Screening of the 17p11.2-p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP)
Screening of the 17p11.2-p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP)
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DOI：
10.1007/bf03195684
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发表时间：
2009-01-01
影响因子：
2.4
通讯作者：
Kochanski, A.
中科院分区：
文献类型：
--
作者：
Kabzinska, D.;Pierscinska, J.;Kochanski, A.
在过去的十年中，许多方法已被应用于检测Charcot-Marie-Tooth（CMT）疾病患者中最常见的突变，即17p11.2-p12区域的亚显微重复。在1993年，另一种神经病-被称为遗传性神经病与压力麻痹（HNPP）的易感性已被证明是由17 p11.2-p12缺失引起的。历史上，Southern印迹分析是鉴定CMT 1A重复或HNPP缺失的第一种方法。这种耗时耗力的方法需要事先选择DNA样本。事实上，只有受CMT I脱髓鞘形式影响的CMT患者才进行了CMT 1A重复筛查。在CMT I家族中鉴定出17p11.2-p12重复后，随后的研究揭示了携带17p11.2-p12重复的患者的其他轴突特征。因此，检测所有受CMT影响的患者是否存在17p11.2-p12重复似乎是合理的。为了评估实时聚合酶链反应（Q-PCR）和限制性片段长度多态性PCR（RFLP-PCR）的实用性，我们筛选了179个诊断为CMT/HNPP的家族中存在17p11.2-p12重复/缺失。由于CMT家族性病例中CMT 1A重复的频率很高，我们建议（与以前的研究相反）在所有诊断为CMT的患者中进行Q-PCR分析。
Within the last decade, numerous methods have been applied to detect the most common mutation in patients affected with Charcot-Marie-Tooth (CMT) disease, i.e. Submicroscopic duplication in the 17p11.2-p12 region. In 1993, another neuropathy - known as hereditary neuropathy with liability to pressure palsies (HNPP) has been shown to be caused by a 17p11.2-p12 deletion. Historically, Southern blot analysis was the first approach to identify CMT1A duplication or HNPP deletion. This time- and labor-consuming method requires prior selection of DNA samples. In fact, only CMT patients affected with the demyelinating form of CMT I have been screened for CMT1A duplication. After the 17p11.2-p12 duplication was identified in the CMT I families, subsequent studies revealed additional axonal features in the patients harboring the 17p11.2-p12 duplication. Thus it seems reasonable to test all patients affected with CMT for the presence of the 17p11.2-p12 duplication. To evaluate the utility of real-time polymerase chain reaction (Q-PCR) and restriction fragment length polymorphism PCR (RFLP-PCR), we screened a large group of 179 families with the diagnosis of CMT/HNPP for the presence of the 17p11.2-p12 duplication/deletion. Due to a high frequency of CMT1A duplication in familial cases of CMT, we propose (in contrast to the previous studies) to perform Q-PCR analysis in all patients diagnosed with CMT.