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Common copy number variations in fifty radiosensitive cell lines

机译:五十种放射敏感性细胞系的常见拷贝数变异

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Hypersensitivity to radiation exposure is a major challenge to radiotherapy in the treatment of cancer patients. Copy number variations (CNVs) are believed to identify genomic regions of functional significance for radiosensitivity (RS) but have yet to be systematically investigated. We used Affymetrix 6.0 SNP arrays to survey common CNVs in a cohort of 50 radiosensitive lymphoblastoid cell lines (RS-LCLs) derived from patients with undiagnosed diseases. A total of 317 CNVs that were present in at least 10% of the studied cell lines were identified. Three hundred and eight CNVs overlapped with polymorphic CNVs, 13 of which were significantly enriched in the RS-LCLs compared to the reference. The remaining 9 CNVs were novel. The majority of these enriched and novel CNVs were chromosomal gains. The dominance of the chromosomal gains over losses is inconsistent with the traditional concept of molecular basis of RS and suggests more complex genetic mechanisms for RS.
机译:放射线过敏是癌症患者放射治疗的主要挑战。拷贝数变异(CNV)被认为可以鉴定对放射敏感性(RS)具有功能重要性的基因组区域,但尚未进行系统的研究。我们使用Affymetrix 6.0 SNP阵列来调查来自未诊断疾病患者的50个放射敏感性淋巴母细胞样细胞系(RS-LCL)队列中的常见CNV。在至少10%的研究细胞系中共鉴定出317种CNV。 308个CNV与多态CNV重叠,与参考相比,其中13个在RS-LCL中显着富集。其余的9辆CNV是新颖的。这些富集和新颖的CNV多数是染色体获得的。染色体增益高于损失的优势与传统的RS分子基础概念不一致,并暗示了RS的更为复杂的遗传机制。

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