QuantStudio 12k flex Real-Time PCR system for screening phenylalanine hydroxylase (PAH) gene mutations
https://doi.org/10.25557/2073-7998.2020.07.71-72
Abstract
The aim of the work was to create and test a custom panel of 23 PAH gene variants responsible for the development of phenylketonuria, and to evaluate the frequency of heterozygous carriers of these mutations among 642 participants of the population-based cohort study ESSE-Vologda. The presence of mutations was determined using QuantStudio 12K Flex Real-Time PCR system. 17 carriers of PAH variants among 642 participants were identified. The frequency of heterozygous carriers was 2.65% (CI95%: 1.55-4.21%), or 1:38. The data obtained indicate a high frequency of PAH variants in the Russian population. The proposed panel can be used for screening on heterozygous carriers of variants that cause phenylketonuria.
About the Authors
O. V. Kurilova
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
M. V. Klimushina
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
A. V. Kiseleva
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
O. P. Skirko
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
E. A. Sotnikova
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
M. G. Divashuk
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
E. Yu. Khlebus
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
A. L. Borisova
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
Yu. V. Doludin
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
P. A. Slominsky
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
A. N. Meshkov
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
O. M. Drapkina
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
Review
For citations:
Kurilova O.V., Klimushina M.V., Kiseleva A.V., Skirko O.P., Sotnikova E.A., Divashuk M.G., Khlebus E.Yu., Borisova A.L., Doludin Yu.V., Slominsky P.A., Meshkov A.N., Drapkina O.M. QuantStudio 12k flex Real-Time PCR system for screening phenylalanine hydroxylase (PAH) gene mutations. Medical Genetics. 2020;19(7):71-72. (In Russ.) https://doi.org/10.25557/2073-7998.2020.07.71-72
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