezuela were enrolled. The SNPs c.460G>A and c.719A>G were detected by PCR-restriction fragment length polymorphism assay and c.238G>C by allele-specific PCR. All genotype polymorphisms were heterozygous. , and genotypes were found in 4.0, 2.0 and 0.7%, respectively. 6.7% of individuals have an intermediate TPMT activity. These findings support the importance of prior genotyping of in Venezuelan patients who require thiopurine drug therapy.
该基因多态性的存在与接受标准剂量硫嘌呤类药物治疗的患者的不良反应相关。科学证据表明，其频率存在显著的种族差异，以及早期识别这些差异如何能够预防临床并发症。招募了委内瑞拉阿拉瓜州的150名健康居民。通过聚合酶链反应-限制性片段长度多态性分析检测到单核苷酸多态性c.460G>A和c.719A>G，通过等位基因特异性聚合酶链反应检测到c.238G>C。所有基因型多态性均为杂合子。分别在4.0%、2.0%和0.7%的个体中发现了 、 和 基因型。6.7%的个体具有中等硫嘌呤甲基转移酶（TPMT）活性。这些发现支持了在需要硫嘌呤类药物治疗的委内瑞拉患者中进行TPMT基因分型的重要性。
