MTHFR基因1298、677位点多态性与急性淋巴细胞白血病患儿甲氨蝶呤化疗毒副反应的相关性探讨

的：探讨亚甲基四氢叶酸还原酶（MTHFR）基因1298以及677位点多态性与急性淋巴细胞白血病（ALL）患儿甲氨蝶呤（MTX）化疗毒副反应的相关性。方法：分析2014年7月至2017年10月在我院就诊的98例ALL患儿应用MTX化疗和恢复期的临床资料，比较677位点和1298位点基因突变后的不同基因型个体，在高剂量MTX化疗后的代谢水平以及毒副反应。结果：MTHFR C677T突变基因个体对比野生型的基因个体更易发生胃肠道反应，A1298C突变基因个体对比野生型的基因个体更易发生口腔黏膜损害； MTHFR基因的A1298C突变基因个体骨髓抑制的风险低于野生型的基因个体；A1298C突变基因携带个体延长了MTX代谢时间。结论：本研究为急性淋巴白血病患者化疗提供了筛查指标，从而在化疗周期中降低患儿黏膜毒副反应。在基因诊断和化验时提供个体样本筛查指标，从而订制更为有效的治疗方案。

The Relationship between Methylene Tetrahydrofolate Reductase Gene Polymorphisms and the Side Effects of Methotrexate Chemotherapy in Acute Lymphoblastic Leukemia Children

Objective: To investigate the correlation between methylene tetrahydrofolate reductase (MTHFR) gene polymorphisms at 1298 and 677 and the toxicity of methotrexate chemotherapy in children with acute lymphoblastic leukemia (ALL). Methods: The clinical data of 98 children with ALL were analyzed statistically. To compare the genetic differences between 677 loci and 1298 loci. Evaluation of toxicity after high-dose MTX chemotherapy. Results: Individuals with MTHFR mutant genes haveno mucosal lesions and gastrointestinal tract responses compared to wild-type individuals. At the same time, individuals with the A1298C mutation in the MTHFR gene have a lower risk of myelosuppression and the A1298C mutant gene carries individuals extend the metabolism time of MTX. Conclusion: The experimental data provide patients with acute lymphoblastic leukemia an indicator of screening for future chemotherapy, which can reduce the risk of toxicities in the mucosa of children during the treatment cycle of chemotherapy. Ultimately, when genetic diagnosis and testing were used, abundant individual-specific treatment parameters were collected and more effective treatment options were ordered.