Hart K A, Hodgson S, Walker A, Cole C G, Johnson L, Dubowitz V, Bobrow M
Hum Genet. 1987 Mar;75(3):281-5. doi: 10.1007/BF00281075.
The DNA of 33 patients diagnosed as suffering from Becker muscular dystrophy (BMD) has been probed with cloned DNA sequences from Xp21, known to reveal DNA deletions in patients suffering from the more severe Duchenne muscular dystrophy (DMD). Two BMD cases showed clear deletions. A third case gave aberrant band sizes, which further analysis showed to be caused by a small deletion. This suggests that deletions in DXS164 occur approximately as frequently in BMD as they do in DMD. Of the two cases showing large deletions, one is at the severe end of the Becker clinical spectrum, whilst the other is a classical Becker-type dystrophy. The fact that loci defined by probes commonly deleted in classical DMD patients are also deleted in BMD patients of varying severity is strong additional evidence that these disorders are allelic, and further justifies the use of probes with defined linkage relationships to DMD also being used for counselling in BMD families.
已用来自Xp21的克隆DNA序列对33例被诊断患有贝克型肌营养不良（BMD）的患者的DNA进行检测，已知该序列可揭示患有更严重的杜氏肌营养不良（DMD）患者的DNA缺失情况。2例BMD患者显示出明显的缺失。第3例患者的条带大小异常，进一步分析表明这是由一个小的缺失导致的。这表明DXS164中的缺失在BMD患者中出现的频率与在DMD患者中大致相同。在这2例显示出大缺失的患者中，1例处于贝克临床谱的严重一端，而另1例是典型的贝克型肌营养不良。经典DMD患者中常见缺失的探针所定义的基因座在不同严重程度的BMD患者中也发生缺失，这一事实是这些疾病为等位基因的有力额外证据，进一步证明了具有与DMD明确连锁关系的探针也可用于BMD家族的遗传咨询。
