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Open AccessArticle

High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect

1
Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia
2
Perinatal Center of the Republic of Tyva, 667000 Kyzyl, Russia
3
Novosibirsk State University, 630090 Novosibirsk, Russia
4
Yakut Scientific Centre of Complex Medical Problems, 677019 Yakutsk, Russia
5
M.K. Ammosov North-Eastern Federal University, 677027 Yakutsk, Russia
6
Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia
*
Author to whom correspondence should be addressed.
Genes 2020, 11(7), 833; https://doi.org/10.3390/genes11070833
Received: 16 June 2020 / Revised: 10 July 2020 / Accepted: 17 July 2020 / Published: 21 July 2020
(This article belongs to the Special Issue Genetics of Hearing Impairment)
The mutations in the GJB2 gene (13q12.11, MIM 121011) encoding transmembrane protein connexin 26 (Cx26) account for a significant portion of hereditary hearing loss worldwide. Earlier we found a high prevalence of recessive GJB2 mutations c.516G>C, c.-23+1G>A, c.235delC in indigenous Turkic-speaking Siberian peoples (Tuvinians and Altaians) from the Tyva Republic and Altai Republic (Southern Siberia, Russia) and proposed the founder effect as a cause for their high rates in these populations. To reconstruct the haplotypes associated with each of these mutations, the genotyping of polymorphic genetic markers both within and flanking the GJB2 gene was performed in 28 unrelated individuals homozygous for c.516G>C (n = 18), c.-23+1G>A (n = 6), or c.235delC (n = 4) as well as in the ethnically matched controls (62 Tuvinians and 55 Altaians) without these mutations. The common haplotypes specific for mutations c.516G>C, c.-23+1G>A, or c.235delC were revealed implying a single origin of each of these mutations. The age of mutations estimated by the DMLE+ v2.3 software and the single marker method is discussed in relation to ethnic history of Tuvinians and Altaians. The data obtained in this study support a crucial role of the founder effect in the high prevalence of GJB2 mutations c.516G>C, c.-23+1G>A, c.235delC in indigenous populations of Southern Siberia. View Full-Text
Keywords: hearing loss; GJB2; founder effect; STR and SNP haplotypes; mutation age; Tuvinians; Altaians; Southern Siberia hearing loss; GJB2; founder effect; STR and SNP haplotypes; mutation age; Tuvinians; Altaians; Southern Siberia
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MDPI and ACS Style

Zytsar, M.V.; Bady-Khoo, M.S.; Danilchenko, V.Y..; Maslova, E.A.; Barashkov, N.A.; Morozov, I.V.; Bondar, A.A.; Posukh, O.L. High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect. Genes 2020, 11, 833. https://doi.org/10.3390/genes11070833

AMA Style

Zytsar MV, Bady-Khoo MS, Danilchenko VY, Maslova EA, Barashkov NA, Morozov IV, Bondar AA, Posukh OL. High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect. Genes. 2020; 11(7):833. https://doi.org/10.3390/genes11070833

Chicago/Turabian Style

Zytsar, Marina V.; Bady-Khoo, Marita S.; Danilchenko, Valeriia Y..; Maslova, Ekaterina A.; Barashkov, Nikolay A.; Morozov, Igor V.; Bondar, Alexander A.; Posukh, Olga L. 2020. "High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect" Genes 11, no. 7: 833. https://doi.org/10.3390/genes11070833

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