First molecular screening of deafness in the Altai Republic population

BMC Med Genet. 2005 Mar 24:6:12. doi: 10.1186/1471-2350-6-12.


Background: We studied the molecular basis of NSHL in Republic of Altai (South Siberia, Russia). The Altaians are the indigenous Asian population of the Altai Mountain region considered as a melting-pot and a dispersion center for world-wide human expansions in the past.

Methods: A total of 76 patients of Altaian, Russian or mixed ethnicity and 130 Altaian controls were analyzed by PCR-DHPLC and sequencing in the GJB2 gene. The GJB6 deletion and the common non-syndromic deafness-causing mitochondrial mutations were also tested when appropriate.

Results: 8.3% of the Altaian chromosomes were carrying GJB2 mutations versus 46.9% of the Russian chromosomes. The 235delC mutation was predominant among Altaians, whereas the 35delG mutation was most prevalent among Russian patients.

Conclusion: We found an Asian-specific GJB2 diversity among Altaians, and different GJB2 contribution for deafness in the Altaian and Russian patients. The high carrier frequency of 235delC in Altaians (4.6%) is probably defined by gene drift/founder effect in a particular group. The question whether the Altai region could be one of founder sources for the 235delC mutation widespread in Asia is open.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Connexin 26
  • Connexins / genetics
  • DNA Mutational Analysis
  • Deafness / ethnology
  • Deafness / genetics*
  • Female
  • Genetic Testing*
  • Humans
  • Male
  • Middle Aged
  • Mitochondria / genetics
  • Siberia / ethnology


  • Connexins
  • GJB2 protein, human
  • Connexin 26