The use of buccal smears for a non-invasive screening of the 35delG mutation of the Connexin-26 gene in hearing impaired young children.

Objectives: Recent advances in genetic research indicate that about 50% of congenital deaf patients have a genetic background, with mutations in the Connexin-26 gene being the most frequent one. Screening methods for the genetic cause of deafness have so far mostly been based on the use of peripheral whole blood as DNA source. The use of buccal smears for the genetic screening of deaf patients presents an interesting alternative to drawing blood, especially in young children. In order to validate this method, we compared results from buccal smears from very young deaf children (age
Methods: The detection of the 35delG mutation in the Connexin-26 gene was chosen to demonstrate the method's feasibility. Blood and buccal smears were collected for genetic analysis from 29 very young deaf children (Group 1: age
Results: Quantitative DNA analysis showed that both sources provided adequate amounts of DNA for PCR. No significant difference was found between Group 1 and Group 2 considering either the DNA amount isolated from blood or from buccal smears. In all 60 patients, DNA isolated from blood revealed the same results concerning the presence of the 35delG mutation as DNA originating from buccal smears.

Conclusions: This study demonstrates that buccal smears are an adequate, reliable source of genomic DNA providing material for genetic tests that can especially help to avoid drawing blood from very young children for the genetic screening of deafness.