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The impact of methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism on transplant-related variables after allogeneic hematopoietic cell transplantation in patients receiving MTX as GVHD prophylaxis

机译:亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性对接受MTX预防GVHD的患者异基因造血细胞移植后移植相关变量的影响

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摘要

Genomic screening before allogeneic hematopoietic cell transplantation has emerged as an investigational tool used to predict events that elicit subtle effects following transplantation. Single-nucleotide polymorphisms are by far the most prevalent type of variants in the human genome, with an average occurrence every several 100 bases. Most single-nucleotide polymorphisms have no known effect on gene function, but a proportion of them may alter the expression and/or biological activity of encoded proteins, contributing to variation in disease susceptibility and treatment toxicity.
机译:异基因造血细胞移植之前的基因组筛选已成为一种研究工具,用于预测移植后引起微妙影响的事件。迄今为止,单核苷酸多态性是人类基因组中最普遍的变体类型,平均每100个碱基出现一次。大多数单核苷酸多态性对基因功能没有已知作用,但是其中一部分可能会改变编码蛋白的表达和/或生物学活性,从而导致疾病易感性和治疗毒性的变化。

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