Robinson D O, Bunyan D J, Gabb H A, Temple I K, Yau S C
Wessex Regional Genetics Laboratory, Salisbury District Hospital, UK.
Hum Genet. 1997 May;99(5):658-62. doi: 10.1007/s004390050424.
A case of Duchenne muscular dystrophy is described with an unusual mutation consisting of a 17-bp deletion within exon 47 of the dystrophin gene. The sequences on either side of the deletion have a high degree of intrastrand base complementarity. It is hypothesised that the mechanism generating the deletion may have been the formation of hairpin loop structure in a single strand of DNA followed by enzymatic degradation at unpaired regions within the loop.
描述了一例杜氏肌营养不良症病例，其存在一种不寻常的突变，即肌营养不良蛋白基因第47外显子内有一个17碱基对的缺失。缺失两侧的序列具有高度的链内碱基互补性。据推测，产生该缺失的机制可能是单链DNA中形成发夹环结构，随后环内未配对区域发生酶促降解。
