| 杨春会,段绍琴,崔婷婷,等.NUDT15基因多态性与云南省彝族儿童急性淋巴细胞白血病相关性研究[J].安徽医药,2020,24(3):492-496. |
| NUDT15基因多态性与云南省彝族儿童急性淋巴细胞白血病相关性研究 |
| The study on the correlation between polymorphism of NUDT15 gene and acute lymphoblastic leukemia in children of Yi nationality in Yunnan province |
| |
| DOI：10.3969/j.issn.1009?6469.2020.03.018 |
| 中文关键词: 前体细胞淋巴母细胞白血病淋巴瘤 多态现象，遗传 外显子 硫代肌苷 等位基因 突变 儿童 彝族 NUDT15 |
| 英文关键词: Precursor cell lymphoblastic leukemia?lymphoma Polymorphism,genetic Exons Thioinosine Alleles Mutation Child Yi nationality NUDT15 |
| 基金项目:云南省科技计划项目( 2017F0242) |
|
| 摘要点击次数: 2502 |
| 全文下载次数: 604 |
| 中文摘要: |
| 目的分析巯基嘌呤( 6?MP)代谢 NUDT15基因多态性与云南省彝族儿童急性淋巴细胞白血病( ALL)的相关性，为 6?MP的临床治疗做进一步的指导，为 ALL更好的个体化治疗提供新的理论依据。方法按抽签法随机选取云南省 2017年 1月至 2018年 9月期间昆明医科大学附属儿童医院汉族健康儿童、彝族健康儿童和彝族初发的 ALL病儿( 1~16岁)的外周血样本各 50例为研究对象，提取 DNA，经 NUDT15基因 1?3号外显子的基因扩增及测序后，分析表达差异，并临床记录 6?MP在 ALL治疗中的骨髓毒性反应。结果入选的 150例来自云南省年龄介于 1~16岁的儿童 NUDT15外显子( Exon)1测序后，发现都有 2种变异体，分别为 rs554405994(c. 36_37insGGAGTC，编码 p. Val18_Val19insGlyVal)和 rs186364861(c. 416G＞A，编码 p.Arg139His)，杂合子突变 TC基因型比例( 18%)高于纯合子突变 TT基因型( 1.3%)，野生型 CC基因型所占比例在 78%~84%。在 6?MP维持治疗过程中，出现发热、白细胞降低、中性粒细胞减少、血小板减少、感染性休克等不良反应。结论 150例儿童的 NUDT15 Exon1中发现的 2种变异体( rs186364861，rs554405994)特异性差，不适合云南省彝族作为 6?MP不良反应的相关检测基因，然而仍对临床工作实践有一定的指导作用，同时，应继续寻找，其他适合云南省彝族儿童 ALL的巯嘌呤敏感基因。 |
| 英文摘要: |
| Objective To analyze the correlation between the polymorphism of NUDT15 gene for thiopurine(6?MP)metabolism and acute lymphoblastic leukemia(ALL)in children of Yi nationality in Yunnan province，and to provide further guidance for the clini?cal application of 6?MP and a new theoretical basis for individualized treatment of acute lymphoblastic leukemia(ALL).Methods From January 2017 to September 2018，50 cases of healthy Han children，healthy Yi children and first?onset ALL children(aged 1? 16)of the Yi nationality in the Children’s Hospital Affiliated to Kunming Medical University were randomly selected as subjects.DNA was extracted from peripheral blood samples.After gene amplification and sequencing of exon 1 and 3 of NUDT15 gene，ex? pression differences were analyzed，and the myelotoxicity of 6?MP in ALL treatment was clinically recorded.Results Two variants， rs186364861(c.416G＞A，coding p.Arg139His)and rs554405994(c.36，37insGGAGTC，coding p.Val18_Val19insGlyVal)were foundafter NUDT15 exon1 sequencing of 150 enrolled children aged between1 and 16 years old in Yunnan province.Thepercent?，age of heterozygote mutant TC genotype(18%)was much higher than that of homozygote mutant TT genotype(1.3%)，and the per? centage of wild type CC genotype was 78%?84%.During 6?MP maintenance therapy，fever，leukopenia，neutropenia，thrombocytope? nia，septic shock and other adverse reactions occurred.Conclusions The specificity of two variants(rs186364861，rs554405994)of NUDT15 exon1 which were found in all the children is poor.They are not suitable for the detection of 6?MP adverse reactions inYi nationality of Yunnan Province，but it is helpful to clinical practice.We should continue to look for other thiopurinine sensitivegenes suitable for ALL of Yi children in Yunnan Province. |
|
查看全文
查看/发表评论 下载PDF阅读器 |
| 关闭 |
