重复元件对疾病相关拷贝数变异（CNV）的主要影响。
Major influence of repetitive elements on disease-associated copy number variants (CNVs).
作者信息
Cardoso Ana R, Oliveira Manuela, Amorim Antonio, Azevedo Luisa
机构信息
Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Rua Alfredo Allen 208, 4200-135, Porto, Portugal.
IPATIMUP-Institute of Molecular Pathology and Immunology, University of Porto, Rua Júlio Amaral de Carvalho 45, 4200-135, Porto, Portugal.
出版信息
Hum Genomics. 2016 Sep 23;10(1):30. doi: 10.1186/s40246-016-0088-9.
Copy number variants (CNVs) are important contributors to the human pathogenic genetic diversity as demonstrated by a number of cases reported in the literature. The high homology between repetitive elements may guide genomic stability which will give rise to CNVs either by non-allelic homologous recombination (NAHR) or non-homologous end joining (NHEJ). Here, we present a short guide based on previously documented cases of disease-associated CNVs in order to provide a general view on the impact of repeated elements on the stability of the genomic sequence and consequently in the origin of the human pathogenic variome.
拷贝数变异（CNV）是人类致病基因多样性的重要贡献因素，文献中报道的许多病例都证明了这一点。重复元件之间的高度同源性可能会指导基因组稳定性，这将通过非等位基因同源重组（NAHR）或非同源末端连接（NHEJ）产生CNV。在此，我们基于先前记录的与疾病相关的CNV病例，提供一份简短指南，以便就重复元件对基因组序列稳定性的影响以及因此对人类致病变异组起源的影响给出一个总体看法。
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