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Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness

The GJB2 (connexin 26) gene, one of the major genes responsible for autosomal recessive deafness, has been investigated previously by a variety of techniques, including PCR‐SSCP and sequencing of the entire gene for screening of unknown mutations, and allele‐specific PCR, ASO, and PCR‐mediated site‐directed mutagenesis for the detection of the common mutation 35delG. Here, we present the development of a DGGE method for the characterization of the full spectrum of mutations in the GJB2 gene. The GJB2 cDNA and flanking sequences were amplified in three overlapping segments. We screened 26 Greek patients with prelingual, sensorineural deafness, where syndromic forms and environmental causes of deafness had been excluded. The 35delG mutation was detected in 28 chromosomes (53.8%), while another three sequence variations accounted for 7.6% of the alleles. The sequence variation R127H, previously described in a few Spanish and Balkan patients, was detected in two patients as the sole mutation. A novel sequence variation, K224Q, was identified as the sole mutation in one patient. Use of this approach may contribute to the full description of mutations in this important deafness gene. Hum Mutat 16:7–12, 2000. © 2000 Wiley‐Liss, Inc.