BARD1单核苷酸多态性与汉族儿童神经母细胞瘤相关性的研究  

Association of Single Nucleotide Polymorphisms of BARD1 Gene with Neuroblastoma in Ethnic Han Chinese Population

作　　者：张晓絮 鲁洁[2] 金雅琼[2] 初平 韩书婧[2] 郭永丽[2] 倪鑫[1] 

机构地区：[1]首都医科大学附属北京儿童医院耳鼻咽喉头颈外科,北京100045 [2]首都医科大学附属北京儿童医院北京市儿科研究所儿科学国家重点学科儿童耳鼻喉头颈外科疾病北京市重点实验室,北京100045

出　　处：《标记免疫分析与临床》2016年第2期227-232,共6页Labeled Immunoassays and Clinical Medicine

基　　金：国家自然科学基金<儿科疾病及其药物遗传学特点的研究>(81342002);国家自然科学基金<功能性遗传变异调控BARD1/BRCA1泛素化通路的机制及与儿童神经母细胞瘤的关联研究>(31401067)资助

摘　　要：目的探讨BARD1单核苷酸多态性与汉族儿童神经母细胞瘤的相关性。方法采用病例对照研究,收集242例汉族神经母细胞瘤患儿及301例汉族健康儿童的外周血,通过PCR方法扩增目的 DNA,应用Sequenom massarray对所扩增的DNA进行基因分型。以"2检验及logistics分析比较不同组基因型与神经母细胞瘤的关系。结果 BARD1的21个标签SNPs位点均符合Hardy-Weinberg平衡,BARD1的21个SNPs等位基因频率在患者组与对照组之间差异均无统计学意义(P>0.05)。结论未发现BARD1单核苷酸多态性与汉族儿童神经母细胞瘤有相关性。Objective To assess the association between BARD1 gene polymorphisms and neuroblastoma（ NB） in Han Chinese population. Methods A case-control study was carried out. A total of 242 NB patients and 301 controls with matched gender were recruited. Peripheral blood samples were obtained from all subjects. Following extraction,target DNA was amplified with PCR and genotyped with a sequenom massarray method. The association between 21 tagging SNPs of BARD1 gene and NB was assessed. Results The genotype frequencies of the 21 SNPs were all in Hardy-Weinberg equilibrium. No significant difference has been found in the frequencies of the 21 SNPs of BARD1 between the two groups（ P 〉 0. 05）. Conclusion No association has been found between polymorphisms of the 21 tagging SNPs loci of BARD1 gene and NB in the selected Han Chinese population.

关 键 词：BARD1 单核苷酸多态性 神经母细胞瘤 儿童 

分 类 号：R739.4[医药卫生—肿瘤]