McMurray C T
Mayo Foundation and Graduate School, Department of Biochemistry and Molecular Biology, Department of Pharmacology, Molecular Neuroscience Program, 200 First Street, SW, Rochester, MN 55905, USA.
Chromosoma. 1995 Oct;104(1):2-13. doi: 10.1007/BF00352220.
Unstable transmission of repeating segments in genes is now recognized as a new class of mutations causing human disease. Genetic instability observed in disease is termed an "expansion mutation" when the mutation is an increase in the copy number of a repeated unit, commonly a di- or trinucleotide. While the expansion mutation is well characterized in disease, the mechanism by which expansion occurs is not clear. This article focuses on physical properties of expansion at repeating nucleotides that may provide clues to the mechanism. Both biochemical and genetic data indicate that DNA structure is part of the mechanism and the underlying cause for expansion.
基因中重复片段的不稳定传递现在被认为是导致人类疾病的一类新的突变。当突变是重复单元（通常是二核苷酸或三核苷酸）的拷贝数增加时，在疾病中观察到的遗传不稳定性被称为“扩增突变”。虽然扩增突变在疾病中已得到充分表征，但其发生机制尚不清楚。本文重点关注重复核苷酸处扩增的物理特性，这些特性可能为该机制提供线索。生化和遗传数据均表明，DNA结构是该机制的一部分，也是扩增的根本原因。
