临床儿科杂志 ›› 2018, Vol. 36 ›› Issue (2): 113-.doi: 10.3969/j.issn.1000-3606.2018.02.006

• 综合报道 • 上一篇    下一篇

NDUT15 基因多态性与巯基嘌呤诱导的白细胞减少症的相关性

刘镜军, 王雪霞   

  1. 山东单县中心医院(山东菏泽 274300)
  • 收稿日期:2018-02-15 出版日期:2018-02-15 发布日期:2018-02-15
  • 通讯作者: 刘镜军  E-mail:liujingjun_81@126.com

Association between polymorphism of NDUT15 gene and leucopenia induced by 6-mercaptopurine in children with acute lymphoblastic leukemia

 LIU Jingjun, WANG Xuexia   

  1. Sanxian Center Hospital, Heze 274300, Shandong, China
  • Received:2018-02-15 Online:2018-02-15 Published:2018-02-15

摘要: 目的 探讨我国东部地区汉族人群中NDUT15基因SNP位点(rs116855232)的多态性与儿童急性淋巴细胞 白血病(ALL)化疗药物巯基嘌呤(6-MP)引起的白细胞减少症的相关性。方法 选取133例确诊为ALL并接受正规治疗 的患儿作为研究对象,根据化疗后白细胞减少程度分为白细胞减少组(WBC≤2.0×109/L)及对照组(WBC>2.0×109/L)。 利用限制性片段长度多态性分析(PCR-RFLP)检测该SNP位点的多态性分布;并收集治疗初期以及维持治疗阶段患儿的 临床资料。结果 133例ALL患儿中TT基因型4例,CT型31例,CC型98例。在治疗初期及维持治疗阶段白细胞减少组 及对照组基因型频率分布差异有统计学意义(P均<0.05)。 在维持及加强治疗阶段TT基因型患儿6-MP用量显著低于其 他基因型(P<0.05)。 结论 NDUT15基因多态性与6-MP药物诱导的白细胞减少症相关,相对于其他基因型,TT基因型 患儿的6-MP用量应减少,以避免并发症发生。

Abstract: Objective To investigate the association between single nucleotide polymorphisms (SNP) (rs116855232 in NDUT15 gene) and acute lymphocytic leukemia (ALL) in Chinese Han children. Methods A total of 133 children with ALL were recruited in this study, and were divided into two groups based on white blood cell count (WBC) as of WBC≤2.0×109 group and WBC>2.0×109 group. Genotypes of each patient were detected using PCR-RFLP. WBC, initial and average dose of 6-mercaptopurine (6-MP) were collected. Results In this study, we found 4 patients with TT genotype, 31 patients with CT genotype and 98 patients with CC genotype; and there is a difference in genotypes between the two groups in initial stage (P=0.007) and in maintenance therapy stage (P=0.005). In maintenance therapy stage, patients with TT genotype received a lower dose of 6-MP than that for patients with other genotypes (P<0.01). Conclusions The polymorphism of rs116855232 in NDUT15 gene was associated with leucopenia induced by 6-mercaptopurine in children with ALL, and patients with TT genotype were suggested to use a lower dose of 6-MP to avoided serious leucopenia.