Literature DB >> 15617546

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

M Tekin1, G Boğoclu, S T Arican, M N Orman, H Tastan, E Elsobky, S Elsayed, N Akar.   

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.

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Year:  2005        PMID: 15617546     DOI: 10.1111/j.1399-0004.2004.00334.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  12 in total

1.  Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy.

Authors:  Berrin Yüksel-Konuk; Aslı Sırmacı; Gülen Ece Ayten; Mustafa Özdemir; İdil Aslan; Ülkü Yılmaz-Turay; Yurdanur Erdoğan; Mustafa Tekin
Journal:  Rheumatol Int       Date:  2009-11       Impact factor: 2.631

2.  BanI/D13S141/D13S175 represents a novel informative haplotype at the GJB2 gene region in the Iranian population.

Authors:  Halimeh Rezaei; Sadeq Vallian
Journal:  Cell Mol Neurobiol       Date:  2011-04-12       Impact factor: 5.046

3.  Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation.

Authors:  Jiann-Jou Yang; Wen-Hung Wang; Yen-Chun Lin; Hsu-Huei Weng; Jen-Tsung Yang; Chung-Feng Hwang; Che-Min Wu; Shuan-Yow Li
Journal:  Hum Genet       Date:  2010-07-01       Impact factor: 4.132

4.  Analysis of p.Gly12Valfs*2, p.Trp24* and p.Trp77Arg mutations in GJB2 and p.Arg81Gln variant in LRTOMT among non syndromic hearing loss Egyptian patients: implications for genetic diagnosis.

Authors:  Abdullah A Gibriel; Maha H Abou-Elew; Saber Masmoudi
Journal:  Mol Biol Rep       Date:  2019-02-07       Impact factor: 2.316

5.  The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas.

Authors:  Hande Küçük Kurtulgan; Emine Elif Altuntaş; Malik Ejder Yıldırım; Öztürk Özdemir; Binnur Bağcı; İlhan Sezgin
Journal:  J Int Adv Otol       Date:  2019-12       Impact factor: 1.017

6.  Did the GJB2 35delG mutation originate in Iran?

Authors:  Vahideh Norouzi; Hiva Azizi; Zohreh Fattahi; Fatemehsadat Esteghamat; Niloofar Bazazzadegan; Carla Nishimura; Nooshin Nikzat; Khadijeh Jalalvand; Kimia Kahrizi; Richard J H Smith; Hossein Najmabadi
Journal:  Am J Med Genet A       Date:  2011-09-09       Impact factor: 2.802

7.  GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals.

Authors:  Elif Baysal; Yildirim A Bayazit; Serdar Ceylaner; Necat Alatas; Buket Donmez; Gulay Ceylaner; Imran San; Baki Korkmaz; Akin Yilmaz; Adnan Menevse; Senay Altunyay; Bulent Gunduz; Nebil Goksu; Ahmet Arslan; Abdullah Ekmekci
Journal:  J Genet       Date:  2008-04       Impact factor: 1.166

8.  Research of genetic bases of hereditary non-syndromic hearing loss.

Authors:  Aslı Subaşıoğlu; Duygu Duman; Aslı Sırmacı; Güney Bademci; Fehime Carkıt; Mehmet Akif Somdaş; Mustafa Erkan; Mustafa Tekin; Munis Dündar
Journal:  Turk Pediatri Ars       Date:  2017-09-01

9.  The c.IVS1+1G>A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population.

Authors:  Asli Sirmaci; Duygu Akcayoz-Duman; Mustafa Tekin
Journal:  J Genet       Date:  2006-12       Impact factor: 1.508

10.  High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect.

Authors:  Marina V Zytsar; Marita S Bady-Khoo; Valeriia Yu Danilchenko; Ekaterina A Maslova; Nikolay A Barashkov; Igor V Morozov; Alexander A Bondar; Olga L Posukh
Journal:  Genes (Basel)       Date:  2020-07-21       Impact factor: 4.096

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