Abstract
The majority of cases of Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are the result of DNA duplications and deletions respectively of a 1.5 Mb region on 17p11.2. The region contains the peripheral myelin protein 22 gene (PMP-22) and is flanked by homologous proximal and distal CMT1A-REP elements. The majority of duplications and deletions arise during meiotic recombination following misalignment and unequal crossing-over between the proximal and distal CMT1A-REP elements. The cross-over breakpoints are most frequently located within a 1.7 Kb hotspot of recombination and produce novel duplication or deletion junctional CMT1A-REPs with unique restriction patterns. Here we describe the use of PCR based tests, which amplify a 3.6 Kb region including the 1.7 Kb hotspot from specific CMT1A-REPs, for the rapid diagnosis of CMT1A and HNPP patients. In an analysis of 96 CMT1A and 30 HNPP patients, duplication and deletion events were detected in all samples with cross-over breakpoints known to be within the region amplified by PCR.
Original language | English |
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Pages (from-to) | 117-122 |
Number of pages | 6 |
Journal | Journal of the Peripheral Nervous System |
Volume | 4 |
Publication status | Published - 1999 |
Keywords
- CMT1A duplication
- HNPP deletion
- CMT1A-REP
- diagnosis
- DISEASE TYPE 1A
- RECOMBINATION HOTSPOT
- DUPLICATION
- CMT1A
- DELETIONS
- REGION
- PMP-22
- REPEAT