Carrier screen of spinal muscular atrophy using a new medical technology «Quantitative detection methods of copy number analysis of SMA locus genes»
https://doi.org/10.1234/XXXX-XXXX-2016-2-18-23
Abstract
Spinal muscular atrophy (SMA) is one of the most severe autosomal recessive disorders. SMA gene has been mapped to chromosome 5q12.2-q13.3. Gene codes for a survival motor neuron protein (SMN). It has the telomeric and centromeric copies. SMA is caused by mutation in the telomeric copy of SMN gene ( SMNt ). New quantitative method of copy number analysis of SMA locus genes has been developed and introduced into practice at the Research Centre for Medical Genetics. This method is based on Multiplex Ligase Probe-Amplification. The SMA Carrier screen was carried out in 432 patients.
About the Authors
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
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Review
For citations:
Zabnenkova V.V., Shchagina O.A., Polyakov A.V. Carrier screen of spinal muscular atrophy using a new medical technology «Quantitative detection methods of copy number analysis of SMA locus genes». Medical Genetics. 2016;15(2):18-23. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-2-18-23
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