1. Selective Heterozygous Advantage of Carriers of ั.-23+1G>A Mutation in GJB2 Gene Causing Autosomal Recessive Deafness 1A.
- Author
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Solovyev AV, Barashkov NA, Teryutin FM, Pshennikova VG, Romanov GP, Rafailov AM, Sazonov NN, Dzhemileva LU, Tomsky MI, Posukh OL, Khusnutdinova EK, and Fedorova SA
- Subjects
- Adolescent, Adult, Cold Temperature, Connexin 26, Disease Resistance genetics, Disease Resistance physiology, Female, Heterozygote, Homozygote, Humans, Intestinal Mucosa physiology, Male, Siberia, Young Adult, Connexins genetics, Epidermis physiology, Gene Frequency genetics, Hearing Loss, Sensorineural genetics
- 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.
- Published
- 2019
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