Detection of mutations in the GJB2 gene with MLPA probes in deaf heterozygotes

Sensorineural hearing loss is one of the most common defects and half the cases are related to genetic factors. Given the importance of GJB2 mutations in hearing loss, this study was performed to study the impact of this mutation on hearing loss in selected families suffering from deafness.

A descriptive study was performed on 8 GJB2 heterozygous family. From 5 to 10 cc of blood, DNA deposition method, saturated salt extraction kit was used for MLPA reaction and if the reaction was successful, Q size was measured.

Out of a total of 8 households that were eligible for this study, no gene deletion was found in GJB2 gene, GJB3 gene, or WFS1 gene.

It seems likely that mutations in other genes were responsible for deafness in these families.