Haupt A, Schöls L, Przuntek H, Epplen J T
Ruhr-Universität, Bochum, Germany.
Hum Genet. 1997 May;99(5):688-91. doi: 10.1007/s004390050431.
DNA duplications and deletions of a 1.5-Mb region in chromosome 17p11.2-12 comprising the gene encoding peripheral myelin protein 22 (PMP-22) are the common mutations in Charcot-Marie-Tooth disease type 1 (CMT1) and hereditary neuropathy with liability to pressure palsies (HNPP). A 1.7-kb recombination hotspot region has been identified within misaligned flanking repeats (CMT1-REP elements) by detection of CMT- and HNPP-specific junction fragments in Southern blot analyses. In order to simplify routine diagnosis we introduce a polymerase chain reaction-based method to identify directly specific REP junction fragments. Using this test, specific fragments were detected in approximately 67% of both CMT duplication and HNPP deletion cases. Polymorphism within a specific restriction enzyme recognition site is crucial for both Southern blot and PCR analyses of junction fragments.
17号染色体p11.2 - 12区域中一个包含编码外周髓鞘蛋白22（PMP - 22）基因的1.5兆碱基区域的DNA重复和缺失是1型遗传性运动感觉神经病（CMT1）和遗传性压力易感性神经病（HNPP）的常见突变。通过Southern印迹分析检测CMT和HNPP特异性连接片段，已在未对齐的侧翼重复序列（CMT1 - REP元件）内鉴定出一个1.7千碱基的重组热点区域。为了简化常规诊断，我们引入了一种基于聚合酶链反应的方法来直接鉴定特异性REP连接片段。使用该检测方法，在大约67%的CMT重复和HNPP缺失病例中检测到了特异性片段。特异性限制酶识别位点内的多态性对于连接片段的Southern印迹分析和PCR分析都至关重要。
