High Frequency of the p.R34X Mutation in the TMC1 Gene Associated with Nonsyndromic Hearing Loss Is Due to Founder Effects
نویسندگان
چکیده
منابع مشابه
High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.
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 an...
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mutations in the gjb2 gene are the most common known cause of hereditary congenital hearing loss. rapid genomic dna extraction (rgde) method was used for genomic dna extraction. after amplification of coding region of cx26 gene with specific primers, expected pcr products with 724bp length were subjected to direct sequencing in both directions. we describe here a novel heterozygous -t to -c tra...
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ژورنال
عنوان ژورنال: Genetic Testing and Molecular Biomarkers
سال: 2010
ISSN: 1945-0265,1945-0257
DOI: 10.1089/gtmb.2009.0174