Richards R I, Sutherland G R
Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, Australia.
Trends Biochem Sci. 1997 Nov;22(11):432-6. doi: 10.1016/s0968-0004(97)01108-0.
Increases in repeat-DNA copy number are the molecular basis of a growing list of human genetic diseases, including fragile X syndrome, myotonic dystrophy, Huntington disease and a form of epilepsy. Repeat-DNA sequences undergo a unique process of dynamic mutation, the common properties of which probably reflect common molecular events. This form of mutation is no longer restricted to trinucleotide repeats, because repeats of different length have been found to undergo expansion.
重复DNA拷贝数的增加是越来越多人类遗传疾病的分子基础，包括脆性X综合征、强直性肌营养不良症、亨廷顿舞蹈症和一种癫痫症。重复DNA序列经历独特的动态突变过程，其共同特性可能反映了共同的分子事件。这种突变形式不再局限于三核苷酸重复序列，因为已发现不同长度的重复序列都会发生扩增。
