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- Title
Selective Heterozygous Advantage of Carriers of с.-23+1G>A Mutation in GJB2 Gene Causing Autosomal Recessive Deafness 1A.
- Authors
Solovyev, A. V.; Barashkov, N. A.; Teryutin, F. M.; Pshennikova, V. G.; Romanov, G. P.; Rafailov, A. M.; Sazonov, N. N.; Dzhemileva, L. U.; Tomsky, M. I.; Posukh, O. L.; Khusnutdinova, E. K.; Fedorova, S. A.
- Abstract
We present the results of analysis of skin epidermis thickness in individuals with recessive mutation c.-23+1G>A in the GJB2 gene in comparison with individuals without this mutation living in Eastern Siberia (Yakut population). We examined 152 individuals with different genotypes by GJB2 gene mutation c.-23+1G>A. Homozygotes and heterozygotes by c.-23+1G>A have thicker epidermal layer (0.245 mm and 0.269 mm, respectively) in comparison with individuals without this mutation (0.193 mm) (p<0.05). The obtained data support the hypothesis about selective advantage of carriers of mutant GJB2 gene alleles and partly explain extremely high carrier frequency (10.3%) of c.-23+1G>A mutation in the GJB2 gene in Yakut population in Eastern Siberia.
- Subjects
SIBERIA (Russia); GENETIC mutation; RECESSIVE genes; ALLELES; GENOTYPES; EPIDERMIS; GENETIC carriers
- Publication
Bulletin of Experimental Biology & Medicine, 2019, Vol 166, Issue 6, p380
- ISSN
0007-4888
- Publication type
Article
- DOI
10.1007/s10517-019-04531-y