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Instability of short tandem repeats (microsatellites) in human cancers.人类癌症中短串联重复序列(微卫星)的不稳定性。
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北美黑腹果蝇种群中的微卫星变异。

Microsatellite variation in North American populations of Drosophila melanogaster.

作者信息

Goldstein D B, Clark A G

机构信息

Department of Biology, Pennsylvania State University, University Park 16802, USA.

出版信息

Nucleic Acids Res. 1995 Oct 11;23(19):3882-6. doi: 10.1093/nar/23.19.3882.

DOI:10.1093/nar/23.19.3882
PMID:7479031
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC307305/
Abstract

Computer database searching for microsatellites can be particularly effective for organisms like Drosophila melanogaster for which there are extensive sequence data. Here we demonstrate that 17 out of 18 such microsatellites are also highly polymorphic in natural populations of Drosophila, and that this variation is easily scorable with PCR followed by electrophoresis on high-resolution agarose. This form of variation is likely to be of great value in studies of the genomic distribution of polymorphism, population structure, the relation between intraspecific polymorphism and interspecific divergence and the mutation rate and pattern of mutations of microsatellites. In this preliminary survey of 15 lines, we find that the variance in repeat count is most strongly correlated with the maximum count, that perfect repeats are significantly more variable than imperfect repeats and that repeats which are split by an imperfection have unexpectedly low variance given the size of the perfectly repeated portion.

摘要

对于像黑腹果蝇这样有大量序列数据的生物来说,利用计算机数据库搜索微卫星可能会特别有效。我们在此证明,18个这样的微卫星中有17个在果蝇自然种群中也具有高度多态性,并且这种变异通过聚合酶链式反应(PCR),然后在高分辨率琼脂糖上进行电泳很容易计分。这种变异形式在多态性的基因组分布、种群结构、种内多态性与种间差异的关系以及微卫星的突变率和突变模式的研究中可能具有很大价值。在对15个品系的初步调查中,我们发现重复次数的方差与最大次数的相关性最强,完美重复比不完美重复的变异性显著更高,并且被一个不完美处隔开的重复,鉴于完美重复部分的大小,其方差出人意料地低。