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


TEKİN M., BOGOCLU G., ARİCAN S., Orman M. N. , TASTAN H., ELSAYED S.

CLINICAL GENETICS, vol.67, no.1, pp.31-37, 2005 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 67 Issue: 1
  • Publication Date: 2005
  • Doi Number: 10.1111/j.1399-0004.2004.00334.x
  • Title of Journal : CLINICAL GENETICS
  • Page Numbers: pp.31-37

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 15delG and delE120 in Egypt and Turkic populations of the Near East provide insights about the origin of these two mutations.