Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia

Mustafa Tekin, G. Boǧoclu, S. T. Arican, M. N. Orman, H. Tastan, S. Elsayed, N. Akar

Research output: Contribution to journalArticle

31 Scopus citations

Abstract

Eighteen different sequence changes, including three novel alterations, were detected in GJB2, encoding connexin 26, in 371 Turkish probands with non-syndromic sensorineural hearing loss. Two frequently detected mutations, 35delG and delE120, were shown to have single origins based on the conserved genotypes of two closely linked microsatellite and five single nucleotide polymorphism markers. Carrier frequencies of 35delG and delE120 in Egypt and Turkic populations of the Near East provide insights about the origin of these two mutations.

Original languageEnglish (US)
Pages (from-to)31-37
Number of pages7
JournalClinical Genetics
Volume67
Issue number1
DOIs
StatePublished - Jan 1 2005
Externally publishedYes

Keywords

  • Connexin 26
  • Deafness
  • Founder effect
  • Hearing loss

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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