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

Autor: Kiseleva AV; Federal State Institution «National Medical Research Center for Therapy and Preventive Medicine» of the Ministry of Healthcare of the Russian Federation, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Klimushina MV; Federal State Institution «National Medical Research Center for Therapy and Preventive Medicine» of the Ministry of Healthcare of the Russian Federation, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Sotnikova EA; Federal State Institution «National Medical Research Center for Therapy and Preventive Medicine» of the Ministry of Healthcare of the Russian Federation, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Divashuk MG; Federal State Institution «National Medical Research Center for Therapy and Preventive Medicine» of the 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., Ershova AI; Federal State Institution «National Medical Research Center for Therapy and Preventive Medicine» of the Ministry of Healthcare of the Russian Federation, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Skirko OP; Federal State Institution «National Medical Research Center for Therapy and Preventive Medicine» of the Ministry of Healthcare of the Russian Federation, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Kurilova OV; Federal State Institution «National Medical Research Center for Therapy and Preventive Medicine» of the Ministry of Healthcare of the Russian Federation, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Zharikova AA; Federal State Institution «National Medical Research Center for Therapy and Preventive Medicine» of the Ministry of Healthcare of the Russian Federation, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Leninskie Gory, 1-73, 119991 Moscow, Russia.; Institute for Information Transmission Problems, Russian Academy of Sciences, Bol'shoi Karetnyi per., 19, 127051 Moscow, Russia., Khlebus EY; Federal State Institution «National Medical Research Center for Therapy and Preventive Medicine» of the Ministry of Healthcare of the Russian Federation, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Efimova IA; Federal State Institution «National Medical Research Center for Therapy and Preventive Medicine» of the Ministry of Healthcare of the Russian Federation, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Pokrovskaya MS; Federal State Institution «National Medical Research Center for Therapy and Preventive Medicine» of the Ministry of Healthcare of the Russian Federation, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Slominsky PA; Institute of Molecular Genetics, Russian Academy of Sciences, Kurchatov Sq., 2, 123182 Moscow, Russia., Shalnova SA; Federal State Institution «National Medical Research Center for Therapy and Preventive Medicine» of the Ministry of Healthcare of the Russian Federation, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Meshkov AN; Federal State Institution «National Medical Research Center for Therapy and Preventive Medicine» of the Ministry of Healthcare of the Russian Federation, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Drapkina OM; Federal State Institution «National Medical Research Center for Therapy and Preventive Medicine» of the Ministry of Healthcare of the Russian Federation, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Jazyk: angličtina
Zdroj: Journal of personalized medicine [J Pers Med] 2020 Sep 22; Vol. 10 (3). Date of Electronic Publication: 2020 Sep 22.
DOI: 10.3390/jpm10030140
Abstrakt: 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.
Databáze: MEDLINE
Externí odkaz: