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Nature. 1986;322(6074):73-7. doi: 10.1038/322073a0.
Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder for which the biochemical defect is as yet unknown. Recently, two cloned segments of human X-chromosome DNA have been described which detect structural alterations within or near the genetic locus responsible for the disorder. Both of these cloned segments were described as tightly linked to the locus and were capable of detecting deletions in the DNA of boys affected with DMD. In an attempt to determine more precisely the occurrence of these deletions within a large population of DMD patients and the accuracy of one of the segments, DXS164 (pERT87), in determining the inheritance of the DMD X chromosome, the subclones 1, 8 and 15 were made available to many investigators throughout the world. Here we describe the combined results of more than 20 research laboratories with respect to the occurrence of deletions at the DXS164 locus in DNA samples isolated from patients with DMD and Becker muscular dystrophy (BMD). The results indicate that the DXS164 locus apparently recombines with DMD 5% of the time, but is probably located between independent sites of mutation which yield DMD. The breakpoints of some deletions are delineated within the DXS164 locus, and it is evident that the deletions at the DMD locus are frequent and extremely large.
杜兴氏肌营养不良症（DMD）是一种X连锁隐性遗传病，其生化缺陷尚不清楚。最近，有人描述了人类X染色体DNA的两个克隆片段，它们能检测出导致该疾病的基因座内部或附近的结构改变。这两个克隆片段都被描述为与该基因座紧密连锁，并且能够检测出患DMD男孩DNA中的缺失。为了更精确地确定这些缺失在大量DMD患者中的发生率，以及其中一个片段DXS164（pERT87）在确定DMD X染色体遗传方面的准确性，克隆亚片段1、8和15被提供给世界各地的许多研究人员。在此，我们描述了20多个研究实验室关于从DMD和贝克氏肌营养不良症（BMD）患者分离的DNA样本中DXS164基因座缺失发生率的综合结果。结果表明，DXS164基因座显然有5%的时间与DMD发生重组，但可能位于产生DMD的独立突变位点之间。一些缺失的断点在DXS164基因座内被描绘出来，很明显，DMD基因座的缺失很频繁且非常大。
