<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE article PUBLIC "-//NLM//DTD JATS (Z39.96) Journal Publishing DTD v1.3 20210610//EN" "JATS-journalpublishing1-3.dtd">
<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">ymj</journal-id><journal-title-group><journal-title xml:lang="ru">Якутский медицинский журнал</journal-title><trans-title-group xml:lang="en"><trans-title>Yakut Medical Journal</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1813-1905</issn><issn pub-type="epub">2312-1017</issn><publisher><publisher-name>ЯНЦ КМП</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.25789/YMJ.2020.72.12</article-id><article-id custom-type="elpub" pub-id-type="custom">ymj-723</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>МЕТОДЫ ДИАГНОСТИКИ И ЛЕЧЕНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>METHODS OF DIAGNOSIS AND TREATMENT</subject></subj-group></article-categories><title-group><article-title>Клинико-аудиологический и генеалогический анализ случаев нарушения слуха в Республике Бурятия</article-title><trans-title-group xml:lang="en"><trans-title>Clinical, audiological and genealogical analysis of hearing disorders in the Republic of Buryatia</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-6866-9462</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Пшенникова</surname><given-names>В. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Pshennikova</surname><given-names>V. G.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Пшенникова Вера Геннадиевна - к.б.н., в.н.с.-руковод. лаб.</p></bio><bio xml:lang="en"><p>Pshennikova Vera Gennadievna - Ph.D., Head of laboratory</p><p>Yakutsk, 677010</p></bio><email xlink:type="simple">psennikovavera@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-8659-0886</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Терютин</surname><given-names>Ф. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Teryutin</surname><given-names>F. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Терютин Федор Михайлович - к.м.н., н.с.</p></bio><bio xml:lang="en"><p>Teryutin Fedor Mikhailovich - Ph.D., Researcher</p><p>Yakutsk, 677010</p></bio><email xlink:type="simple">rest26@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-6984-7934</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Барашков</surname><given-names>Н. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Barashkov</surname><given-names>N. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Барашков Николай Алексеевич - к.б.н., в.н.с.-руковод. лаб.</p></bio><bio xml:lang="en"><p>Barashkov Nikolay Alekseevich - Ph.D., Head of laboratory</p><p>Yakutsk</p></bio><email xlink:type="simple">barashkov2004@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-2143-0021</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Кононова</surname><given-names>С. К.</given-names></name><name name-style="western" xml:lang="en"><surname>Kononova</surname><given-names>S. K.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Кононова Сардана Кононовна - к.б.н., с.н.с.</p></bio><bio xml:lang="en"><p>Kononova Sardana Kononovna - Ph.D., Researcher</p><p>Yakutsk</p></bio><email xlink:type="simple">konsard@rambler.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-0914-3609</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Соловьев</surname><given-names>А. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Solovyev</surname><given-names>A. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Соловьев Айсен Васильевич - к.б.н., н.с.</p></bio><bio xml:lang="en"><p>Solovyev Aisen Vasilievich - Ph.D., Researcher</p><p>Yakutsk, 677010</p></bio><email xlink:type="simple">nelloann@mail.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-2936-5818</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Романов</surname><given-names>Г. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Romanov</surname><given-names>G. P.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Романов Георгий Прокопьевич – н.с.</p></bio><bio xml:lang="en"><p>Romanov Georgii Prokopievich – Researcher</p><p>Yakutsk</p></bio><email xlink:type="simple">gpromanov@gmail.com</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-6952-3868</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Федорова</surname><given-names>С. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Fedorova</surname><given-names>S. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Федорова Сардана Аркадьевна - д.б.н., зав. науч.-исслед. лаб.</p></bio><bio xml:lang="en"><p>Fedorova Sardana Arkadievna - Ph.D., Head of Laboratory</p></bio><email xlink:type="simple">sardaanafedorova@mail.ru</email><xref ref-type="aff" rid="aff-3"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Якутский научный центр комплексных медицинских проблем</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Yakut Scientific Center of Сomplex Мedical Рroblems</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Северо-Восточный федеральный унт-т им. М.К. Аммосова</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Ammosov of the Institute of Natural Sciences, North-Eastern Federal University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>Северо-Восточный федеральный унт-т им. М.К. Аммосова</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Institute of Natural Sciences, North-Eastern Federal University</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2020</year></pub-date><pub-date pub-type="epub"><day>02</day><month>06</month><year>2025</year></pub-date><volume>0</volume><issue>4</issue><fpage>44</fpage><lpage>49</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Пшенникова В.Г., Терютин Ф.М., Барашков Н.А., Кононова С.К., Соловьев А.В., Романов Г.П., Федорова С.А., 2025</copyright-statement><copyright-year>2025</copyright-year><copyright-holder xml:lang="ru">Пшенникова В.Г., Терютин Ф.М., Барашков Н.А., Кононова С.К., Соловьев А.В., Романов Г.П., Федорова С.А.</copyright-holder><copyright-holder xml:lang="en">Pshennikova V.G., Teryutin F.M., Barashkov N.A., Kononova S.K., Solovyev A.V., Romanov G.P., Fedorova S.A.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://ymj.elpub.ru/jour/article/view/723">https://ymj.elpub.ru/jour/article/view/723</self-uri><abstract><p>В статье впервые представлены результаты клинико-аудиологического и генеалогического анализа случаев нарушений слуха в Республике Бурятия. В результате клинико-аудиологического анализа выборки исследуемых у большинства была установлена двусторонняя глухота по сенсоневральному типу, у остальных - двусторонняя тугоухость различной степени тяжести. Сегрегационный анализ, проведенный в бурятских и русских семьях, позволил предположить наследственный характер случаев нарушения слуха, сегрегирующих по аутосомно-рецессивному типу наследования только в русских семьях.</p></abstract><trans-abstract xml:lang="en"><p>In this paper we present for the first time the results of the clinical-audiological and genealogical analysis of cases of hearing impairment in the Republic of Buryatia. As a result of the clinical-audiological analysis of the survey sample, the majority of individuals had bilateral deafness of the sensorineural type, the rest had bilateral hearing loss of varying severity. The segregation analysis carried out in Buryat and Russian families made it possible to assume the hereditary nature of cases of hearing impairment, segregating according to an autosomal recessive type of inheritance only in Russian families.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>клинико-аудиологический анализ</kwd><kwd>клинико-генеалогический анализ</kwd><kwd>наследственная отягощенность</kwd><kwd>нарушение слуха</kwd><kwd>Республика Бурятия</kwd></kwd-group><kwd-group xml:lang="en"><kwd>clinical-audiological analysis</kwd><kwd>clinical-genealogical analysis</kwd><kwd>hereditary burden</kwd><kwd>hearing impairment</kwd><kwd>Republic of Buryatia</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Работа выполнена в рамках НИР ЯНЦ КМП «Изучение генетической структуры и груза наследственной патологии популяций Республики Саха (Якутия)», базовой части госзадания Министерства науки и образования РФ (FSRG-2020-0016) и при поддержке грантов РФФИ (18-05- 600035_Арктика, 18-015-00212_A, 20- 015-00328_A).</funding-statement><funding-statement xml:lang="en">This study was supported by the Project of the Yakut Scientific Center of Complex Medical Problems “Studying the genetic structure and load of hereditary pathology of populations of the Sakha Republic”, the basic part of the state assignment of the Ministry of Science and Education of the Russian Federation (FSRG-2020-0016) and with the support of RFBR grants (18- 05-600035_ Arctic, 18-015-00212_A, 20- 015-00328_A).</funding-statement></funding-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Гинтер Е.К. Медицинская генетика / Е.К. Гинтер; учебник. - М.: «Медицина», 2003. - С. 448.</mixed-citation><mixed-citation xml:lang="en">Ginter E.K. Medical genetics / E.K. Ginter; Textbook. - М.: “Medicine”, 2003. - P. 448. (In Russ.).</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Изучение наследственных форм тугоухости/глухоты в Республике Тыва. Сообщение II. Оценка спектра мутаций в гене GJB2 (Сx26) и их вклада в этиологию потери слуха / М.С. Бады-Хоо, А.А. Бондарь, И.В. Морозов [и др.] // Медицинская генетика. - 2014. - Т.13, №11. - С. 23-33. https://doi.org/10.1234/XXXXXXXX-2014-11-30-40.</mixed-citation><mixed-citation xml:lang="en">Study of hereditary forms of hearing loss in the Republic of Tyuva. II. Evaluation of the mutational spectrum of the GJB2 (Cx26) gene and its contribution to the etiology of hearing loss / M.S. Bady-Khoo, A.A. Bondar, I.V. Morozov [et al.] // Medical Genetics. - 2014. - Vol. 13(11). - P. 30-40. (In Russ.) https://doi.org/10.1234/XXXXXXXX-2014-11-30-40.</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment / L.V. Laer, P. Coucke, R.F. Mueller [et al.] // J Med Genet. - 2001. - Vol. 38(8). - P. 515-518. doi: 10.1136/jmg.38.8.515.</mixed-citation><mixed-citation xml:lang="en">A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment / L.V. Laer, P. Coucke, R.F. Mueller [et al.] // J Med Genet. - 2001. - Vol. 38(8). - P. 515-518. doi: 10.1136/jmg.38.8.515.</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Antonarakis S.E. Mendelian disorders deserve more attention / S.E. Antonarakis, J.S. Beckmann // Nature Reviews Genetics. - 2006. - Vol. 7(4). - P. 277–282. doi:10.1038/nrg1826.</mixed-citation><mixed-citation xml:lang="en">Antonarakis S.E. Mendelian disorders deserve more attention / S.E. Antonarakis, J.S. Beckmann // Nature Reviews Genetics. - 2006. - Vol. 7(4). - P. 277–282. doi:10.1038/nrg1826.</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G&gt;A in GJB2 gene as a result of founder effect / N.A Barashkov, L.U. Dzhemileva, S.A. Fedorova [et al.] // J. Hum. Genet. - 2011. - Vol. 1(9). - Р. 631-639.</mixed-citation><mixed-citation xml:lang="en">Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G&gt;A in GJB2 gene as a result of founder effect / N.A Barashkov, L.U. Dzhemileva, S.A. Fedorova [et al.] // J. Hum. Genet. - 2011. - Vol. 1(9). - Р. 631-639.</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3 / S.Y. Khan, S. Riazuddin, M. Tariq [et al.] // Hum Genet. – 2007. – Vol. 120(6) – P. 789-793. doi: 10.1007/s00439-006-0275-1.</mixed-citation><mixed-citation xml:lang="en">Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3 / S.Y. Khan, S. Riazuddin, M. Tariq [et al.] // Hum Genet. – 2007. – Vol. 120(6) – P. 789-793. doi: 10.1007/s00439-006-0275-1.</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">Chan D.K. GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype / D.K. Chan, K.W. Chang // Laryngoscope. - 2014. - Vol. 124(2). - E34-53. doi: 10.1002/lary.24332.</mixed-citation><mixed-citation xml:lang="en">Chan D.K. GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype / D.K. Chan, K.W. Chang // Laryngoscope. - 2014. - Vol. 124(2). - E34-53. doi: 10.1002/lary.24332.</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village / S. Winata, I. N. Arhya, S. Moeljopawiro [et al.] // J Med Genet. – 1995. - Vol. 32(5). - P. 336-43. doi: 10.1136/jmg.32.5.336.</mixed-citation><mixed-citation xml:lang="en">Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village / S. Winata, I. N. Arhya, S. Moeljopawiro [et al.] // J Med Genet. – 1995. - Vol. 32(5). - P. 336-43. doi: 10.1136/jmg.32.5.336.</mixed-citation></citation-alternatives></ref><ref id="cit9"><label>9</label><citation-alternatives><mixed-citation xml:lang="ru">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(9). - P. 1605-1609.</mixed-citation><mixed-citation xml:lang="en">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(9). - P. 1605-1609.</mixed-citation></citation-alternatives></ref><ref id="cit10"><label>10</label><citation-alternatives><mixed-citation xml:lang="ru">Connexin 26 mutations in hereditary non-syndromic sensorineural deafness / D.P. Kelsell, J. Dunlop, H.P. Stevens [et al.] // Nature. - 1997. - Vol. 387(6628). - P. 80-83.</mixed-citation><mixed-citation xml:lang="en">Connexin 26 mutations in hereditary non-syndromic sensorineural deafness / D.P. Kelsell, J. Dunlop, H.P. Stevens [et al.] // Nature. - 1997. - Vol. 387(6628). - P. 80-83.</mixed-citation></citation-alternatives></ref><ref id="cit11"><label>11</label><citation-alternatives><mixed-citation xml:lang="ru">Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness / S.B. Arab, S. Masmoudi, N. Beltaief [et al.] // Genet Epidemiol. - 2004. - Vol. 27(1). - P. 74-79. doi: 10.1002/gepi.10321.</mixed-citation><mixed-citation xml:lang="en">Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness / S.B. Arab, S. Masmoudi, N. Beltaief [et al.] // Genet Epidemiol. - 2004. - Vol. 27(1). - P. 74-79.  doi: 10.1002/gepi.10321.</mixed-citation></citation-alternatives></ref><ref id="cit12"><label>12</label><citation-alternatives><mixed-citation xml:lang="ru">Del Castillo F.J. DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes / F.J. Del Castillo, I. Del Castillo // Front Mol Neurosci. - 2017. - Vol. 22;10. - P. 428. doi: 10.3389/fnmol.2017.00428.</mixed-citation><mixed-citation xml:lang="en">Del Castillo F.J. DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes / F.J. Del Castillo, I. Del Castillo // Front Mol Neurosci. - 2017. - Vol. 22;10. - P. 428. doi: 10.3389/fnmol.2017.00428.</mixed-citation></citation-alternatives></ref><ref id="cit13"><label>13</label><citation-alternatives><mixed-citation xml:lang="ru">DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1 / S. Delmaghani, A. Aghaie, S. Compain-Nouaille [et al.] // Eur J Hum Genet. – 2003. - Vol. 11(10). - P. 816-8. doi: 10.1038/sj.ejhg.5201045.</mixed-citation><mixed-citation xml:lang="en">DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1 / S. Delmaghani, A. Aghaie, S. Compain-Nouaille [et al.] // Eur J Hum Genet. – 2003. - Vol. 11(10). - P. 816-8. doi: 10.1038/sj.ejhg.5201045.</mixed-citation></citation-alternatives></ref><ref id="cit14"><label>14</label><citation-alternatives><mixed-citation xml:lang="ru">Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese / K. Tsukamoto, H. Suzuki, D. Harada [et al.] // Eur J Hum Genet. - 2003. - Vol. 11(12). – P. 916-922. doi: 10.1038/sj.ejhg.5201073.</mixed-citation><mixed-citation xml:lang="en">Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese / K. Tsukamoto, H. Suzuki, D. Harada [et al.] // Eur J Hum Genet. - 2003. - Vol. 11(12). – P. 916-922. doi: 10.1038/sj.ejhg.5201073.</mixed-citation></citation-alternatives></ref><ref id="cit15"><label>15</label><citation-alternatives><mixed-citation xml:lang="ru">Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review / K. Tsukada, S.Y. Nishio, M. Hattori [et al.] // Ann Otol Rhinol Laryngol. - 2015. - Vol. 124. (Suppl). - P. 61-76. doi: 10.1177/0003489415575060.</mixed-citation><mixed-citation xml:lang="en">Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review / K. Tsukada, S.Y. Nishio, M. Hattori [et al.] // Ann Otol Rhinol Laryngol. - 2015. - Vol. 124. (Suppl). - P. 61-76. doi: 10.1177/0003489415575060.</mixed-citation></citation-alternatives></ref><ref id="cit16"><label>16</label><citation-alternatives><mixed-citation xml:lang="ru">First molecular screening of deafness in the Altai Republic population / O. Posukh, N. Pallares-Ruiz, V. Tadinova [et al.] // BMC Med. Genet. - 2005. - Vol. 6(1). - P. 12.</mixed-citation><mixed-citation xml:lang="en">First molecular screening of deafness in the Altai Republic population / O. Posukh, N. Pallares-Ruiz, V. Tadinova [et al.] // BMC Med. Genet. - 2005. - Vol. 6(1). - P. 12.</mixed-citation></citation-alternatives></ref><ref id="cit17"><label>17</label><citation-alternatives><mixed-citation xml:lang="ru">Fisher R.A. Еhe effect of methods of ascertainment upon the estimation of frequencies / R.A. Fisher // Ann. Eugen. - 1934. - Vol. 6. - P. 13. https://doi.org/10.1111/j.1469-1809.1934.tb02105.x.</mixed-citation><mixed-citation xml:lang="en">Fisher R.A. Еhe effect of methods of ascertainment upon the estimation of frequencies / R.A. Fisher // Ann. Eugen. - 1934. - Vol. 6. - P. 13. https://doi.org/10.1111/j.1469-1809.1934.tb02105.x.</mixed-citation></citation-alternatives></ref><ref id="cit18"><label>18</label><citation-alternatives><mixed-citation xml:lang="ru">GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation / A. Ohtsuka, I. Yuge, S. Kimura [et al.] // Hum Genet. - 2003. - Vol. 112(4). - P. 329-33. doi: 10.1007/s00439-002-0889-x.</mixed-citation><mixed-citation xml:lang="en">GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation / A. Ohtsuka, I. Yuge, S. Kimura [et al.] // Hum Genet. - 2003. - Vol. 112(4). - P. 329-33. doi: 10.1007/s00439-002-0889-x.</mixed-citation></citation-alternatives></ref><ref id="cit19"><label>19</label><citation-alternatives><mixed-citation xml:lang="ru">Haplotype Diversity and Reconstruction of Ancestral Haplotype Associated with the c.35delG Mutation in the GJB2 (Cx26) Gene among the Volgo-Ural Populations of Russia / L.U. Dzhemileva, O.L. Posukh, N.A. Barashkov [et al.] // Acta Naturae. - 2011. - Vol. 3(3). - P. 52-63.</mixed-citation><mixed-citation xml:lang="en">Haplotype Diversity and Reconstruction of Ancestral Haplotype Associated with the c.35delG Mutation in the GJB2 (Cx26) Gene among the Volgo-Ural Populations of Russia / L.U. Dzhemileva, O.L. Posukh, N.A. Barashkov [et al.] // Acta Naturae. - 2011. - Vol. 3(3). - P. 52-63.</mixed-citation></citation-alternatives></ref><ref id="cit20"><label>20</label><citation-alternatives><mixed-citation xml:lang="ru">High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG / P. Gasparini, R. Rabionet, G. Barbujani [et al.] // Eur J Hum Genet. – 2000. – Vol. 8(1). - P. 19-23. doi: 10.1038/sj.ejhg.5200406.</mixed-citation><mixed-citation xml:lang="en">High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG / P. Gasparini, R. Rabionet, G. Barbujani [et al.] // Eur J Hum Genet. – 2000. – Vol. 8(1). - P. 19-23. doi: 10.1038/sj.ejhg.5200406.</mixed-citation></citation-alternatives></ref><ref id="cit21"><label>21</label><citation-alternatives><mixed-citation xml:lang="ru">High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing impaired and control Thai individuals / D. Wattanasirichaigoon, C. Limwongse, C. Jariengprasert [et al.] // Clin. Genet. - 2004. - Vol. 66(5). - P. 452-460.</mixed-citation><mixed-citation xml:lang="en">High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing impaired and control Thai individuals / D. Wattanasirichaigoon, C. Limwongse, C. Jariengprasert [et al.] // Clin. Genet. - 2004. - Vol. 66(5). - P. 452-460.</mixed-citation></citation-alternatives></ref><ref id="cit22"><label>22</label><citation-alternatives><mixed-citation xml:lang="ru">Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32 / A. Tariq, R.L.P. Santos, M.N. Khan [et al.] // J Mol Med (Berl). – 2006. – Vol. 84(6). – P. 484-90. doi: 10.1007/s00109-005-0023-3.</mixed-citation><mixed-citation xml:lang="en">Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32 / A. Tariq, R.L.P. Santos, M.N. Khan [et al.] // J Mol Med (Berl). – 2006. – Vol. 84(6). – P. 484-90. doi: 10.1007/s00109-005-0023-3.</mixed-citation></citation-alternatives></ref><ref id="cit23"><label>23</label><citation-alternatives><mixed-citation xml:lang="ru">Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients / K.Y. Lee, S.Y. Choi, J.W. Bae [et al.] // Int J Pediatr Otorhinolaryngol. - 2008. - Vol. 72(9). - Р. 1301-1309. doi: 10.1016/j.ijporl.2008.05.007.</mixed-citation><mixed-citation xml:lang="en">Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients / K.Y. Lee, S.Y. Choi, J.W. Bae [et al.] // Int J Pediatr Otorhinolaryngol. - 2008. - Vol. 72(9). - Р. 1301-1309. doi: 10.1016/j.ijporl.2008.05.007.</mixed-citation></citation-alternatives></ref><ref id="cit24"><label>24</label><citation-alternatives><mixed-citation xml:lang="ru">Morton C.C. Newborn hearing screening - A silent revolution / C.C. Morton, W.E. Nance // N. Engl. J. Med. - 2006. - Vol. 354. - P. 2151-2164.</mixed-citation><mixed-citation xml:lang="en">Morton C.C. Newborn hearing screening - A silent revolution / C.C. Morton, W.E. Nance // N. Engl. J. Med. - 2006. - Vol. 354. - P. 2151-2164.</mixed-citation></citation-alternatives></ref><ref id="cit25"><label>25</label><citation-alternatives><mixed-citation xml:lang="ru">Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss / C.J. Klein, M-V. Botuyan, Y. Wu [et al.] // Nat Genet. – 2011. – Vol. 43. – P. 595–600.</mixed-citation><mixed-citation xml:lang="en">Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss / C.J. Klein, M-V. Botuyan, Y. Wu [et al.] // Nat Genet. – 2011. – Vol. 43. – P. 595–600.</mixed-citation></citation-alternatives></ref><ref id="cit26"><label>26</label><citation-alternatives><mixed-citation xml:lang="ru">Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness / R.J. Morell, H.J. Kim, L.J. Hood // N Engl J Med. – 1998. - Vol. 339(21). – P. 1500-1505. doi: 10.1056/NEJM199811193392103.</mixed-citation><mixed-citation xml:lang="en">Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness / R.J. Morell, H.J. Kim, L.J. Hood // N Engl J Med. – 1998. - Vol. 339(21). – P. 1500-1505. doi: 10.1056/NEJM199811193392103.</mixed-citation></citation-alternatives></ref><ref id="cit27"><label>27</label><citation-alternatives><mixed-citation xml:lang="ru">Mutations of MYO6 are associated with recessive deafness, DFNB37 / Z.M. Ahmed, R.J. Morell, S. Riazuddin [et al.] // Am J Hum Genet. – 2003. – Vol. 72(5). – P. 1315-22. doi: 10.1086/375122.</mixed-citation><mixed-citation xml:lang="en">Mutations of MYO6 are associated with recessive deafness, DFNB37 / Z.M. Ahmed, R.J. Morell, S. Riazuddin [et al.] // Am J Hum Genet. – 2003. – Vol. 72(5). – P. 1315-22. doi: 10.1086/375122.</mixed-citation></citation-alternatives></ref><ref id="cit28"><label>28</label><citation-alternatives><mixed-citation xml:lang="ru">Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel / D.A. Scott, R. Carmi, K. Elbedour [et al.] // Am. J. Hum. Genet. – 1995. – Vol. 57(4). - P. 965-8.</mixed-citation><mixed-citation xml:lang="en">Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel / D.A. Scott, R. Carmi, K. Elbedour [et al.] // Am. J. Hum. Genet. – 1995. – Vol. 57(4). - P. 965-8.</mixed-citation></citation-alternatives></ref><ref id="cit29"><label>29</label><citation-alternatives><mixed-citation xml:lang="ru">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.</mixed-citation><mixed-citation xml:lang="en">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.</mixed-citation></citation-alternatives></ref><ref id="cit30"><label>30</label><citation-alternatives><mixed-citation xml:lang="ru">Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana / C. Hamelmann, G.K. Amedofu, K. Albrecht [et al.] // Hum. Mutat. - 2001. - Vol. 18(1). - P. 84-85.</mixed-citation><mixed-citation xml:lang="en">Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana / C. Hamelmann, G.K. Amedofu, K. Albrecht [et al.] // Hum. Mutat. - 2001. - Vol. 18(1). - P. 84-85.</mixed-citation></citation-alternatives></ref><ref id="cit31"><label>31</label><citation-alternatives><mixed-citation xml:lang="ru">Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity / S.Y. Kim, G. Park, K-H. Han [et al.] // PLoS One. – 2013. – Vol. 25;8(4):e61592. doi: 10.1371/journal.pone.0061592.</mixed-citation><mixed-citation xml:lang="en">Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity / S.Y. Kim, G. Park, K-H. Han [et al.] // PLoS One. – 2013. – Vol. 25;8(4):e61592. doi: 10.1371/journal.pone.0061592.</mixed-citation></citation-alternatives></ref><ref id="cit32"><label>32</label><citation-alternatives><mixed-citation xml:lang="ru">Smith C.A. A note on the effects of method of ascertainment on segregation ratios / C.A. Smith // Ann Hum Genet. - 1959. - Vol. 23. - P. 311-323.</mixed-citation><mixed-citation xml:lang="en">Smith C.A. A note on the effects of method of ascertainment on segregation ratios / C.A. Smith // Ann Hum Genet. - 1959. - Vol. 23. - P. 311-323.</mixed-citation></citation-alternatives></ref><ref id="cit33"><label>33</label><citation-alternatives><mixed-citation xml:lang="ru">Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic) / N.A. Barashkov, V.G. Pshennikova, O.L. Posukh [et al.] // PLoS One. - 2016. - Vol. 11(5):e0156300. doi: 10.1371/journal.pone.0156300.</mixed-citation><mixed-citation xml:lang="en">Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic) / N.A. Barashkov, V.G. Pshennikova, O.L. Posukh [et al.] // PLoS One. - 2016. - Vol. 11(5):e0156300. doi: 10.1371/journal.pone.0156300.</mixed-citation></citation-alternatives></ref><ref id="cit34"><label>34</label><citation-alternatives><mixed-citation xml:lang="ru">Study of hereditary forms of hearing loss in the Republic of Tuva. II. Evaluation of the mutational spectrum of the GJB2 (Cx26) gene and its contribution to the etiology of hearing loss / M.S. Bady-Khoo, A.A. Bondar, I.V. Morozov [et al.] // Medical Genetics. - 2014. Vol. 13(11). - P. 30-40. (In Russ.) doi.org/10.1234/XXXXXXXX-2014-11-30-40.</mixed-citation><mixed-citation xml:lang="en">Study of hereditary forms of hearing loss in the Republic of Tuva. II. Evaluation of the mutational spectrum of the GJB2 (Cx26) gene and its contribution to the etiology of hearing loss / M.S. Bady-Khoo, A.A. Bondar, I.V. Morozov [et al.] // Medical Genetics. - 2014. Vol. 13(11). - P. 30-40. (In Russ.) doi.org/10.1234/XXXXXXXX-2014-11-30-40.</mixed-citation></citation-alternatives></ref><ref id="cit35"><label>35</label><citation-alternatives><mixed-citation xml:lang="ru">Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families / Z. Brownstein, L.M. Friedman, H. Shahin // Genome Biol. - 2011. - Vol. 14;12(9). – P. 89. doi: 10.1186/gb-2011-12-9-r89.</mixed-citation><mixed-citation xml:lang="en">Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families / Z. Brownstein, L.M. Friedman, H. Shahin // Genome Biol. - 2011. - Vol. 14;12(9). – P. 89. doi: 10.1186/gb-2011-12-9-r89.</mixed-citation></citation-alternatives></ref><ref id="cit36"><label>36</label><citation-alternatives><mixed-citation xml:lang="ru">The prevalence of connexin 26 (GJB2) mutations in the Chinese population / X.Z. Liu, X.J. Xia, X.M. Ke [et al.] / Hum Genet. - 2002. - Vol. 111(4-5). - P. 394-397. doi: 10.1007/s00439-002-0811-6.</mixed-citation><mixed-citation xml:lang="en">The prevalence of connexin 26 (GJB2) mutations in the Chinese population / X.Z. Liu, X.J. Xia, X.M. Ke [et al.] / Hum Genet. - 2002. - Vol. 111(4-5). - P. 394-397. doi: 10.1007/s00439-002-0811-6.</mixed-citation></citation-alternatives></ref><ref id="cit37"><label>37</label><citation-alternatives><mixed-citation xml:lang="ru">Unique Mutational Spectrum of the GJB2 Gene and its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G&gt;C (p.Trp172Cys) / O.L. Posukh, M.V. Zytsar, M.S. Bady-Khoo [et al.] // Genes. - 2019. - Vol. 10(6). - P. 429. doi.org/10.3390/genes10060429.</mixed-citation><mixed-citation xml:lang="en">Unique Mutational Spectrum of the GJB2 Gene and its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G&gt;C (p.Trp172Cys) / O.L. Posukh, M.V. Zytsar, M.S. Bady-Khoo [et al.] // Genes. - 2019. - Vol. 10(6). - P. 429. doi.org/10.3390/genes10060429.</mixed-citation></citation-alternatives></ref><ref id="cit38"><label>38</label><citation-alternatives><mixed-citation xml:lang="ru">Vogel F. Human Genetics: Problems and Approaches / F. Vogel, A.G. Motulsky // Springer; 1st ed. - 1979. - Corr. 2nd printing edition (June 17, 1982) - P. 700.</mixed-citation><mixed-citation xml:lang="en">Vogel F. Human Genetics: Problems and Approaches / F. Vogel, A.G. Motulsky // Springer; 1st ed. - 1979. - Corr. 2nd printing edition (June 17, 1982) - P. 700.</mixed-citation></citation-alternatives></ref><ref id="cit39"><label>39</label><citation-alternatives><mixed-citation xml:lang="ru">Моrton N.E. Genetic tests under incomplete ascertainment / N.E. Моrton // Am. J. Hum. Genet. - 1959. - Vol. 11(1). - Р. 1-16.</mixed-citation><mixed-citation xml:lang="en">Моrton N.E. Genetic tests under incomplete ascertainment / N.E. Моrton // Am. J. Hum. Genet. - 1959. - Vol. 11(1). - Р. 1-16.</mixed-citation></citation-alternatives></ref></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
