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Kurilova O.V.

FSI «National Medical Research Center for Preventive Medicine» of the Ministry of Healthcare of the Russian Federation

Klimushina M.V.

FSI «National Medical Research Center for Preventive Medicine» of the Ministry of Healthcare of the Russian Federation

Kiseleva A.V.

FSI «National Medical Research Center for Preventive Medicine» of the Ministry of Healthcare of the Russian Federation

Ershova A.I.

National Medical Research Center for Therapy and Preventive Medicine

Sotnikova E.A.

FSI «National Medical Research Center for Preventive Medicine» of the Ministry of Healthcare of the Russian Federation

Divashuk M.G.

FSI «National Medical Research Center for Preventive Medicine» of the Ministry of Healthcare of the Russian Federation

Khlebus E.Yu.

FSI «National Medical Research Center for Preventive Medicine» of the Ministry of Healthcare of the Russian Federation

Skirko O.P.

FSI «National Medical Research Center for Preventive Medicine» of the Ministry of Healthcare of the Russian Federation

Efimova I.A.

FSI «National Medical Research Center for Preventive Medicine» of the Ministry of Healthcare of the Russian Federation

Shalnova S.A.

National Medical Research Center for Therapy and Preventive Medicine

Slominsky P.A.

The Institute of Molecular Genetics of National Research Centre «Kurchatov Institute»

Meshkov A.N.

National Medical Research Center for Therapy and Preventive Medicine

Drapkina O.M.

National Medical Research Center for Therapy and Preventive Medicine;
A.I. Yevdokimov Moscow State University of Medicine and Dentistry

Carrier frequency of heterozygous phenylketonuria mutations in the population-based cohort study (ESSE-VOLOGDA)

Authors:

Kurilova O.V., Klimushina M.V., Kiseleva A.V., Ershova A.I., Sotnikova E.A., Divashuk M.G., Khlebus E.Yu., Skirko O.P., Efimova I.A., Shalnova S.A., Slominsky P.A., Meshkov A.N., Drapkina O.M.

More about the authors

Journal: Molecular Genetics, Microbiology and Virology. 2021;39(2): 38‑45

DOI: 10.17116/molgen20213902138

Read: 4586 times

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Table of contents

CARRIER FREQUENCY OF HETEROZYGOUS PHENYLKETONURIA MUTATIONS IN THE POPULATION-BASED COHORT STUDY (ESSE-VOLOGDA)
CARRIER FREQUENCY OF HETEROZYGOUS PHENYLKETONURIA MUTATIONS IN THE POPULATION-BASED COHORT STUDY (ESSE-VOLOGDA)

To cite this article:

Kurilova OV, Kurilova OV, Klimushina MV, et al. . Carrier frequency of heterozygous phenylketonuria mutations in the population-based cohort study (ESSE-VOLOGDA). Molecular Genetics, Microbiology and Virology. 2021;39(2):38‑45. (In Russ.)
https://doi.org/10.17116/molgen20213902138

Подписка 2026 Молекулярная генетика, микробиология и вирусология (Molecular Genetics, Microbiology and Virology)
МСФ на ЯМ
Использование инфографики авторами научных работ
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Abstract:

The aim of this study was to develop the custom panel for the diagnosis of heterozygous carriage of common variants associated with phenylketonuria (PKU) and to establish their allelic frequencies in one of the Russian regions. PKU is one of the most common monogenic diseases with an autosomal recessive inheritance. Carrier screening leads to a reduction in the number of children born with PKU disease.

MATERIALS AND METHODS

Custom diagnostic panel included 23 variants of the PAH gene. The study participants (n=642) were randomly selected from the population-based cohort study ESSE-Vologda. Genotypes were determined by real-time polymerase chain reaction on the QuantStudio 12K Flex Real-Time PCR System (Thermo Fisher Scientific, USA). Data processing was performed using the TaqMan Genotyper Software (Thermo Fisher Scientific, USA).

RESULTS

17 heterozygous carriers of six variants were identified: R408W (rs5030858), A403V (rs5030857), I306V (rs62642934), L48S (rs5030841), IVS12+1G>A (rs5030861), R261Q (rs5030849_C_T). The frequency of heterozygotes in the Russian population was 2.65% or 1:38 (CI95%: 1.55—4.21%).

CONCLUSION

The results suggest that it is promising to develop a programme for carrier detection of PKU mutations in the population for individuals without a family history of PKU. The proposed panel is fast and suitable method for mass screening of PKU carriers.

Keywords:

phenylketonuria
PAH gene
mutation
frequency
phenylketonuria
population study
PAH gene
mutation
frequency
population study
phenylketonuria
PAH gene
mutation
frequency
phenylketonuria
population study
PAH gene
mutation
frequency
population study

Authors:

Kurilova O.V.

FSI «National Medical Research Center for Preventive Medicine» of the Ministry of Healthcare of the Russian Federation

Klimushina M.V.

FSI «National Medical Research Center for Preventive Medicine» of the Ministry of Healthcare of the Russian Federation

Kiseleva A.V.

FSI «National Medical Research Center for Preventive Medicine» of the Ministry of Healthcare of the Russian Federation

Ershova A.I.

National Medical Research Center for Therapy and Preventive Medicine

Sotnikova E.A.

FSI «National Medical Research Center for Preventive Medicine» of the Ministry of Healthcare of the Russian Federation

Divashuk M.G.

FSI «National Medical Research Center for Preventive Medicine» of the Ministry of Healthcare of the Russian Federation

Khlebus E.Yu.

FSI «National Medical Research Center for Preventive Medicine» of the Ministry of Healthcare of the Russian Federation

Skirko O.P.

FSI «National Medical Research Center for Preventive Medicine» of the Ministry of Healthcare of the Russian Federation

Efimova I.A.

FSI «National Medical Research Center for Preventive Medicine» of the Ministry of Healthcare of the Russian Federation

Shalnova S.A.

National Medical Research Center for Therapy and Preventive Medicine

Slominsky P.A.

The Institute of Molecular Genetics of National Research Centre «Kurchatov Institute»

Meshkov A.N.

National Medical Research Center for Therapy and Preventive Medicine

Drapkina O.M.

National Medical Research Center for Therapy and Preventive Medicine;
A.I. Yevdokimov Moscow State University of Medicine and Dentistry

Received:

08.04.2020

Accepted:

20.08.2020

Close metadata

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