Enviar artigo por via de e-mail Diversity and Prevalence of Hereditary Diseases among Nogais of the Karachay-Cherkess Republic
- Autores: Zinchenko R.A.1,2, Makaov A.K.3, Kadyshev V.V.1, Galkina V.A.1, Dadali E.L.1,2, Mikhailova L.K.4, Shurygina M.F.5, Marakhonov A.V.1,6, Petrova N.V.1, Petrina N.E.1, El’chinonva G.I.1,7, Gundorova P.1, Tanas A.S.1,2, Strelnikov V.V.1,2, Polyakov A.V.1, Ginter E.K.1
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Afiliações:
- Research Center for Medical Genetics
- Pirogov Russian National Research Medical University
- Habezskaya Central District Hospital
- Fyodorov Eye Microsurgery Complex
- Priorov Central Scientific Research Institute of Traumatology and Orthopedics
- Moscow Institute of Physics and Technology
- Moscow State University of Medicine and Dentistry
- Edição: Volume 54, Nº 7 (2018)
- Páginas: 858-865
- Seção: Human Genetics
- URL: https://journals.rcsi.science/1022-7954/article/view/189079
- DOI: https://doi.org/10.1134/S1022795418070165
- ID: 189079
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Resumo
The diversity and prevalence of hereditary diseases (HDs) among Nogais of the Karachay-Cherkess Republic (KChR) are described. The size of the surveyed KChR population was 387231 individuals, including 3.81% Nogais (14741 individuals). We revealed 36 nosological forms of HDs (110 patients from 81 families): 22 with autosomal dominant (AD) inheritance, 10 with autosomal recessive (AR) inheritance, and 4 with X-linked inheritance. The prevalence of HDs in Nogais was 1: 134. The features of HD diversity in Nogais were determined in comparison with the previously surveyed populations of Russia. The accumulation of Ehlers–Danlos syndrome (1: 388), AD amelogenesis imperfecta (1: 3685), AD ichthyosis (1: 4914), AR nonsyndromic mental retardation (1: 1340), AR Gilbert syndrome (1: 4914), and X-linked inherited deficit of glucose-6-dehydrogenase (1: 1774 males) was established. The analysis of heterozygous carriage of mutations “major” for Russia in the genes of the four following AR diseases in 118 unrelated clinically healthy Nogais (236 analyzed chromosomes) was performed: cystic fibrosis (13 mutations in the CFTR gene: CFTRdele2,3 (21 kb), F508del, I507del, 1677delTA, 2184insA, 2143delT, 2183AA>G, 2184delA, 394delTT, 3821delT, L138ins, E92K, W1282X); phenylketonuria (six frequent mutations in the PAH gene: R261X, R408W, R413P, F331S, P211T, P211L); nonsyndromic sensorineural hearing loss (35delG mutation in the GJB2 gene); and Gilbert syndrome (an increase in the number of TA repeats in the UGT1A1 gene). Allelic specificity for all studied genes in the Nogai people was revealed.
Sobre autores
R. Zinchenko
Research Center for Medical Genetics; Pirogov Russian National Research Medical University
Autor responsável pela correspondência
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478; Moscow, 117997
A. Makaov
Habezskaya Central District Hospital
Email: renazinchenko@mail.ru
Rússia, Habez, 369400
V. Kadyshev
Research Center for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478
V. Galkina
Research Center for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478
E. Dadali
Research Center for Medical Genetics; Pirogov Russian National Research Medical University
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478; Moscow, 117997
L. Mikhailova
Fyodorov Eye Microsurgery Complex
Email: renazinchenko@mail.ru
Rússia, Moscow, 127486
M. Shurygina
Priorov Central Scientific Research Institute of Traumatology and Orthopedics
Email: renazinchenko@mail.ru
Rússia, Moscow, 127299
A. Marakhonov
Research Center for Medical Genetics; Moscow Institute of Physics and Technology
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478; Dolgoprudny, 141701
N. Petrova
Research Center for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478
N. Petrina
Research Center for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478
G. El’chinonva
Research Center for Medical Genetics; Moscow State University of Medicine and Dentistry
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478; Moscow, 127473
P. Gundorova
Research Center for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478
A. Tanas
Research Center for Medical Genetics; Pirogov Russian National Research Medical University
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478; Moscow, 117997
V. Strelnikov
Research Center for Medical Genetics; Pirogov Russian National Research Medical University
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478; Moscow, 117997
A. Polyakov
Research Center for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478
E. Ginter
Research Center for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478
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