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DNA反向重复序列与人类疾病

DNA inverted repeats and human disease.

作者信息

Bissler J J

机构信息

The Children's Hospital Research Foundation, Cincinnati, Ohio 45229-3039, USA.

出版信息

Front Biosci. 1998 Mar 27;3:d408-18. doi: 10.2741/a284.

Abstract

Inverted repeats are important elements in the human genome. Because of their nature, inverted repeats can engage in intra- and intermolecular basepairing. The ability to adopt hairpin and cruciform secondary structures is associated with frameshift mutations. These sequences also can be utilized by the polymerase allowing both intra- and interstrand switching events. Such mechanisms can involve imperfect inverted repeats and lead to additional mutations. Several human genetic diseases illustrate inverted repeat mediated mutagenesis.

摘要

反向重复序列是人类基因组中的重要元件。由于其特性,反向重复序列可参与分子内和分子间的碱基配对。形成发夹和十字形二级结构的能力与移码突变有关。这些序列也可被聚合酶利用,允许发生链内和链间的转换事件。此类机制可能涉及不完全反向重复序列,并导致额外的突变。几种人类遗传疾病说明了反向重复序列介导的诱变作用。

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