目的 探讨我国东部地区汉族人群中NDUT15基因SNP位点(rs 116855232)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.%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>2.0×109group. 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.
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