在1q21.1的拷贝数变化与神经母细胞瘤有关
Sharon J Diskin1, Cuiping Hou, Joseph T Glessner
1Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, USA.
Nature
|June 19, 2009
概括
常见的副本数变异 (CNVs) 与神经母细胞瘤风险有关. 染色体1q21.1的一个特定的CNV被确定为这种儿童癌症的遗传风险因素.
科学领域:
- 遗传学 是一个遗传学.
- 癌症研究 癌症研究
- 人类分子遗传学
背景情况:
- 副本数变异 (CNVs) 有助于遗传多样性,但它们在疾病易感性,特别是人类癌症中的作用尚未完全理解.
- 神经母细胞瘤是一种儿童癌症,已知受单核酸多态变异影响的易感性.
研究的目的:
- 调查常见副本数变异 (CNVs) 与对神经母细胞瘤的敏感性之间的关联.
- 通过全基因组关联研究来确定影响神经母细胞瘤风险的特定CNV.
主要方法:
- 在846例神经母细胞瘤病例和803例对照中对CNV进行全基因组关联研究.
- 在两个独立的集合中复制发现 (595个病例,3,357个对照).
- 使用定量PCR,FISH,瘤样本分析和父子三组遗传性评估进行验证.
主要成果:
- 在发现和复制集中,染色体1q21.1的常见CNV与神经母细胞瘤风险显著相关.
- 这种CNV被验证并确认是遗传的.
- 在CNV中发现了一种新型的转录,NBPF23,在胎儿神经组织中表现出偏好的表达,与CNV状态相关.
结论:
- 在1q21.1的遗传拷贝数变化与神经母细胞瘤易感性有关.
- 新发现的NBPF23基因在这种儿童癌症的早期瘤发生中起作用.
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