Acta NaturaeActa NaturaeActa Naturae2075-8251Acta Naturae Ltd1068010.32607/20758251-2011-3-3-52-63ArticlesСтатьиResearch ArticleHaplotype Diversity and Reconstruction of Ancestral Haplotype Associated with the c.35delG Mutation in the GJB2 (Cx26) Gene among the Volgo-Ural Populations of RussiaHaplotype Diversity and Reconstruction of Ancestral Haplotype Associated with the c.35delG Mutation in the GJB2 (Cx26) Gene among the Volgo-Ural Populations of RussiaDzhemilevaL Udzhemilev@anrb.ruPosukhO LBarashkovN AFedorovaS ATeryutinF MAkhmetovaV LKhidiyatovaI MKhusainovaR ILobovS LKhusnutdinovaE KInstitute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of SciencesInstitute of Cytology and Genetics, Siberian Branch, Russian Academy of SciencesYakut Research Center of Complex Medical Problems, Siberian Branch, Russian Academy of Medical Sciences1509201133VOL 3, NO3 (2011)ТОМ 3, №3 (2011)526317012020Copyright ©; 2011, Dzhemileva L.U., Posukh O.L., Barashkov N.A., Fedorova S.A., Teryutin F.M., Akhmetova V.L., Khidiyatova I.M., Khusainova R.I., Lobov S.L., Khusnutdinova E.K.Copyright ©; 2011, Dzhemileva L.U., Posukh O.L., Barashkov N.A., Fedorova S.A., Teryutin F.M., Akhmetova V.L., Khidiyatova I.M., Khusainova R.I., Lobov S.L., Khusnutdinova E.K.2011Dzhemileva L.U., Posukh O.L., Barashkov N.A., Fedorova S.A., Teryutin F.M., Akhmetova V.L., Khidiyatova I.M., Khusainova R.I., Lobov S.L., Khusnutdinova E.K.Dzhemileva L.U., Posukh O.L., Barashkov N.A., Fedorova S.A., Teryutin F.M., Akhmetova V.L., Khidiyatova I.M., Khusainova R.I., Lobov S.L., Khusnutdinova E.K.https://creativecommons.org/licenses/by/4.0https://actanaturae.ru/2075-8251/article/view/10680

The mutations in the GJB2 (Сх26) gene make the biggest contribution to hereditary hearing loss. The spectrum and prevalence of the GJB2 gene mutations are specific to populations of different ethnic origins. For several GJB2 mutations, their origin from appropriate ancestral founder chromosome was shown, approximate estimations of “age” obtained, and presumable regions of their origin outlined. This work presents the results of the carrier frequencies’ analysis of the major (for European countries) mutation c.35delG (GJB2 gene) among 2,308 healthy individuals from 18 Eurasian populations of different ethnic origins: Bashkirs, Tatars, Chuvashs, Udmurts, Komi-Permyaks, Mordvins, and Russians (the Volga-Ural region of Russia); Byelorussians, Ukrainians (Eastern Europe); Abkhazians, Avars, Cherkessians, and Ingushes (Caucasus); Kazakhs, Uzbeks, Uighurs (Central Asia); and Yakuts, and Altaians (Siberia). The prevalence of the c.35delG mutation in the studied ethnic groups may act as additional evidence for a prospective role of the founder effect in the origin and distribution of this mutation in various populations worldwide. The haplotype analysis of chromosomes with the c.35delG mutation in patients with nonsyndromic sensorineural hearing loss (N=112) and in population samples (N =358) permitted the reconstruction of an ancestral haplotype with this mutation, established the common origin of the majority of the studied mutant chromosomes, and provided the estimated time of the c.35delG mutation carriers expansion (11,800 years) on the territory of the Volga-Ural region.

hereditary nonsyndromic sensorineural hearing lossGJB2 (Cx26) genec.35delG mutationancestral haplotypepopulations of the Volga-Ural regionMarazita M.L., Ploughman L.M., Rawlings B., Remington E., Arnos K.S., Nance W.E. // Am. J. Med. Genet. 1993. V. 46. № 5. P 486-491.van Camp G., Smith R. // 2009. http://webhost.ua.ac.be/ hhh/Maeda S., Nakagawa S., Suga M., Yamashita E., Oshima A., Fujiyoshi Y., Tsukihara T. // Nature. 2009. V. 458. №7238. P. 597-602.Kikuchi T., Kimura R.S., Paul D.L., Adams J.C. // Anat. Embryol. (Berl.). 1995. V. 191(2). P 101-118.Morell R.J., Friderici K.H., Wei S., Elfenbein J.L., Friedman T.B., Fisher R.A. // N. Engl. J. Med. 1998. V. 339. P. 1500-1505.van Laer L., Huizing E.H., Verstreken M., van Zuijlen D., Wauters J.G., Bossuyt P. J., van de Heyning P., McGuirt W.T., Smith R.J. // J. Med. Genet. 2001. V. 38. P 515-518.Yan D., Ke X., Blanton S.H., Ouyang X.M., Pandya A., Du L.L., Nance W.E., Liu X.Z. // Hum. Genet. 2003. V. 114. P. 44-50.RamShankar M., Girirajan S., Dagan O., Ravi Shankar H.M., Jalvi R., Rangasayee R., Avraham K.B., Anand A. // J. Med. Genet. 2003. V. 40. P. 68.Abidi O., Boulouiz R., Nahili H., Ridal M., Noureddine A.M., Tlili A., Rouba H., Masmoudi S., Chafik A., Hassar M., et al. // Genet. Test. Mol. Biomark. 2007. V. 12. №4. P. 569-574.Kokotas H., Grigoriadou M., Villamar M., Giannoulia-Karantana A., del Castillo I., Petersen B.M. // Genet. Test. Mol. Biomark. 2010. V. 14. №2. P. 183-187.Najmabadi H., Cucci R., Sahebjam S., Kouchakian N., Farhadi M., Kahrizi K., Arzhangi S., Daneshmandan N., Javan K., Smith R.J.H. // Hum. Mutat. 2002. V. 504. P. 135-138.Kokotas H., van Laer L., Grigoriadou M., Ferekidou E., Papadopoulou E., Neou P., Giannoulia-Karantana A., Kandiloros D., Korres S., Petersen M.B. // Am. J. Med. Genet. 2008. V. 146A. P. 2879-2884.Brobby G., Müller-Myhsok B., Horstmann R. // N. Engl. J. Med. 1998. V. 338 (8). P. 548-550.Hamelmann C., Amedofu G.K., Albrecht K., Muntau B., Gelhaus A., Brobby G.W., Horstmann R.D. // Hum. Mutat. 2001. V. 18. № 1. Р. 84-85.Anichkina A., Kulenich T., Zinchenko S., Shagina I., Polyakov A., Ginter E., Evgrafov O., Viktorova T., Khusnitdonova E. // Eur. J. Hum. Genet. 2001. V. 9. P. 151.Nekrasova N.U., Shagina I.A., Petrin A.N., Polyakov A.V. // Med. genet. 2002. V. 1. № 6. P. 290-294.Zinchenko R.A., Elchinova G.I., Barishnikova N.V., Polyakov A.V., Ginter Е.К. // Russian Journal of Genetics. 2007. V. № 9. P. 1246-1254.Zinchenko R.A., Zinchenko S.P., Galkina V.A. // Russian Journal of Genetics. 2003. V. 39. № 9. P. 1275-1284.Osetrova А.А., Sharonova E.I., Rossinskaya T.G., Zinchenko R.A. // Med. genet. 2010. № 9. P. 30-40.Khidyatova I.M., Dzhemileva L.U., Khabibulin R.M., Khusnutdinova E.K. // Mol. biol. 2002. V. 36. № 3. P. 438-441.Khusnutdinova E.K., Dzhemileva L.U. // Vestn. Bioteh. and Physico-Chemical Biolog. 2005. № 1. P. 24-31.Dzhemileva L.U., Barashkov N.A., Posukh O.L., Khusainova R.I., Akhmetov V.L., Kutuev I.A., Tadinova V.N., Fedorova S.A., Khidyatova I. M., Khusnutdinova E.K. // Med. Genet. 2009. № 8. P. 20-28.Dzhemileva L. U., Posukh O. L., Tazetdinov A. M., Barashkov N. A., Zhuravskii S. A., Ponidelko S. N., Markova T. G., Tadinova V. N., Fedorova S. A., Maksimova N. R., Khusnutdinova E. K. // Russian Journal of Genetics. 2009. № 7. P. 982-991..Dzhemileva L.U., Barashkov N.A., Posukh O.L., Khusainova R.I., Akhmetova V.L., Kutuev I.A., Gilyazova I.R., Tadinova V.N., Fedorova S.A., Khidiyatova I.M., et al. // J. Hum. Genet. 2010. V.55. № 11. P. 749-754.Posukh O.L., Pallares-Ruiz N., Tadinova V., Osipova L., Claustres M., Roux A.F. // BMC Med. Genet. 2005. V. 6. № 12. P. 1-7.Barashkov N.A., Dzhemileva L.U., Fedorova S. A., Maksimova N.R., Khusnutdinova E. K. // Vest. otorin. 2008. № 5. P. 23-28.Barashkov N.A., Dzhemileva L.U., Fedorova S. A., Terutin F.M., Fedorova E.E., Gurinova E.E., Alekseeva S.P., Kononova S.K., Nogovicina A.N., Khusnutdinova E.K. // Med. genet. 2010. V. 9. № 7 (97). P. 22-33.Shokarev R.A., Amelina S.S., Kriventsova N.V. // Med. genet. 2005. V. 4. № 12. P. 556- 567.Shokarev R.A., Amelina S.S., Zinchenko S.N., Elchinova G.I., Khlebnikova О.О., Blisnez Е.А., Tverskaya S.M., Polyakov A.V., Zinchenko R.A. // Med. genet. 2006. V. 5. P. 38-43.Boghkova V.P., Hashaev Z.H., Umankaya Т.А. // Biophis. 2010. V. 55. № 3. P.514-525.Tavartkiladze G.A., Polyakov A.V., Markova T.G., Lalayanz M.R., Blisnez Е.А. // Vestn. otorin. 2010. № 3. P.1-18.Tazetdinov А.М., Dzhemileva L.U., Khusnutdinova E.K. // Russian Journal of Genetics. 2008. V. 44. № 6. P. 725-733.Denoyelle F., Weil D., Maw M. // Hum. Mol. Genet. 1997. V. № 6. P. 2173-2177.Petrukhin K.E., Speer M.C., Cayanis E., Bonaldo M.F., Tantravahi U., Soares M.B., Fischer S.G., Warburton D., Gilliam T.C., Ott J. // Genomics. 1993. V. 15. № 1. P. 76-85.Brown K.A., Janura A., Karbani G., Parrys G., Noble A., Crockford G., Bishop D.T., Newton V.E., Markham A.F., Mueller R.F. // Hum. Mol. Genet. 1996. V. 5. P. 169-173.Rothrock C.R., Murgia A., Sartorato E.L., Leonardi E., Wei S., Lebeis S.L., Yu L.E., Elfenbein J.L., Fisher R.A., Friderici K.H. // Hum. Genet. 2003. V. 113. P. 18-23.Bengtsson B.O., Thompson G. // Tissue Antigens. 1981. V. 18. P. 356-363.Risch N., de Leon D., Ozelius L. // Nat. Genet. 1995. V. 9. № 2. P. 152-159.Krawczak M., Konecki D.S., Schmidtke I. // Hum. Genet. 1988. V. 80. P. 78-80.Nei M. Molecular Evolutionary Genetics. New York: Columbia University Press, 1987. 275 p.Petersen M., Willems P. // Clin. Genet. 2006. V. 69. Р. 371-392.Gasparini P., Rabionet R., Barbujani G., Melchionda S., Petersen M., Brondum-Nielsen K., Metspalu A., Oitmaa E., Pisano M., Fortina P., et al. // Eur. J. Hum. Genet. 2000. V. 8. №1. P. 19-23.Lucotte G. // Int. J. Pediatr. Otorhinolaryngol. 2007. V. 71. P. 741—746.Mahdieh N., Rabbani B. // Int. J. Audiol. 2009. V. 48. P. 363-370.Shahin H., Walsh T., Sobe T., Lynch E., King M.-C., Avraham K.B., Kanaan M. // Hum. Genet. 2002. V. 110. P. 284-289.Belguith H., Hajji S., Salem N., Charfeddine I., Lahmar I., Amor M.B., Ouldim K., Chouery E., Driss N., Drira M., et al. // Clin. Genet. 2005. V. 68. P. 188-189.Slatkin M., Rannala B. // Annu. Rev. Genomics Hum. Genet. 2000. V. 1. P. 225-249.