Legendre Matthieu, Verstrepen Kevin J
FAS Center for Systems Biology, Harvard University, Cambridge, MA 02138, USA.
CSH Protoc. 2008 Jan 1;2008:pdb.ip50. doi: 10.1101/pdb.ip50.
INTRODUCTIONTandem repeats (satellite repeats) are short stretches of DNA that are repeated head-to-tail. Tandem repeats mutate at rates that are between 100- and 10,000-fold greater than normal (point) mutation rates in the rest of the genome. As a consequence of these frequent mutation events, "homologous" tandem repeats in closely related species, strains, or even individuals in the same population often contain a different number of repeat units. This heterogeneity is extensively used in today's molecular forensics and genotyping research. However, while all repeats are unstable, precise mutation rates vary greatly between different repeat loci. This implies that not all tandem repeats are suited as markers for forensics, genotyping, or putative hypervariable functional modules. The SERV ("Sequence-Based Estimation of Repeats Variability") applet enables finding repeats in DNA sequences and estimating their variability. Hence, it can be used to select repeats that are suitable markers for genotyping or interesting candidates for functional studies.
引言
串联重复序列(卫星重复序列)是短的DNA片段,它们首尾相连重复排列。串联重复序列的突变率比基因组其他部分的正常(点)突变率高100至10000倍。由于这些频繁的突变事件,密切相关物种、菌株甚至同一群体中的个体之间的“同源”串联重复序列通常包含不同数量的重复单元。这种异质性在当今的分子法医学和基因分型研究中被广泛应用。然而,虽然所有重复序列都是不稳定的,但不同重复位点的精确突变率差异很大。这意味着并非所有串联重复序列都适合作为法医学、基因分型或假定的高变功能模块的标记。SERV(“基于序列的重复序列变异性估计”)小程序能够在DNA序列中找到重复序列并估计其变异性。因此,它可用于选择适合作为基因分型标记的重复序列或作为功能研究有趣候选对象的重复序列。