Chia N L, Bryce M, Hickman P E, Potter J M, Glasgow N, Koerbin G, Danoy P, Brown M A, Cavanaugh J
ANU Medical School, Australian National University, Canberra, A.C.T., Australia.
Cytogenet Genome Res. 2013;141(1):16-25. doi: 10.1159/000350767. Epub 2013 Apr 26.
Copy number variations (CNVs) as described in the healthy population are purported to contribute significantly to genetic heterogeneity. Recent studies have described CNVs using lymphoblastoid cell lines or by application of specifically developed algorithms to interrogate previously described data. However, the full extent of CNVs remains unclear. Using high-density SNP array, we have undertaken a comprehensive investigation of chromosome 18 for CNV discovery and characterisation of distribution and association with chromosome architecture. We identified 399 CNVs, of which loss represents 98%, 58% are less than 2.5 kb in size and 71% are intergenic. Intronic deletions account for the majority of copy number changes with gene involvement. Furthermore, one-third of CNVs do not have putative breakpoints within repetitive sequences. We conclude that replicative processes, mediated either by repetitive elements or microhomology, account for the majority of CNVs in the healthy population. Genomic instability involving the formation of a non-B structure is demonstrated in one region.
健康人群中所描述的拷贝数变异（CNV）被认为对基因异质性有显著贡献。最近的研究通过淋巴母细胞系或应用专门开发的算法来分析先前描述的数据，从而描述了CNV。然而，CNV的全貌仍不清楚。我们使用高密度SNP阵列，对18号染色体进行了全面研究，以发现CNV并表征其分布以及与染色体结构的关联。我们鉴定出399个CNV，其中缺失占98%，58%的大小小于2.5 kb，71%位于基因间。内含子缺失占涉及基因的拷贝数变化的大部分。此外，三分之一的CNV在重复序列内没有推定的断点。我们得出结论，由重复元件或微同源性介导的复制过程占健康人群中CNV的大部分。在一个区域中证实了涉及非B结构形成的基因组不稳定性。
