A Data-Driven Approach to Carrier Screening for Common Recessive Diseases

National Medical Research Center for Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia

Kurchatov Genomics Center-ARRIAB, All-Russia Research Institute of Agricultural Biotechnology, Timiryazevskaya Street, 42, 127550 Moscow, Russia

Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Leninskie Gory, 1-73, 119991 Moscow, Russia

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Institute for Information Transmission Problems, Russian Academy of Sciences, Bol’shoi Karetnyi per., 19, 127051 Moscow, Russia

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Institute of Molecular Genetics, Russian Academy of Sciences, Kurchatov Sq., 2, 123182 Moscow, Russia

Author to whom correspondence should be addressed.

^†

These authors contributed equally to this work.

^‡

These authors contributed equally to this work.

J. Pers. Med. 2020, 10(3), 140; https://doi.org/10.3390/jpm10030140

Received: 3 August 2020 / Revised: 14 September 2020 / Accepted: 21 September 2020 / Published: 22 September 2020

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Abstract

Genetic screening is an advanced tool for reducing recessive disease burden. Nowadays, it is still unclear as to the number of genes or their variants that are necessary for effective screening. This paper describes the development of a carrier screening custom panel for cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss consisting of 116 variants in the CFTR, PAH, SERPINA1, and GJB2 genes. The approach is based on the cheapest and fastest method, on using a small number of genes, and on the estimation of the effectiveness of carriers’ detection. The custom panel was tested on a population-based cohort that included 1244 participants. Genotypes were determined by the TaqMan OpenArray Genotyping platform on the QuantStudio 12K Flex Real-Time PCR System. The frequency of heterozygotes in the Russian population was 16.87% or 1:6 (CI95%: 14.76–19.00% by Clopper-Pearson exact method): in CFTR—2.81% (1:36), PAH—2.33% (1:43), SERPINA1—4.90% (1:20), and GJB2—6.83% (1:15). The data on allele frequencies were obtained for the first time on a Russian population. The panel allows us to identify the vast majority of carriers of recessive diseases in the population. It is an effective approach to carrier screening for common recessive diseases. View Full-Text

Keywords: cystic fibrosis; CFTR; phenylketonuria; PAH; alpha-1 antitrypsin deficiency; SERPINA1; sensorineural hearing loss; GJB2; carrier screening

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MDPI and ACS Style

Kiseleva, A.V.; Klimushina, M.V.; Sotnikova, E.A.; Divashuk, M.G.; Ershova, A.I.; Skirko, O.P.; Kurilova, O.V.; Zharikova, A.A.; Khlebus, E.Y.; Efimova, I.A.; Pokrovskaya, M.S.; Slominsky, P.A.; Shalnova, S.A.; Meshkov, A.N.; Drapkina, O.M. A Data-Driven Approach to Carrier Screening for Common Recessive Diseases. J. Pers. Med. 2020, 10, 140. https://doi.org/10.3390/jpm10030140

AMA Style

Kiseleva AV, Klimushina MV, Sotnikova EA, Divashuk MG, Ershova AI, Skirko OP, Kurilova OV, Zharikova AA, Khlebus EY, Efimova IA, Pokrovskaya MS, Slominsky PA, Shalnova SA, Meshkov AN, Drapkina OM. A Data-Driven Approach to Carrier Screening for Common Recessive Diseases. Journal of Personalized Medicine. 2020; 10(3):140. https://doi.org/10.3390/jpm10030140

Chicago/Turabian Style

Kiseleva, Anna V., Marina V. Klimushina, Evgeniia A. Sotnikova, Mikhail G. Divashuk, Alexandra I. Ershova, Olga P. Skirko, Olga V. Kurilova, Anastasia A. Zharikova, Eleonora Y. Khlebus, Irina A. Efimova, Maria S. Pokrovskaya, Petr A. Slominsky, Svetlana A. Shalnova, Alexey N. Meshkov, and Oxana M. Drapkina. 2020. "A Data-Driven Approach to Carrier Screening for Common Recessive Diseases" Journal of Personalized Medicine 10, no. 3: 140. https://doi.org/10.3390/jpm10030140

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