Multiplex detection of common mutations in the Connexin-26 gene

Genet Test. 2003 Spring;7(1):63-5. doi: 10.1089/109065703321560967.

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.

MeSH terms

  • Connexin 26
  • Connexins / genetics*
  • DNA Mutational Analysis / economics
  • DNA Mutational Analysis / methods*
  • Deafness / genetics*
  • Humans
  • Mutation / genetics*
  • Polymerase Chain Reaction
  • Reproducibility of Results

Substances

  • Connexins
  • Connexin 26