Article
GJB2 c.-23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery - 1 Sept 2015
Zeinali Sirous, Davoudi-Dehaghani Elham, Azadmehr Sarah, DabbaghBagheri Samira, Bagherian Hamideh, Jamali Mojdeh, Zafarghandimotlagh Fatemeh, Masoodifard Mahboobeh, BandehiSarhaddi Ameneh, Rejali Leili, Sahebi Sepideh
Abstract excerpt
GJB2 mutation analysis is used routinely as a first step in genetic testing for autosomal recessive non-syndromic sensorineural hearing loss. Although most GJB2 mutations can be detected by sequencing of the exon 2 of this gene, a prevalent splice mutation, c.-23+1G>A (IVS1+1G>A), is not usually included in the analyzed region. In this study, we have developed an ARMS-PCR strategy for detection of this mutation...
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