Genet Test. 2003 Spring;7(1):63-5.

Multiplex detection of common mutations in the Connexin-26 gene.

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Department of Molecular Biology and Genetics, Bogazici University, Bebek 80815, Istanbul, Turkey. barisibr@boun.edu.tr

Erratum in

Genet Test. 2003 Winter;7(4):;373.

Abstract

Hearing impairment that results from inherited genetic defects occurs in approximately 1/2,000 live births. Mutations in the Connexin-26 gene have been shown to be a major contributor to prelingual, nonsyndromic, autosomal recessive deafness in many populations. The most common mutations in this gene are 35delG, 167delT, 235delC, M34T, and W77X. We describe a nonisotopic, single-tube, polymerase chain reaction (PCR) multiplex system for the detection of these common mutations. The method presented is reliable, simple, and low in cost.

PMID:: 12820705; [PubMed - indexed for MEDLINE]

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