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- Title
The Load and Diversity of Monogenic Hereditary Pathology among the Child Population of Kirov Region.
- Authors
Zinchenko, R. A.; Kadyshev, V. V.; Galkina, V. A.; El'chinova, G. I.; Marakhonov, A. V.; Alexandrova, O. Yu.; Kutsev, S. I.
- 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.
- Subjects
RUSSIA; PATHOLOGY; GENETIC load; INTELLECTUAL disabilities; RUSSIANS; STATISTICAL correlation; CLEFT palate children
- Publication
Russian Journal of Genetics, 2020, Vol 56, Issue 12, p1530
- ISSN
1022-7954
- Publication type
Article
- DOI
10.1134/S1022795420120157