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新疆地区急性淋巴细胞白血病患儿核苷酸焦磷酸酶分析
冯杰1,2,王婷婷1,2,张惠兰1,2,姚彤3,李红健1,2
0
((1. 新疆维吾尔自治区人民医院,乌鲁木齐  830001;2. 新疆维吾尔自治区临床药学研究所,乌鲁木齐  830001;3. 北京儿童医院新疆医院,新疆维吾尔自治区儿童医院,乌鲁木齐  830001))
摘要:
目的:分析核苷酸焦磷酸酶 15(NUDT15)基因多态性在新疆维吾尔族、汉族、哈萨克族及蒙古族急性淋巴细胞白血病 (ALL)患儿中的分布情况。 方法:筛选患有 ALL 的新疆地区多民族患儿入组,收集入组患儿临床基线资料。 采集患儿外周静脉 血并提取白细胞,采用荧光染色原位杂交法测定 NUDT15 基因型。 采用 χ2 分析比较我国新疆地区不同民族 ALL 患儿 NUDT15 基因多态性差异。 结果:共纳入 207 例患儿,其中 46. 9%为男性,年龄 1~17(7. 0±4. 0)岁,包括维吾尔族 108 例,汉族 44 例,哈 萨克族 37 例,蒙古族 18 例。 中国新疆哈萨克族与汉族患儿 NUDT15 c. 415C>T TT 基因型频率显著高于维吾尔族患儿(P = 0. 020)。 哈萨克族与汉族患儿 T 等位基因型频率显著高于维吾尔族与蒙古族患儿( P = 0. 008)。 结论:ALL 患儿 NUDT15 c. 415C>T 基因多态性分布在新疆地区不同民族间存在显著差异。
关键词:  NUDT15  民族  基因多态性  急性淋巴细胞白血病  新疆
DOI:doi:10.13407/j.cnki.jpp.1672-108X.2024.07.001
基金项目:新疆维吾尔自治区自然科学基金面上项目,编号 2022D01A110;新疆维吾尔自治区药学会科研基金资助项目,编号 YXH202109。
Analysis of Nucleotide Pyrophosphatase 15 Gene Polymorphism in Children with Acute Lymphoblastic Leukemia in Xinjiang
Feng Jie1,2 , Wang Tingting1,2 , Zhang Huilan1,2 , Yao Tong3 , Li Hongjian1,2
(( 1. People’ s Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830001, China; 2. Institute of Clinical Pharmacy of Uygur Autonomous Region, Urumqi 830001, China; 3. Xinjiang Hospital of Beijing Children’ s Hospital, Children’ s Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830001, China))
Abstract:
Objective: To analyze the distribution of nucleotide pyrophosphatase 15 ( NUDT15 ) gene in children with acute lymphoblastic leukemia (ALL) from Uyghur, Han, Kazakh, and Mongolian ethnic groups in Xinjiang. Methods: Children with ALL from various ethnic groups in Xinjiang were extracted. Clinical baseline data of enrolled children were collected. Peripheral venous blood was collected and white blood cells were extracted. The NUDT15 genotype was determined by fluorescence in situ hybridization. Chi- square analysis was used to compare the differences of NUDT15 gene polymorphism in children with ALL from different ethnic groups in Xinjiang. Results: A total of 207 children were enrolled, of whom 46. 9% were male, aged from 1 to 17 (7. 0±4. 0) years, including 108 Uyghur, 37 Kazakh, 44 Han, and 18 Mongolian children. The frequency of NUDT15 c. 415C>T TT genotype in Kazakh and Han children in Xinjiang was significantly higher than that in Uyghur children (P = 0. 020). The frequency of T allele in Kazakh and Han children was significantly higher than that in Uyghur and Mongolian children (P = 0. 008). Conclusion: The distribution of NUDT15 c. 415C>T gene polymorphism in children with ALL differed significantly among different ethnic groups.
Key words:  NUDT15  ethnic groups  gene polymorphism  acute lymphoblastic leukemia  Xinjiang

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