Young P, Stögbauer F, Wiebusch H, Löfgren A, Timmerman V, Van Broeckhoven C, Ringelstein E B, Assmann G, Funke H
Klinik und Poliklinik für Neurologie, Westfälische Wilhelms-Universität, Münster, Germany.
Neurology. 1998 Mar;50(3):760-3. doi: 10.1212/wnl.50.3.760.
Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are inherited peripheral neuropathies. In most cases these disorders are caused by either the duplication (in CMT1A) or the deletion (in HNPP) of a 1.5-megabase DNA fragment on chromosome 17p11.2, which contains the peripheral myelin protein 22 gene (PMP22). We developed a rapid and simple quantitative PCR assay for the detection of the CMT1A duplication or the HNPP deletion. The assay is based on the quantitative determination of the copy number of a 240-base pair DNA fragment from exon 4 of the PMP22 gene. Quantification was done on an automated fluorescence sequencer. Using this method we analyzed four families with the HNPP phenotype. In these families we identified the deletion in all affected individuals. To test the validity of the method, we compared the quantitative PCR results from 50 DNA samples, including 15 samples from individuals with HNPP, 15 samples from CMT1A patients, and 20 from normal controls, with the results obtained by Southern blot analysis. Concordant results were obtained in 49 of the 50 cases.
1A型夏科-马里-图斯病（CMT1A）和遗传性压力易感性周围神经病（HNPP）是遗传性周围神经病。在大多数情况下，这些疾病是由17号染色体短臂11.2区一个1.5兆碱基DNA片段的重复（CMT1A中）或缺失（HNPP中）引起的，该片段包含周围髓磷脂蛋白22基因（PMP22）。我们开发了一种快速简便的定量PCR检测方法，用于检测CMT1A重复或HNPP缺失。该检测方法基于对PMP22基因第4外显子一个240碱基对DNA片段拷贝数的定量测定。定量在自动荧光测序仪上进行。我们用这种方法分析了4个具有HNPP表型的家系。在这些家系中，我们在所有患病个体中都鉴定出了缺失。为了检验该方法的有效性，我们将50份DNA样本（包括15份HNPP患者样本、15份CMT1A患者样本和20份正常对照样本）的定量PCR结果与Southern印迹分析结果进行了比较。50例中有49例结果一致。
