Suh Mi Ri, Lee Kyung A, Kim Eun Young, Jung Jiho, Choi Won Ah, Kang Seong Woong
Department of Rehabilitation Medicine, Gangnam Severance Hospital and Rehabilitation Institute of Neuromuscular Disease, Yonsei University College of Medicine, Seoul, Korea.
Department of Laboratory Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Yonsei Med J. 2017 May;58(3):613-618. doi: 10.3349/ymj.2017.58.3.613.
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are similar genetic disorders whose patterns of mutation and disease phenotypes might be expected to show differences among different countries. We analyzed multiplex ligation-dependent probe amplification (MLPA) data in a large number of Korean patients with DMD/BMD.
We obtained 130 positive MLPA results (86 DMD, 27 BMD, and 17 female carriers) from 272 candidates (237 clinically suspected patients and 35 possible female carriers) who took part in this study. We analyzed the mutation patterns among 113 patients diagnosed by MLPA and calculated deletion/duplication percentages from a total of 128 patients, including 15 patients who were diagnosed using methods other than MLPA. We also analyzed hot spot locations among the 130 MLPA-positive results.
Most mutations were detected in a central hot spot region between exons 44 and 55 (80 samples, 60.6%). Unlike previous reports, a second frequently observed hot spot near the 5'-end was not distinctive. MLPA detected deletions in specific exons in 92 patients with DMD/BMD (71.8%) and duplications in 21 patients (16.4%).
Our MLPA study of a large number of Korean patients with DMD/BMD identified the most frequent mutation hot spot, as well as a unique hot spot pattern. DMD gene mutation patterns do not appear to show significant ethnic differences.
杜氏肌营养不良症（DMD）和贝克肌营养不良症（BMD）是相似的遗传性疾病，其突变模式和疾病表型在不同国家可能存在差异。我们分析了大量韩国DMD/BMD患者的多重连接依赖探针扩增（MLPA）数据。
我们从参与本研究的272名候选者（237名临床疑似患者和35名可能的女性携带者）中获得了130份阳性MLPA结果（86例DMD、27例BMD和17例女性携带者）。我们分析了113例经MLPA诊断的患者的突变模式，并计算了包括15例采用MLPA以外方法诊断的患者在内的128例患者的缺失/重复百分比。我们还分析了130份MLPA阳性结果中的热点位置。
大多数突变发生在外显子44至55之间的中央热点区域（80个样本，60.6%）。与之前的报道不同，5'端附近第二个经常观察到的热点并不明显。MLPA在92例DMD/BMD患者（71.8%）的特定外显子中检测到缺失，在21例患者（16.4%）中检测到重复。
我们对大量韩国DMD/BMD患者的MLPA研究确定了最常见的突变热点以及独特的热点模式。DMD基因突变模式似乎没有明显的种族差异。
