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The Load and Diversity of Monogenic Hereditary Pathology among the Child Population of Kirov Region

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Abstract

The results of the study of genetic load and diversity of monogenic forms of hereditary pathology (MHP) among the child population from 11 districts of Kirov region (KR) obtained during genetic and epidemiological study of the region are presented. The total size of surveyed population is 286 616 individuals (including 37 348 children—13.03%), mainly Russians (88.1%). MHP included 91 diseases (287 patients from 255 families): 50 with autosomal dominant (AD) inheritance (153 patients from 129 families), 33 with autosomal recessive (AR) (107 patients from 104 families), and 8 nosologies with X-linked inheritance (27 patients from 22 families). All diseases were found in previously surveyed populations of the Russian Federation. Nine forms of MHP were detected with a prevalence higher than 1 : 5000: hereditary motor-sensory neuropathy (21.42/100 000), AD ichthyosis vulgaris (83.00/100 000), AD congenital ptosis (24.10/100 000), AD congenital cataract (29.45/100 000), AD syndactyly, type 1 (24.10/100 000), AR undifferentiated mental retardation (26.76/100 000), AR microcephaly with mental retardation (50.87/100 000), AR congenital cataract (26.78/100 000), and AR nonsyndromic sensorineural hearing loss (58.91/100 000). The average prevalence of MHP among the child population of KR was 1 : 130 children, with variation from 1 : 236 children in Vyatskopolyansky district to 1 : 51 children in Sunsky district. On the basis of the correlation analysis between load estimations and Fst values carried out, the reasons for revealed differentiation between districts are assumed.

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Funding

This study was supported by the Russian Foundation for Basic Research (project no. 18-015-00090) and state assignment of the Ministry of Education and Science of the Russian Federation.

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Correspondence to R. A. Zinchenko.

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Statement of compliance with standards of research involving humans as subjects. All procedures carried out in a study with the participation of people comply with the ethical standards of the institutional and/or national research ethics committee and the 1964 Helsinki Declaration and its subsequent changes or comparable standards of ethics. Informed voluntary consent was obtained from each of the participants in the study.

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Translated by A. Kashevarova

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Zinchenko, R.A., Kadyshev, V.V., Galkina, V.A. et al. The Load and Diversity of Monogenic Hereditary Pathology among the Child Population of Kirov Region. Russ J Genet 56, 1530–1534 (2020). https://doi.org/10.1134/S1022795420120157

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