Background and objective Loss of heterozygosity (LOH) and Copy number copy number variation (CNV) of DNA sequences is a common feature of cancer genomes, which is thought to be linked to tumorigenesis and progression.
背景和目的DNA序列的杂合性缺失(LOH)和拷贝数变异(CNV)普遍存在于肿瘤基因组,并认为与肿瘤发生发展相关。
参考来源 - 利用单核苷酸多态性芯片全基因组检测人大细胞肺癌细胞株的杂合性缺失和拷贝数变异Finally a newly defined genetic variation, copy number variation, was briefly introduced. This paper also summarized the shortcomings of current genome-wide asso-ciation studies and perspectives of its future.
最后介绍了人类基因组拷贝数变异的研究进展,总结了人类全基因组关联研究所取得成就和存在的问题,并对全基因组关联研究未来的研究重点和要解决的问题进行了展望。
参考来源 - 复杂疾病全基因组关联研究进展——研究设计和遗传标记·2,447,543篇论文数据，部分数据来源于NoteExpress
Recently geneticists have taken a closer look at a genetic aberration previously considered rare: copy number variation (CNV).
最近遗传学家对以前被认为很罕见的遗传变异：拷贝数变异（copy number variation ，CNV）进行了更细致的研究。
"The copy number variation that researchers had seen before was simply the tip of the iceberg, while the bulk lay submerged, undetected," said Dr Hurles.
“研究人员以前看到的复制数量变化只是冰山一角，而其绝大部分都还未浮出水面，未被发现，”赫尔斯博士说。
DEFB gene products are small antimicrobial proinflammatory peptides, and copy number variation (CNV) could reasonably influence susceptibility to infection and inflammation.
DEFB基因产物是小分子抗菌肽，且拷贝数变化(CNV)可显著影响易感性及炎症反应。
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