Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method

Hum Mutat. 1999;14(3):263-6. doi: 10.1002/(SICI)1098-1004(1999)14:3<263::AID-HUMU10>3.0.CO;2-X.


Mutations in the gene GJB2, encoding the gap-junction protein connexin-26, have been shown to be a major cause of nonsyndromic recessive deafness (NSRD). A single mutation in the GJB2 gene accounts for the majority of NSRD in many different populations. This mutation represents a deletion of a guanine within a stretch of six Gs between nucleotide positions +30 and +35 of the GJB2 cDNA (35delG). Molecular detection of the 35delG mutation is usually performed by direct sequencing analysis of PCR products, or by allele-specific PCR analysis. To screen for this mutation, we developed an easier and more reliable method, based on the principle of PCR-mediated site-directed mutagenesis (PSDM), followed by a BsiYI digestion. We tested 360 unrelated unaffected Belgian individuals for heterozygosity of the 35delG mutation and found a carrier frequency of 1 in 40 (95% CI, 1 in 30 to 1 in 60). As our new screening method is simple and reliable in use, and detects a mutation responsible for a significant part of NSRD, it may find widespread use in DNA diagnostics.

MeSH terms

  • Belgium
  • Binding Sites / genetics
  • Connexin 26
  • Connexins / genetics*
  • DNA Primers
  • DNA Restriction Enzymes / metabolism
  • Deafness / diagnosis
  • Deafness / genetics
  • Gene Frequency / genetics
  • Genes, Recessive
  • Genetic Carrier Screening / methods*
  • Genetic Testing / methods*
  • Humans
  • Mutagenesis, Site-Directed
  • Point Mutation
  • Polymerase Chain Reaction


  • Connexins
  • DNA Primers
  • GJB2 protein, human
  • Connexin 26
  • DNA Restriction Enzymes