ANALYSIS OF DELETIONS IN DNA FROM PATIENTS WITH BECKER AND DUCHENNE MUSCULAR-DYSTROPHY
ANALYSIS OF DELETIONS IN DNA FROM PATIENTS WITH BECKER AND DUCHENNE MUSCULAR-DYSTROPHY
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DOI：
10.1038/322073a0
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发表时间：
1986-07-03
期刊：
影响因子：
64.8
通讯作者：
FRANCKE, U
中科院分区：
文献类型：
--
作者：
KUNKEL, LM;HEJTMANCIK, JF;FRANCKE, U
Duchenne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，人类X染色体DNA的两个克隆片段被描述为检测导致DMD的遗传位点1，2内部或附近的结构变化。这两个克隆片段都被描述为与该基因紧密连锁，并能够检测到患有DMD的男孩DNA中的缺失。为了更准确地确定这些缺失在大量DMD患者中的发生情况，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，世界各地的许多研究人员提供了亚克隆1、8和15。在这里，我们描述了20多个研究实验室关于从DMD和Becker肌营养不良(BMD)患者分离的DNA样本中DXS164基因座缺失的发生情况的综合结果。结果表明，DXS164基因座与DMD的重组率为5%，但可能位于产生DMD的独立突变位点之间。在DXS164基因座上发现了一些缺失的断裂点，DMD基因座的缺失非常频繁且非常大。
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 disorder1,2. 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.