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Nucleic Acids Res. 1996 Jul 15;24(14):2835-40. doi: 10.1093/nar/24.14.2835.
2
Mismatched nucleotides may facilitate expansion of trinucleotide repeats in genetic diseases.错配的核苷酸可能会促进遗传性疾病中三核苷酸重复序列的扩增。
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Enzymatic amplification of synthetic oligodeoxyribonucleotides: implications for triplet repeat expansions in the human genome.合成寡脱氧核糖核苷酸的酶促扩增：对人类基因组中三联体重复序列扩增的影响。
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In vitro expansion of mammalian telomere repeats by DNA polymerase alpha-primase.通过DNA聚合酶α-引发酶在体外扩增哺乳动物端粒重复序列。
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8
Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism.人类脆性X（CGG）(n)三联体重复序列阵列在DNA代谢方面存在缺陷的酿酒酵母中的稳定性
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9
Cloned human FMR1 trinucleotide repeats exhibit a length- and orientation-dependent instability suggestive of in vivo lagging strand secondary structure.克隆的人类FMR1三核苷酸重复序列表现出长度和方向依赖性的不稳定性，提示体内后随链二级结构的存在。
Nucleic Acids Res. 1998 May 15;26(10):2353-8. doi: 10.1093/nar/26.10.2353.
10
Mismatched nucleotides may facilitate expansion of trinucleotide repeats in genetic diseases.错配的核苷酸可能会促进遗传性疾病中三核苷酸重复序列的扩增。
Nucleic Acids Res. 1998 Apr 15;26(8):1980-4. doi: 10.1093/nar/26.8.1980.

本文引用的文献

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GGC:GCC重复序列的体外扩增：确定优先扩增链

In vitro expansion of GGC:GCC repeats: identification of the preferred strand of expansion.

作者信息

Ji J, Clegg N J, Peterson K R, Jackson A L, Laird C D, Loeb L A

机构信息

Joseph Gottstein Memorial Cancer Research Laboratory, Department of Pathology and Biochemistry, University of Washington, Seattle 98195, USA.

出版信息

Nucleic Acids Res. 1996 Jul 15;24(14):2835-40. doi: 10.1093/nar/24.14.2835.

DOI:10.1093/nar/24.14.2835
PMID:8759019
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC146016/
Abstract

The human fragile-X syndrome, a major cause of inherited mental retardation, is associated with expansion of the trinucleotide repeat GGC:GCC. Repetitive sequences in DNA are subject to slippage during catalysis by DNA polymerases. We characterized the extent of slippage of synthetic GGC:GCC repeats by various DNA polymerases: Taq DNA polymerase, Klenow fragment of DNA polymerase I, DNA Sequence, DNA polymerase-alpha and polymerase-beta, as well as HIV reverse transcriptase. All of these enzymes were found to expand GGC:GCC repeats, with the most extensive expansion exhibited by Taq DNA polymerase. Starting with a template and primer, each 15 nucleotides (nt) in length, the product of one round of synthesis by Taq polymerase is as long as 250 nt. Sequence analysis of cloned DNA fragments expanded by Taq polymerase indicates that expansion involves multiple triplet additions and that it is asymmetric. The asymmetric distribution of terminal nucleotides in the expanded product is consistent with active expansion of the GCC strand and passive additions onto the GGC strand. The preferential elongation and expansion of the GCC strand was confirmed in studies utilizing longer repeats within a single-stranded M-13 template.

摘要

人类脆性X综合征是遗传性智力迟钝的主要病因，与三核苷酸重复序列GGC:GCC的扩增有关。DNA中的重复序列在DNA聚合酶催化过程中容易发生滑动。我们对各种DNA聚合酶（Taq DNA聚合酶、DNA聚合酶I的Klenow片段、DNA序列、DNA聚合酶α和β以及HIV逆转录酶）催化合成的GGC:GCC重复序列的滑动程度进行了表征。发现所有这些酶都会扩增GGC:GCC重复序列，其中Taq DNA聚合酶表现出最广泛的扩增。以长度均为15个核苷酸（nt）的模板和引物开始，Taq聚合酶一轮合成的产物长达250 nt。对Taq聚合酶扩增的克隆DNA片段进行序列分析表明，扩增涉及多个三联体添加，并且是不对称的。扩增产物中末端核苷酸的不对称分布与GCC链的主动扩增以及GGC链上的被动添加一致。在利用单链M-13模板中较长重复序列的研究中证实了GCC链的优先延伸和扩增。