Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.

Autor: Sotnikova EA; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Kiseleva AV; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Kutsenko VA; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.; Faculty of Mechanics and Mathematics, Lomonosov Moscow State University, 1-73, Leninskie Gory, 119991 Moscow, Russia., Zharikova AA; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, 1-73, Leninskie Gory, 119991 Moscow, Russia., Ramensky VE; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, 1-73, Leninskie Gory, 119991 Moscow, Russia., Divashuk MG; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.; All-Russia Research Institute of Agricultural Biotechnology, Timiryazevskaya Street, 42, 127550 Moscow, Russia., Vyatkin YV; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.; Novosibirsk State University, 1, Pirogova Str., 630090 Novosibirsk, Russia., Klimushina MV; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Ershova AI; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Revazyan KZ; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Skirko OP; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Zaicenoka M; Moscow Institute of Physics and Technology, Dolgoprudny, Institutskiy per.9, 141701 Dolgoprudny, Russia., Efimova IA; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Pokrovskaya MS; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Kopylova OV; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Glechan AM; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Shalnova SA; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Meshkov AN; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Drapkina OM; National Medical Research Center for Therapy and Preventive Medicine, 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] 2022 Jul 12; Vol. 12 (7). Date of Electronic Publication: 2022 Jul 12.
DOI: 10.3390/jpm12071132
Abstrakt: Cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss are among the most common autosomal recessive diseases, which require carrier screening. The evaluation of population allele frequencies (AF) of pathogenic variants in genes associated with these conditions and the choice of the best genotyping method are the necessary steps toward development and practical implementation of carrier-screening programs. We performed custom panel genotyping of 3821 unrelated participants from two Russian population representative samples and three patient groups using real-time polymerase chain reaction (PCR) and next generation sequencing (NGS). The custom panel included 115 known pathogenic variants in the CFTR , PAH , SERPINA1 , and GJB2 genes. Overall, 38 variants were detected. The comparison of genotyping platforms revealed the following advantages of real-time PCR: relatively low cost, simple genotyping data analysis, and easier detection of large indels, while NGS showed better accuracy of variants identification and capability for detection of additional pathogenic variants in adjacent regions. A total of 23 variants had significant differences in estimated AF comparing with non-Finnish Europeans from gnomAD. This study provides new AF data for variants associated with the studied disorders and the comparison of genotyping methods for carrier screening.
Databáze: MEDLINE
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