Extremely high frequency of heterozygous carriers of an autosomal recessive deafness 1A type in Eastern Siberia, comparable with the frequency of heterozygous carriers of sickle cell anemia in Africa
Abstract
This study presents data on the carrier frequency of IVS1+1G>A mutation in GJB2 gene, leading to an autosomal recessive form of deafness among various ethno-geographical groups of Yakut population and in a random sample. Extremely high carrier frequency of the splice site IVS1+1G>A mutation in GJB2 gene in the Yakut population is comparable to the carrier frequency of the sickle-cell anemia in Africa, what may indicate a possible selective advantage of carriers of this IVS1+1G>A mutation in a subarctic climate.
Supporting agencies: This study was supported by the Russian Foundation for Basic Research (11-04-01221-а, 12-04-00342-а, 12-04-98520-r_vostok_a, 12-04-97004-r_povolzhye_a, 12-04-31230-mol_a), Federal Program «Scientific and educational staff for innovative Russia» (#16.740.11.0190, #16.740.11.0346), Integration project of SB RAS № 92 "Ethnogeny of indigenous peoples in Siberia and North Asia: comparative, historical, ethno -social and genomic analysis”, and the Sakha Republic President Grant #79 for Young Researchers for 2013 year (RP #79 08.02.2013).
About the Authors
N. A. Barashkov
FGBU "Yakut Scientific Center of Complex Medical Problems", Siberian Branch of the Russian Academy of Medical Sciences
Россия
Россия
Barashkov Nikolai Alexeevich- PhD, Researcher, Laboratory of Molecular Genetics
677010, Sergelyakhskoe highway, 4, Yakutsk, Republic of Sakha (Yakutia), Office tel. / Fax: 8-(4112)-32-19-81
A. V. Solovyev
Federal State Autonomous Educational Institution of Higher Professional Education "North- Eastern Federal University named after M.K. Ammosov"
Россия
Россия
Solovyev Aisen Vasilievich - Research Engineer, Research Laboratory of Molecular Biology, Institute of Natural Sciences
677010, st. Kulakovskogo, 36, Yakutsk, Republic of Sakha (Yakutia), Office tel.: 8- (4112) 49-68-42
F. M. Teryutin
FGBU "Yakut Scientific Center of Complex Medical Problems", Siberian Branch of the Russian Academy of Medical Sciences
Россия
Россия
Teryutin Fyodor Mikhailovich- Junior Researcher, Laboratory of Molecular Genetics
677010, Sergelyakhskoe highway, 4, Yakutsk, Republic of Sakha (Yakutia), Office tel.: 8-(4112) -32-14-73
N. A. Solovyova
FGBU "Yakut Scientific Center of Complex Medical Problems", Siberian Branch of the Russian Academy of Medical Sciences
Россия
Россия
Solovyova Natalia Alexeevna - PhD, Associate Researcher, Laboratory of Molecular Genetics
677010, Sergelyakhskoe highway, 4, Yakutsk, Republic of Sakha (Yakutia), Off. tel. / fax: 8-(4112) -32-19-81
V. G. Pshennikova
FGBU "Yakut Scientific Center of Complex Medical Problems", Siberian Branch of the Russian Academy of Medical Sciences
Россия
Россия
Pshennikova Vera Gennad’evna - Research Assistant, Laboratory of Molecular Genetics
677010, Sergelyakhskoe highway, 4, Yakutsk, Republic of Sakha (Yakutia), Office tel. / fax: 8-(4112)-32-19-81
L. A. Clarov
State Budget Institution of the Republic of Sakha (Yakutia) Republic hospital number 2 - Center for Emergency Medicine
Россия
Россия
Clarov Leonid Alexandrovich - head of the Magnetic Resonance Imaging
677005, Pyotr Alexeyev Str. 83, Yakutsk, Yakutsk, Republic of Sakha (Yakutia), Office tel.: 8-(4112) 43-24-29
O. G. Sidorova
FGBU "Yakut Scientific Center of Complex Medical Problems", Siberian Branch of the Russian Academy of Medical Sciences
Россия
Россия
Sidorova Oksana Gavrilevna - Junior Researcher, Laboratory of Molecular Genetics
677010, Sergelyakhskoe highway, 4, Yakutsk, Republic of Sakha (Yakutia), Office tel.: 8-(4112) -32-14-73
L. V. Grigorieva
FGBU "Yakut Scientific Center of Complex Medical Problems" , Siberian Branch of the Russian Academy of Medical Sciences
Россия
Россия
Grigorieva Lena Valer’evna - MD, PhD, Head of the Laboratory of Immunopathology
677010, Sergelyakhskoe highway, 4, Yakutsk, Republic of Sakha (Yakutia), Office tel. / Fax: 8-(4112) -32-19-81
G. P. Romanov
Federal State Autonomous Educational Institution of Higher Professional Education "North- Eastern Federal University named after M.K. Ammosov"
Россия
Россия
Romanov Georgy Prokopievich - Research Assistant, Research Laboratory of Molecular Biology, Institute of Natural Sciences
677010, st. Kulakovskogo 36, Yakutsk, Republic of Sakha (Yakutia), Office tel.: 8- (4112) 49-68-42
N. N. Gotovtsev
Federal State Autonomous Educational Institution of Higher Professional Education "North- Eastern Federal University named after M.K. Ammosov"
Россия
Россия
Gotovtsev Nyurgun Naumovich - a student of the Institute of Natural Sciences
677000, st. Kulakovskogo , 48, Yakutsk, Republic of Sakha (Yakutia)
K. E. Savvinova
Federal State Autonomous Educational Institution of Higher Professional Education «North- Eastern Federal University named after M.K. Ammosov"
Россия
Россия
Savvinova Kyunney Egorovna - a student of the Institute of Natural Sciences
677000, st. Kulakovskogo, 48, Yakutsk, Republic of Sakha (Yakutia)
S. S. Nakhodkin
Federal State Autonomous Educational Institution of Higher Professional Education "North- Eastern Federal University named after M.K. Ammosov"
Россия
Россия
Nakhodkin Sergey Sergeevich - Junior Researcher, Research Laboratory of Molecular Biology, Institute of Natural Sciences
677010, st. Kulakovskogo, 36, Yakutsk, Republic of Sakha (Yakutia), Office tel.: 8- (4112) 49-68-42
A. A. Kozhevnikov
State Budget Institution of the Republic of Sakha (Yakutia) Republic hospital number 2 - Center for Emergency Medicine
Россия
Россия
Kozhevnikov Alexander Alexandrovich - Director of the National Center of occupational diseases
677005, Pyotr Alexeyev, 83, Yakutsk, Republic of Sakha (Yakutia), Office tel.: 8-(4112) 43-24-29
L. M. Vasilyeva
State Budget Institution of the Republic of Sakha (Yakutia), Republic hospital number 1 - The National Center of Medicine
Россия
Россия
Vasilyeva Lena Maksimovna - surdopedagog, Republican Surdologopedical Center
677010, Sergelyakhskoe highway, 4, Yakutsk, Republic of Sakha (Yakutia), Office tel . : 8-(4112) 39-53-20
E. E. Fedotova
State Budget Institution of the Republic of Sakha (Yakutia) Republic hospital number 1 - The National Center of Medicine
Россия
Россия
Fedotova Elvira Egorovna - MD, a physician audiologist, otolaryngologist, chief out-of-staff specialist audiologist of the Ministry of Health of the Republic of Sakha ( Yakutia), Head of the Republican surdologopedichal Center
677010, Sergelyakhskoe highway, 4, Yakutsk, Republic of Sakha (Yakutia), Office tel.: 8-(4112) 39-53-20
M. V. Pak
Medical Institute, Federal State Autonomous Educational Institution of Higher Professional Education "North- Eastern Federal University named after M.K. Ammosov"
Россия
Россия
Pak Maria Vladimirovna - graduate student
677010, st. Oyunskiy, 27, Yakutsk, Republic of Sakha (Yakutia), Office tel.: 8-(4112) 36-30-46
S. N. Lekhanova
Institute of Medicine, Federal State Autonomous Educational Institution of Higher Professional Education "North- Eastern Federal University named after M.K. Ammosov"
Россия
Россия
Lekhanova Sargylana Nikolaevna - PhD, Associate Professor
677010, st. Oyunskiy, 27, Yakutsk, Republic of Sakha (Yakutia), Office tel.: 8-(4112) 36-30-46
S. K. Kononova
Federal State Institution "Yakut Scientific Center complex medical problems" the Siberian Branch of the Russian Academy of Medical Sciences
Россия
Россия
Kononova Sardana Kononovna - PhD, Senior Researcher, Laboratory of Molecular Genetics
677010, Sergelyakhskoe highway, 4 Yakutsk, Republic of Sakha (Yakutia), tel / fax: (4112) 32-19-81
A. M. Raphailov
Federal State Autonomous Educational Institution of Higher Professional Education "North- Eastern Federal University named after M.K. Ammosov"
Россия
Россия
Raphailov Adyum Mikhajlovich - PhD, associate professor, Department of Biology, Faculty of Biology and Geography
677010, st. Kulakovskogo , 48, Yakutsk, Republic of Sakha (Yakutia), Tel.: 8- (4112) 49-68-42
A. N. Alekseev
Federal State Institution of Science Institute of Humanitarian Research and Indigenous Peoples of the North, Siberian Branch of the Russian Academy of Sciences
Россия
Россия
Alekseev Anatoly Nikolaevich- PhD, Professor, Director
677007, Yakutsk, st. Petrovsky, 1, Republic of Sakha (Yakutia), tel / fax : 8 ( 4112 ) 39-00-36
O. L. Posukh
Federal State Institution of Science Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences
Россия
Россия
Posukh Olga Leonidovna - PhD, Senior Scientist, Laboratory of Human Molecular Genetics
Novosibirsk, 630090, Lavrentiev avenue, 10, tel.: 8 (383) 363-49-44 (2210), Fax: 8-(383) 333-12-78
L. U. Dzhemileva
Federal State Institution of Science Institute of Biochemistry and Genetics, Ufa Scientific Center of the Russian Academy of Sciences
Россия
Россия
Dzhemileva Lily Useinovna - Ph.D., Senior Scientist, Laboratory of Human Molecular Genetics
450054, pr October, 71, Ufa,Russia. tel / fax : 8-( 3472 ) 35-60-88
E. K. Khusnutdinova
Federal State Institution of Science Institute of Biochemistry and Genetics, Ufa Scientific Center of the Russian Academy of Sciences
Россия
Россия
Khusnutdinova Elsa Kamilevna - Ph.D., Professor, Head of Genomics Dep.
450054 , pr October, 71 Ufa, Russia. tel / fax : 8-( 3472 ) 35-60- 88
S. A. Fedorova
FGBU "Yakut Scientific Center of Complex Medical Problems", Siberian Branch of the Russian Academy of Medical Sciences
Россия
Россия
Fedorova Sardana Arkadevna - Ph.D., Head of Laboratory of Molecular Genetics
677010, Sergelyakhskoe highway, 4, Yakutsk, Republic of Sakha (Yakutia). Office tel. / Fax: 8-(4112) 32-19-81
References
1. Block architecture of the ancestral haplotype of the splice site mutation IVS1 +1 G> A gene GJB2 (Cx26), in the Yakut population (as of 7 SNP-markers) / A.V. Soloviev, N.A. Barashkov, L.Y. Dzhemileva [et al.] // International Conference “Highthroughput sequencing in genomics” HGS-2013.- Novosibirsk, Russia, July 21-25.- 2013.- p. 81.
2. Allison A.C. Protection afforded by sicklecell trait against Subtertian malarial infection / A.C. Allison, D. Phil // British Med. J.-1954.- Feb.6.-P. 290-294.
3. Allison A.C. Malaria in Carriers of the SickleCell Trait and in Newborn Children / A.C. Allison // Experimental parasitology.-1957.-Vol.6.-P. 418- 447.
4. An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals / G.A. Lazarin, I.S. Haque, S. Nazareth [et al.] // Genet Med.-2013.-Vol.15.-P. 178-86.
5. Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect / N.A. Barashkov, L.U. Dzhemileva, S.A. Fedorova [et al.] // Journal of Human Genetics.- 2011.-Vol. 56, №8.-P.631-639.
6. Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans / L. Zelante, P. Gasparini, X. Estivill [et al.] // Hum. Mol. Genet.- 1997.-Vol. 6.-P. 1605-1609.
7. Connexin 26 mutations in hereditary nonsyndromic sensorineural deafness / D.P. Kelsell, J. Dunlop, H.P. Stevens [et al.] // Nature.-1997.- Vol. 387, №6628.-P. 80-83.
8. Global distribution of the sickle cell gene and geographical confirmation of the malaria hypothesis / F.B. Piel, A.P. Patil, R.E. Howes [et al.] // Nat Commun.-2010.-DOI: 10.1038/ncomms1104.
9. Global epidemiology of sickle haemoglobin in neonates: a contemporary geostatistical modelbased map and population estimates / F.B. Piel, A.P. Patil, R.E. Howes [et al.] // Lancet.-2013.-Vol. 381.-Р. 142-151.
10. Modell B. Global epidemiology of haemoglobin disorders and derived service indicators / B. Modell, M. Darlison // Bull World Health Organ.-2008.-Vol. 86, №6.-Р. 480-7.
11. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss / P.M. Kelley, D.J. Harris, B.C. Comer [et al.] // Am. J. Hum. Genet.-1998.-Vol. 62, №4.- P. 792-799.
12. Sirmaci A. The c. IVS1+1G>A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population / A. Sirmaci, D. Akcayozduman, M. Tekin // Journal of Genetics (Indian academy of sciences).-2006.-Vol. 85, №3.-P.213-216.
13. Weatherall D.J. Inherited haemoglobin disorders: an increasing global health problem / D.J. Weatherall, J.B. Clegg // Bull World Health Organ.-2001.-Vol. 79, №8.-P.704-12.
14. Web site NCBI (OMIM) Web site NCBI (OMIM): (http://omim.org/entry/220290), (http://omim.org/entry/121011).
Review
For citations:
Barashkov N.A., Solovyev A.V., Teryutin F.M., Solovyova N.A., Pshennikova V.G., Clarov L.A., Sidorova O.G., Grigorieva L.V., Romanov G.P., Gotovtsev N.N., Savvinova K.E., Nakhodkin S.S., Kozhevnikov A.A., Vasilyeva L.M., Fedotova E.E., Pak M.V., Lekhanova S.N., Kononova S.K., Raphailov A.M., Alekseev A.N., Posukh O.L., Dzhemileva L.U., Khusnutdinova E.K., Fedorova S.A. Extremely high frequency of heterozygous carriers of an autosomal recessive deafness 1A type in Eastern Siberia, comparable with the frequency of heterozygous carriers of sickle cell anemia in Africa. Yakut Medical Journal. 2013;(4):27-30.
Views:
42
JATS XML
Email this article 