title: Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia.
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.
authors.affiliation: Division of Pediatric Molecular Genetics, Ankara University School of Medicine, Ankara, Turkey. mtekin@medicine.ankara.edu.tr
authors.forename: M
authors.initials: M
authors.lastname: Tekin
authors.forename: G
authors.initials: G
authors.lastname: Boğoclu
authors.forename: S T
authors.initials: ST
authors.lastname: Arican
authors.forename: M N
authors.initials: MN
authors.lastname: Orman
authors.forename: H
authors.initials: H
authors.lastname: Tastan
authors.forename: E
authors.initials: E
authors.lastname: Elsobky
authors.forename: S
authors.initials: S
authors.lastname: Elsayed
authors.forename: N
authors.initials: N
authors.lastname: Akar
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D005787:Gene Frequency; D005819:Genetic Markers; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D019371:Topography, Medical; D014421:Turkey
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D005819:Genetic Markers; D000072259:Connexin 26