title: First molecular screening of deafness in the Altai Republic population.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia. posukh@bionet.nsc.ru <posukh@bionet.nsc.ru>
authors.forename: Olga
authors.initials: O
authors.lastname: Posukh
authors.forename: Nathalie
authors.initials: N
authors.lastname: Pallares-Ruiz
authors.forename: Vera
authors.initials: V
authors.lastname: Tadinova
authors.forename: Ludmila
authors.initials: L
authors.lastname: Osipova
authors.forename: Mireille
authors.initials: M
authors.lastname: Claustres
authors.forename: Anne-Françoise
authors.initials: AF
authors.lastname: Roux
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D004252:DNA Mutational Analysis; D003638:Deafness / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics; D012800:Siberia / Q000208:ethnology
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26