Определение частоты гетерозиготного носительства мутаций гена GJB2 в популяционной выборке ЭССЕ-Вологда

Non-syndromic hearing loss (NSHL) is one of the most prevalent inherited sensory disorder, mutations in GJB2 gene represent a major cause of NSHL worldwide. The aim of the work was to determine frequency mutations in GJB2 gene among 642 participants from a population-based cohort study ESSE-Vologda. Genotypes were determined by the TaqMan OpenArray Genotyping platform on the QuantStudio 12K Flex Real-Time PCR System. The genotypes of 642 samples were determined and 39 carriers of mutations in the GJB2 gene were detected, the frequency of heterozygous mutations in the sample was 6.07% (CI95%: 4.36-8.21%) or 1:16. The high frequency mutations in the GJB2 gene associated with NSHL indicates the potential for preventive screening in young families planning children.