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

Marina V. Zytsar, Marita S. Bady-Khoo, Valeriia Yu Danilchenko, Ekaterina A. Maslova, Nikolay A. Barashkov, Igor V. Morozov, Alexander A. Bondar, Olga L. Posukh

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

Abstract

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.

Original languageEnglish
Article number833
Pages (from-to)1-17
Number of pages17
JournalGenes
Volume11
Issue number7
DOIs
Publication statusPublished - 1 Jul 2020

Keywords

  • Altaians
  • Founder effect
  • GJB2
  • Hearing loss
  • Mutation age
  • Southern Siberia
  • STR and SNP haplotypes
  • Tuvinians

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