Bellone E, Schenone A, Mancardi G, Nicholson G A, Abbruzzese M, Ajmar F, Mandich P
Institute of Biology and Genetics (IBiG), University of Genoa, Italy.
Neurosci Lett. 1996 Jul 26;213(1):71-3. doi: 10.1016/0304-3940(96)12825-1.
We describe pulsed-field gel electrophoresis (PFGE) analysis of 10 unrelated Italian families and seven isolated cases with hereditary neuropathy with liability to pressure palsies (HNPP). Our sample includes patients with different clinical features, varying from classical liability to pressure palsies to ingravescent polyneuropathy. The frequency and the uniformity in size of the 17p11.2 deletion was evaluated by using cosH1 probe from the Charcot-Marie-Tooth neuropathy type 1A (CMT1A)-REP region. The presence of the deletion was demonstrated in all our patients; furthermore, the deletion was of identical size, although our patients had different clinical features. Molecular analysis of the 17p11.2 region by PFGE method proved to be a reliable and non-invasive method of diagnosis in HNPP cases both familial and isolated.
我们描述了对10个无亲缘关系的意大利家庭以及7例遗传性压力易感性周围神经病（HNPP）孤立病例进行的脉冲场凝胶电泳（PFGE）分析。我们的样本包括具有不同临床特征的患者，从典型的压力易感性到进行性多发性神经病不等。使用来自1型腓骨肌萎缩症（CMT1A）-REP区域的cosH1探针评估17p11.2缺失的频率和大小一致性。在我们所有患者中均证实存在该缺失；此外，尽管我们的患者具有不同的临床特征，但缺失大小相同。通过PFGE方法对17p11.2区域进行分子分析，被证明是一种诊断家族性和孤立性HNPP病例的可靠且非侵入性的方法。
