摘要
神经母细胞瘤是常见的儿童实体瘤,占儿童肿瘤相关死因的12%。近年全基因组关联研究显示,BARD1单核苷酸多态性在神经母细胞瘤的发生发展中起重要作用。BARD1的功能可分为BRCA1依赖性和BRCA1非依赖性。BARD1-BRCA1二聚体具有泛素化酶、调节转录及DNA修复的作用。BARD1最重要的剪切变异体为BARD1β,与高危型神经母细胞瘤的发生、发展有一定相关性。
Neuroblastoma,one of the most common solid tumors in childhood,accounts for approximately 12%of childhood cancer mortality. Recently genome-wide association studies（ GWAS） demonstrated that single nucleotide polymorphism（ SNP） alleles were associated with NB. BARD1 can be function with RCA1 as a heterodimer or by itself. BARD1-BRCA1 heterodimer has ubiquitinligase activity and can regulate transcription and DNA repair. One of the BARD1 splice variants,BARD1β,correlates with the oncogene and progression of high-risk neuroblastoma.
出处
《标记免疫分析与临床》
CAS
2015年第8期807-810,共4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
