Results of the new medical technologies «Detection of major PAH gene point mutations by multuplex ligase reaction» and «Detection of ten additional mutations in PAH gene by multuplex ligase reaction» application in the DNA-diagnostics of phenylketonuria
https://doi.org/10.1234/XXXX-XXXX-2016-2-29-36
Abstract
The molecular genetic study of 180 probands with phenylketonuria, directed to the DNA-diagnostics laboratory of FSBI «RCMG» in the period from 10.01.2015 to 01.02.2016. New medical technologies embedded into practice FSBI «RCMG» were used for DNA diagnostics. It was found that the application of these technologies makes the medical and genetic counseling of families more effective. It allows to make a diagnosis in a short time and with less logistical costs. Also it is used for carrier diagnostics for the relatives of the proband and prenatal diagnosis in burdened families.
About the Authors
P. . Gundorova
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation
Russian Federation
A. A. Stepanova
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
A. V. Polyakov
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation
Russian Federation
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Review
For citations:
Gundorova P., Stepanova A.A., Shchagina O.A., Polyakov A.V. Results of the new medical technologies «Detection of major PAH gene point mutations by multuplex ligase reaction» and «Detection of ten additional mutations in PAH gene by multuplex ligase reaction» application in the DNA-diagnostics of phenylketonuria. Medical Genetics. 2016;15(2):29-36. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-2-29-36
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