| Autor: |
A, Vandenberghe, P, Latour, G, Chauplannaz, F, Chapon, J, Pouget, R, Dumas, A, Laguenay, E, Ollagnon, M, Bost, S, Duthel, G, Chazot, M, Boucherat |
| Rok vydání: |
1996 |
| Předmět: |
|
| Zdroj: |
Clinical chemistry. 42(7) |
| ISSN: |
0009-9147 |
| Popis: |
The most frequent form of Charcot-Marie-Tooth disease (CMT1A; OMIM118.220) is the result of a duplication on chromosome 17 in pll.2-p12. This region contains PMP22, a gene expressed in peripheral myelin. The mutation results from an unequal crossing-over involving repeated sequences, CMT1A-REP, located on both sides of the duplicated region. The reciprocal product of this recombination is a deletion of the same region, which is associated with hereditary neuropathy with liability to pressure palsies (HNPP; OMIM162.500). Proximal and distal CMT1A-REP sequences can be distinguished by the presence of a variant EcoRI site. We quantified the number of these repeat sequences in 36 CMT1A and 40 HNPP patients. CMT1A-REP sequences are involved in almost all of the mutations. The majority of recombination breakpoints occur distally from the variant EcoRI site. However, a few have a breakpoint proximal to this site, which creates the risk of misinterpretation with respect to a duplicated/deleted status. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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