【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χ~2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。更多还原

【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.更多还原