Connexin 26 (GJB2) mutations in the Turkish population: Implications for the origin and high frequency of the 35delG mutation in Caucasians

M. Tekin, N. Akar, Ş Cin, S. H. Blanton, X. J. Xia, X. Z. Liu, W. E. Nance, A. Pandya

Research output: Contribution to journalArticle

59 Scopus citations

Abstract

Mutations in the Connexin 26 (GJB2/Cx26) gene are responsible for more than half of all cases of prelingual non-syndromic recessive deafness in many Caucasian populations. To determine the importance of Cx26 mutations as a cause of deafness in Turks we screened 11 families with prelingual non-syndromic deafness, seven (64%) of which were found to carry the 35delG mutation. We subsequently screened 674 Turkish subjects with no known hearing loss and found twelve 35delG heterozygotes (1.78%; 95% confidence interval: 0.9%-3%) but no examples of the 167delT mutation. To search for possible founder effects, we typed chromosomes carrying the 35delG mutation for closely linked polymorphic markers in samples from Turkey and United States and compared the allele frequencies with those of hearing subjects. The data showed a modest degree of disequilibrium in both populations. Analyses of two pedigrees from Turkey demonstrated both conserved and different haplotypes, suggesting possible founder effects and multiple origins of the 35delG mutation.

Original languageEnglish (US)
Pages (from-to)385-389
Number of pages5
JournalHuman Genetics
Volume108
Issue number5
DOIs
StatePublished - Jan 1 2001
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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