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

Tekin M., Boǧoclu G., Arican S., Orman M., Tastan H., Elsayed S., ...Daha Fazla

Clinical Genetics, cilt.67, sa.1, ss.31-37, 2005 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 67 Sayı: 1
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1111/j.1399-0004.2004.00334.x
  • Dergi Adı: Clinical Genetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.31-37
  • Anahtar Kelimeler: Connexin 26, Deafness, Founder effect, Hearing loss
  • Gazi Üniversitesi Adresli: Hayır

Özet

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. © Blackwell Munksgaard, 2004.