Opinion of young people on the potential risk of the birth of deaf child

In Yakutia, the contribution of GJB2 mutations to the etiology of hereditary deafness is 48.8% and is one of the highest in Asia, due to a significant accumulation of the mutation of the splice site c.-23+1G>A in the GJB2 gene due to the founder effect in the Yakut population (“age” of mutation ~ 800 years). The results of scientific research in the field of genetic forms of deafness are actively introduced into practice in the form of various test systems of routine DNA diagnostics. However, the bioethical, social and psychological problems arising from the application of these genetic technologies are less well understood than the molecular genetic aspects of deafness. We conducted a questionnaire and a selection of buccal epithelium of 241 people, whose mean age is 21, in order to analyze their opinion on the potential risk of a deaf child’s birth and conduct genetic testing for the presence of the mutation c.-23+1G>A in the GJB2 gene. The frequency of heterozygous carriage of the mutation c.-23+1G>A of the GJB2 gene among hearing young people (n = 241) in the Yakut population was 10.8%, which is comparable to the previously obtained data. Analysis of data from the questionnaire with genotypes shows that there are no statistically significant differences in the respondents’ responses (p>0.05). As a result of the questionnaire, it is shown that most young hearing people think that deafness can be a hereditary disease (62.6%). Most young people assume the possibility of birth of a deaf child from hearing parents (81.33%), but only 2.49% of respondents agree with this risk. Such an answer can be explained by the protective internals of the psyche, when a person assumes the existence of the same risk of the birth of a deaf child in all people, but denies such a possibility in himself.

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