PCR test for diagnosis of the common GJB2 (connexin 26) 35delG mutation on dried blood spots and determination of the carrier frequency in France.

Abstract excerpt

Mutations in the gene encoding connexin 26 (Cx26) have been shown to be a major cause of non-syndromic recessive deafness (NSRD), and a single mutation 35delG in the Cx26 gene accounts for the majority of NSRD in different European populations. To screen for this mutation we developed an easier and more reliable method based on the principle of PCR mutation-specific primers. We tested 512 French neonates using...

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