Pikó Henriett, Vancsó Viktor, Nagy Bálint, Bán Zoltán, Herczegfalvi Agnes, Karcagi Veronika
National Institute of Environmental Health, Department of Molecular Genetics, Gyali út 2-6, H-1097 Budapest, Hungary.
Neuromuscul Disord. 2009 Feb;19(2):108-12. doi: 10.1016/j.nmd.2008.10.011. Epub 2008 Dec 11.
A comprehensive study of the Hungarian Duchenne/Becker muscular dystrophy (DMD/BMD) families is presented. Deletions in the hot spots regions were identified by multiplex PCR, whereas rare mutations were detected by Southern blot and multiplex ligation-dependent probe amplification (MLPA) techniques. DMD/BMD disease was confirmed and exact deletion borders were determined in 19 out of 135 affected males using multiplex PCR. Additional exons involved as well as rare exon deletions were identified by MLPA in 71 male patients, whereas duplications were observed in seven patients. In two DMD patients, the entire dystrophin gene and adjacent genes were deleted. Out of the 95 female relatives, 41 proved to be carriers, including three manifesting carrier females. Using MLPA method, a large portion of the Hungarian DMD/BMD patients and their female relatives were exactly genotyped. For the first time, the incidence and prevalence of asymptomatic and symptomatic female carriers in Hungary was estimated.
本文介绍了一项对匈牙利杜兴氏/贝克氏肌营养不良症（DMD/BMD）家族的综合研究。通过多重PCR鉴定热点区域的缺失，而通过Southern印迹和多重连接依赖探针扩增（MLPA）技术检测罕见突变。在135名受影响男性中，有19名通过多重PCR确诊为DMD/BMD疾病并确定了精确的缺失边界。通过MLPA在71名男性患者中鉴定出其他涉及的外显子以及罕见的外显子缺失，而在7名患者中观察到重复。在两名DMD患者中，整个肌营养不良蛋白基因和相邻基因被删除。在95名女性亲属中，41名被证明是携带者，包括三名症状性携带者女性。使用MLPA方法，对大部分匈牙利DMD/BMD患者及其女性亲属进行了精确基因分型。首次估计了匈牙利无症状和有症状女性携带者的发病率和患病率。
