Prevalence of GJB2 gene mutation 35delG among healthy population of Northwest Region of Russia

Mutation 35delG of GJB2 gene is a major genetic factor of hereditary recessive prelingual deafness in Caucasian population. This study investigated heterozygous carrier prevalence of the mutation among healthy native population of Northwest region of Russia. DN A analysis was carried out on blood material from inhabitants (n=1153) of Arkhangelsk, Pskov, Saint Petersburg and Kaliningrad region. The prevalence of heterozygous 35delG/GJB2 mutation in healthy individuals was found to be 5.0%, 4.7%, 5.5%, and 7.5%, respectively, which is considerably higher than the average prevalence in Europe. Possible causes of such high prevalence of the 35delG/GJB2 mutation are discussed.