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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects
Genetic Testing and Molecular Biomarkers, Volume 14, No. 3, Year 2010
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Description
Founder mutations, particularly 35delG in the GJB2 gene, have to a large extent contributed to the high frequency of autosomal recessive nonsyndromic hearing loss (ARNSHL). Mutations in transmembrane channel-like gene 1 (TMC1) cause ARNSHL. The p.R34X mutation is the most frequent known mutation in the TMC1 gene. To study the origin of this mutation and determine whether it arose in a common ancestor, we analyzed 21 polymorphic markers spanning the TMC1 gene in 11 unrelated individuals from Algeria, Iran, Iraq, Lebanon, Pakistan, Tunisia, and Turkey who carry this mutation. In nine individuals, we observed significant linkage disequilibrium between p.R34X and five polymorphic markers within a 220kb interval, suggesting that p.R34X arose from a common founder. We estimated the age of this mutation to be between 1075 and 1900 years, perhaps spreading along the third Hadramaout population movements during the seventh century. A second founder effect was observed in Turkish and Lebanese individuals with markers in a 920kb interval. Screening for the TMC1 p.R34X mutation is indicated in the genetic evaluation of persons with ARNSHL from North African and Southwest Asia. © Copyright 2010, Mary Ann Liebert, Inc. 2010.
Authors & Co-Authors
Ben Saïd, Mariem
Tunisia, Sfax
Centre de Biotechnologie de Sfax
Hmani-Aifa, Mounira
Tunisia, Sfax
Centre de Biotechnologie de Sfax
Amar, Imen
Tunisia, Sfax
Centre de Biotechnologie de Sfax
Algeria, Algiers
Université Des Sciences et de la Technologie Houari Boumediene
Baig, Shahid Mahmood
Pakistan, Faisalabad
National Institute for Biotechnology and Genetic Engineering Pakistan
Mustapha, Mirna
United States, Ann Arbor
University of Michigan Medical School
United States, Stanford
Stanford University School of Medicine
Delmaghani, Sedigheh
France, Paris
Inserm
Tlili, Abdelaziz
Tunisia, Sfax
Centre de Biotechnologie de Sfax
Ghorbel, Abdelmonem
Tunisia, Sfax
Chu Habib Bourguiba
Ayadi, Hammadi
Tunisia, Sfax
Centre de Biotechnologie de Sfax
van Camp, Guy V.
Belgium, Antwerpen
Universiteit Antwerpen
Smith, Richard J.H.
United States, Iowa City
University of Iowa Healthcare
Tekin, Mustafa
Turkey, Ankara
Ankara Üniversitesi
United States, Miami
University of Miami Leonard M. Miller School of Medicine
Masmoudi, Saber
Tunisia, Sfax
Centre de Biotechnologie de Sfax
Statistics
Citations: 40
Authors: 13
Affiliations: 11
Identifiers
Doi:
10.1089/gtmb.2009.0174
ISSN:
19450265
e-ISSN:
19450257
Research Areas
Cancer
Disability
Genetics And Genomics
Study Design
Cross Sectional Study
Study Locations
Algeria
Tunisia