DNA diagnosis of Friedreich`s ataxia using a new medical technology «Detection GAA expansion in FXN gene, liability for Friedreich`s ataxia»
https://doi.org/10.1234/XXXX-XXXX-2016-2-24-28
Abstract
Since 01.01.2014 to 01.03.2016 the most common FXN gene mutation was investigated in 201 patients of DNA Diagnostics Laboratory of the Research Centre of Medical Genetics. There are results in current study. The new medical technology introduced into practice at the Centre of Medical Genetics was used. It was found that this technology makes more effective a medical and genetic counseling of families affected by Friedreich’s ataxia. It permits to carry out genetic test of Friedreich’s ataxia, including carrier screening for proband’s relatives and prenatal diagnosis, more quickly and with lower maintenance costs.
About the Authors
N. M. Galeeva
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation
Russian Federation
O. L. Mironovich
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation
Russian Federation
V. V. Zabnenkova
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
References
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Review
For citations:
Galeeva N.M., Mironovich O.L., Zabnenkova V.V., Shchagina O.A., Polyakov A.V. DNA diagnosis of Friedreich`s ataxia using a new medical technology «Detection GAA expansion in FXN gene, liability for Friedreich`s ataxia». Medical Genetics. 2016;15(2):24-28. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-2-24-28
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