Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia
- 22 December 2004
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 67 (1) , 31-37
- https://doi.org/10.1111/j.1399-0004.2004.00334.x
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.Keywords
This publication has 22 references indexed in Scilit:
- Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east AsiansHuman Genetics, 2003
- Language-tree divergence times support the Anatolian theory of Indo-European originNature, 2003
- Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probandsGenetics in Medicine, 2003
- Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: Roles of parental consanguinity and assortative matingHuman Mutation, 2003
- Screening of families with autosomal recessive non‐syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenarioAmerican Journal of Medical Genetics Part A, 2003
- Frequency of the 35delG mutation in the connexin 26 gene in Turkish hearing‐impaired patientsClinical Genetics, 2001
- A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairmentJournal of Medical Genetics, 2001
- Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German populationHuman Mutation, 2001
- Connexin 26 ( GJB2 ) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in CaucasiansHuman Genetics, 2001
- Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafnessNature Genetics, 1993