Results of the hereditary neuropathy with liability to pressure palsies DNA-diagnostics with utilizing the new medical technology «The method for detection of the PMP22 gene copy number»
https://doi.org/10.1234/XXXX-XXXX-2016-3-18-22
Abstract
Hereditary neuropathy with liability to pressure palsies (HNPP) belongs to hereditary polyneuropathies disease group which caused by mutations in the PMP22 gene. The gene deletion is the most frequent cause of this disease and it amounts no less than 70 % of all HNPP. Quantification of the copy number of all PMP22 encoding exons is the novel medical technology based on MLPA with the subsequent amplification which has been designed and implemented in practical activities in Federal State Budgetary Institution «Research Centre for Medical Genetics» (FSBI «RCMG»). The efficacy of using this technology has been determined for detection of deletions and duplications. The quantitative analyze of the PMP22 exons copy number was applied to 110 unrelated individuals with the HNPP diagnosis who were directed to the DNA-laboratory in FSBI «RCMG» since 1997 till 2016 years.
About the Authors
M. V. Bulakh
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation
Russian Federation
O. A. Shchagina
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation
Russian Federation
T. B. Milovidova
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation
Russian Federation
A. V. Polyakov
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation
Russian Federation
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Review
For citations:
Bulakh M.V., Shchagina O.A., Milovidova T.B., Polyakov A.V. Results of the hereditary neuropathy with liability to pressure palsies DNA-diagnostics with utilizing the new medical technology «The method for detection of the PMP22 gene copy number». Medical Genetics. 2016;15(3):18-22. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-3-18-22
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