Yamamoto M, Yasuda T, Mitsuma T, Obara K, Tachi N, Sobue G
Department of Neurology, Nagoya University School of Medicine, Japan.
No To Shinkei. 1997 May;49(5):443-7.
The crossover breakpoints for hereditary neuropathy with liability to pressure palsies (HNPP) are located in the CMT 1 A-REP repeat flanking a 1.5 Mb region of chromosome 17p11.2-12. Three-unrelated HNPP patients have breakpoints in a 3.2 kb novel fragment of recombinant chromosome in the CMT 1 A-REP repeat. The fragment is detected by recombinant chromosome-specific polymerase chain reaction (PCR). Further analysis of PCR demonstrated a 1.2 kb novel junction fragment in the 3.2 kb region in all HNPP patients. The precise mapping of the breakpoints indicated that 2 patients were localized in a 700 bp interval of the 1.2 kb fragment 1.3kb telomeric to a marier transposon-like element (Kiyosawa and Chance, HMG 5: 745-753, 1996), suggesting that this region is a recombinational "hotspot" within the CMT 1 A-REP repeat for HNPP as well as CMT 1 A.
易患压迫性麻痹的遗传性神经病（HNPP）的交叉断点位于17号染色体p11.2 - 12区域1.5 Mb的CMT 1 A - REP重复序列侧翼。三名无亲缘关系的HNPP患者在CMT 1 A - REP重复序列的重组染色体的一个3.2 kb新片段中有断点。该片段通过重组染色体特异性聚合酶链反应（PCR）检测到。对PCR的进一步分析表明，所有HNPP患者在3.2 kb区域中均存在一个1.2 kb的新连接片段。断点的精确映射表明，2名患者的断点位于1.2 kb片段的700 bp区间内，该片段位于一个类似mariner转座子元件的1.3 kb端粒处（清泽和钱斯，《HMG》5：745 - 753，1996），这表明该区域是HNPP以及CMT 1 A的CMT 1 A - REP重复序列内的一个重组“热点”。
