دورية أكاديمية
Selective Heterozygous Advantage of Carriers of с.-23+1G>A Mutation in GJB2 Gene Causing Autosomal Recessive Deafness 1A.
| العنوان: | Selective Heterozygous Advantage of Carriers of с.-23+1G>A Mutation in GJB2 Gene Causing Autosomal Recessive Deafness 1A. |
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| المؤلفون: | Solovyev AV; Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University, Yakutsk, Russia. nelloann@mail.ru.; Yakut Science Centre of Complex Medical Problems, Yakutsk, Russia. nelloann@mail.ru., Barashkov NA; Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University, Yakutsk, Russia.; Yakut Science Centre of Complex Medical Problems, Yakutsk, Russia., Teryutin FM; Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University, Yakutsk, Russia.; Yakut Science Centre of Complex Medical Problems, Yakutsk, Russia., Pshennikova VG; Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University, Yakutsk, Russia.; Yakut Science Centre of Complex Medical Problems, Yakutsk, Russia., Romanov GP; Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University, Yakutsk, Russia.; Yakut Science Centre of Complex Medical Problems, Yakutsk, Russia., Rafailov AM; Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University, Yakutsk, Russia., Sazonov NN; Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University, Yakutsk, Russia., Dzhemileva LU; Institute of Biochemistry and Genetics, Ufa Federal Research Center, Russian Academy of Sciences, Ufa, Russia., Tomsky MI; Yakut Science Centre of Complex Medical Problems, Yakutsk, Russia., Posukh OL; Federal Research Center Institute of Cytology and Genetics, Siberian Division of the Russian Academy of Sciences, Novosibirsk, Russia., Khusnutdinova EK; Institute of Biochemistry and Genetics, Ufa Federal Research Center, Russian Academy of Sciences, Ufa, Russia.; Bashkir State University, Ufa, Russia., Fedorova SA; Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University, Yakutsk, Russia.; Yakut Science Centre of Complex Medical Problems, Yakutsk, Russia. |
| المصدر: | Bulletin of experimental biology and medicine [Bull Exp Biol Med] 2019 Jul; Vol. 167 (3), pp. 380-383. Date of Electronic Publication: 2019 Jul 26. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Springer Country of Publication: United States NLM ID: 0372557 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-8221 (Electronic) Linking ISSN: 00074888 NLM ISO Abbreviation: Bull Exp Biol Med Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: New York : Springer Original Publication: New York, Consultants Bureau. |
| مواضيع طبية MeSH: | Connexins/*genetics , Epidermis/*physiology , Gene Frequency/*genetics , Hearing Loss, Sensorineural/*genetics, Adolescent ; Adult ; Cold Temperature ; Connexin 26 ; Disease Resistance/genetics ; Disease Resistance/physiology ; Female ; Heterozygote ; Homozygote ; Humans ; Intestinal Mucosa/physiology ; Male ; Siberia ; Young Adult |
| مستخلص: | 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. |
| فهرسة مساهمة: | Keywords: Eastern Siberia; gene GJB2; mutation c.-23+1G>A; selective heterozygous advantage; thickness of epidermis |
| المشرفين على المادة: | 0 (Connexins) 0 (GJB2 protein, human) 127120-53-0 (Connexin 26) |
| SCR Disease Name: | Deafness, Autosomal Recessive 1A |
| تواريخ الأحداث: | Date Created: 20190727 Date Completed: 20200101 Latest Revision: 20211204 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1007/s10517-019-04531-y |
| PMID: | 31346875 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1573-8221 |
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| DOI: | 10.1007/s10517-019-04531-y |