WU XueMei, XIAO HuaSheng
Center of Functional Genomics, Key Laboratory of System Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China.
Sci China C Life Sci. 2009 Jun;52(6):560-7. doi: 10.1007/s11427-009-0078-4. Epub 2009 Jun 26.
The emerging of high-throughput and high-resolution genomic technologies led to the detection of submicroscopic variants ranging from 1 kb to 3 Mb in the human genome. These variants include copy number variations (CNVs), inversions, insertions, deletions and other complex rearrangements of DNA sequences. This paper briefly reviews the commonly used technologies to discover both genomic structural variants and their potential influences. Particularly, we highlight the array-based, PCR-based and sequencing-based assays, including array-based comparative genomic hybridization (aCGH), representational oligonucleotide microarray analysis (ROMA), multiplex amplifiable probe hybridization (MAPH), multiplex ligation-dependent probe amplification (MLPA), paired-end mapping (PEM), and next-generation DNA sequencing technologies. Furthermore, we discuss the limitations and challenges of current assays and give advices on how to make the database of genomic variations more reliable.
高通量和高分辨率基因组技术的出现使得在人类基因组中检测到了范围从1 kb到3 Mb的亚微观变异。这些变异包括拷贝数变异（CNV）、倒位、插入、缺失以及DNA序列的其他复杂重排。本文简要回顾了用于发现基因组结构变异及其潜在影响的常用技术。特别地，我们重点介绍了基于芯片、基于PCR和基于测序的检测方法，包括基于芯片的比较基因组杂交（aCGH）、代表性寡核苷酸微阵列分析（ROMA）、多重可扩增探针杂交（MAPH）、多重连接依赖探针扩增（MLPA）、配对末端映射（PEM）以及新一代DNA测序技术。此外，我们讨论了当前检测方法的局限性和挑战，并就如何使基因组变异数据库更可靠给出了建议。
