| 摘要: |
| ［摘要］ 目的 研究中国儿童急性淋巴细胞白血病（ALL）患儿GATA3基因单核苷酸多态性（SNP）分布特点及其对预后的影响。方法 利用TaqMan探针荧光定量PCR法检测上海儿童医学中心2009-05～2014-12收治的678例ALL患者GATA3基因rs3781093和rs3824662两个SNP位点，分析其与早期治疗反应、预后的关系。结果 rs3781093位点C的等位基因频率为38.8%，基因型C/C监测第35天微小残留病灶阳性（D35-MRD≥0.01%）比例更高（C/C vs T/C vs T/T，47.9% vs 40.5% vs 33.5%，P=0.037），5年无复发生存率(RFS)相对较低但差异无统计学意义［C/C vs T/C vs T/T，(69.2±4.8)% vs (75.6±2.6)% vs (77.6±2.7)%，P=0.276］。rs3824662位点A的等位基因频率为38.3%，与前者存在高度连锁不平衡，基因型A/A早期治疗反应更差（D35-MRD阳性：A/A vs A/C vs C/C，50.0% vs 39.8% vs 33.7%，P=0.023），但RFS差异无统计学意义（P>0.05）。结论 中国ALL患儿的GATA3基因rs3781093和rs3824662之间存在高度连锁不平衡，rs3781093位点的C/C基因型和rs3824662位点的A/A基因型与早期治疗反应不佳相关，但未显著影响远期无复发生存率。 |
| 关键词: 转录因子GATA结合蛋白3 单核苷酸多态性 儿童 急性淋巴细胞白血病 |
| DOI：10.3969/j.issn.1674-3806.2021.02.01 |
| 分类号:R 733.71 |
| 基金项目:国家自然科学基金资助项目（编号：81670174） |
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| A study on the relationship between single nucleotide polymorphism of GATA3 gene and prognosis in Chinese children with acute lymphoblastic leukemia |
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CHEN Xiao-xiao, WANG Xiang, LI Ben-shang, et al.
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Department of Hematology and Oncology, Shanghai Children′s Medical Center, School of Medicine, Shanghai Jiao Tong University, National Health Committee Key Laboratory of Pediatric Hematology & Oncology, Shanghai 200127, China
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| Abstract: |
| ［Abstract］ Objective To study the distribution characteristics of single nucleotide polymorphism(SNP) of GATA3 gene in Chinese children with acute lymphoblastic leukemia(ALL) and their effects on the patients′ prognoses. Methods Two SNP loci of GATA3 gene rs3781093 and rs3824662 in 678 ALL patients admitted to Shanghai Children′s Medical Center from May 2009 to December 2014 were detected using TaqMan probe real-time fluorescence quantitative polymerase chain reaction(PCR), and the relationship between the two SNP loci and the early treatment response and the prognoses of the patients was analyzed. Results The allele frequency of rs3781093 locus C was 38.8%. The positive rate of minimal residual lesions(D35-MRD≥0.01%) was higher in the genotype C/C on the 35th day of monitoring(C/C vs T/C vs T/T, 47.9% vs 40.5% vs 33.5%, P=0.037), and the 5-year relapse-free survival(RFS) in the genotype C/C was relatively low but there was no significant difference［C/C vs T/C vs T/T, (69.2±4.8)% vs (75.6±2.6)% vs (77.6±2.7)%, P=0.276］.The allele frequency of rs3824662 locus A was 38.3%, which had strong linkage disequilibrium with the former(rs3781093), and the early treatment response of genotype A/A was worse(D35-MRD positive: A/A vs A/C vs C/C, 50.0% vs 39.8% vs 33.7%, P=0.023), but there was no significant difference in RFS(P>0.05). Conclusion There is strong linkage disequilibrium between the GATA3 gene rs3781093 and rs3824662 in Chinese children with ALL. The genotype C/C at rs3781093 locus and the genotype A/A at rs3824662 locus are associated with poor early treatment response, but do not significantly affect the long-term RFS. |
| Key words: GATA binding protein 3(GATA3) Single nucleotide polymorphism(SNP) Children Acute lymphoblastic leukemia(ALL) |
