Роль ассортативных браков по глухоте в распространенности наследственной потери слуха
https://doi.org/10.25789/YMJ.2022.80.25
Аннотация
В статье представлен обзор, посвященный роли ассортативных браков по глухоте в распространении наследственной потери слуха. В 1883 г. Александр Грэйам Белл, знаменитый изобретатель телефона, впервые высказал предположение, что частые браки между глухими людьми могут привести к росту встречаемости глухоты, однако эта гипотеза не получила признания у его современников. В 2000-х гг. с развитием молекулярно-генетических исследований, позволивших идентифицировать одну из наиболее распространенных форм потери слуха, обусловленной мутациями гена GJB2, кодирующего белок межщелевых контактов – коннексин 26, эта гипотеза вновь была переосмыслена Уолтером Нэнсом. В серии работ ему и его соавторам удалось привести свидетельства в пользу того, что репродуктивные возможности глухих увеличились, и браки между глухими происходят не случайно, а по принципу ассортативности, что в сумме могло привести к увеличению распространенности
Об авторах
Г. П. Романов
Якутский научный центр комплексных медицинских проблем
Россия
Россия
Романов Георгий Прокопьевич – м.н.с.
Н. А. Барашков
Якутский научный центр комплексных медицинских проблем
Россия
Россия
Барашков Николай Алексеевич – к.б.н., в.н.с. , руковод. лаб.
Список литературы
1. A Comparative Analysis of the Genetic Epidemiology of Deafness in the United States in Two Sets of Pedigrees Collected More than a Century Apart / K. S. Arnos, K. O. Welch, M. Tekin [et al.] // The American Journal of Human Genetics. – 2008. – V. 83. – No. 2. – P. 200-207. https://doi.org/10.1016/j.ajhg.2008.07.001
2. Bell, A. G. Memoir Upon the Formation of a Deaf Variety of the Human Race / A. G. Bell, National Academy of Sciences, 1884.
3. Bell, A. M. Visible speech: the science of universal alphabetics; or Self-interpreting physiological letters, for the writing of all languages in one alphabet / A. M. Bell, London: Simpkin, Marshall & Co., 1867. 126 c.
4. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. / G. E. Green, D. A. Scott, J. M. McDonald [et al.] // JAMA. – 1999. – V. 281. – No. 23. – P. 2211-6.
5. Castle, W. E. The genetics of multi-nippled sheep / W. E. Castle // Journal of Heredity. – 1924. – V. 15. – No. 2. – P. 75-85. https://doi.org/10.1093/oxfordjournals.jhered.a102421
6. Connexin26 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.] // Human molecular genetics. – 1997. – V. 6. – No. 9. – P. 1605-9. https://doi.org/10.1093/hmg/6.9.1605
7. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness / D. P. Kelsell, J. Dunlop, H. P. Stevens [et al.] // Nature. – 1997. – V. 387. – No. 6628. – P. 80-83. https://doi.org/10.1038/387080a0
8. Connexin-26 mutations in sporadic and inherited sensorineural deafness. / X. Estivill, P. Fortina, S. Surrey [et al.] // Lancet (London, England). – 1998. – V. 351. – No. 9100. – P. 394-8. https://doi.org/10.1016/S0140-6736(97)11124-2
9. Connexin-26 mutations in sporadic non-syndromal sensorineural deafness. / N. Lench, M. Houseman, V. Newton [et al.] // Lancet (London, England). – 1998. – V. 351. – No. 9100. – P. 415. https://doi.org/10.1016/s0140-6736(98)24006-2
10. Crow, J. F. The effect of assortative mating on the genetic composition of a population. / J. F. Crow, J. Felsenstein // Eugenics quarterly. – 1968. – V. 15. – No. 2. – P. 85-97. https://doi.org/10.1080/19485565.1968.9987760
11. Chung, C. S. A note on deaf mutism. / C. S. Chung, O. W. Robinson, N. E. Morton // Annals of human genetics. – 1959. – V. 23. – P. 357-66. https://doi.org/10.1111/j.1469-1809.1959.tb01479.x
12. Deaf intermarriage has limited effect on the prevalence of recessive deafness and no effect on underlying allelic frequency / D. C. Braun, S. Jain, E. Epstein [et al.] // PLoS ONE. 2020. No. 11 November (15). P. 1–13. https://doi.org/10.1371/journal.pone.0241609
13. Fay, E. A. Marriages of the deaf in America: An inquiry concerning the results of marriages of the deaf in America / E. A. Fay. – Gibson Bros., printers and bookbinders, 1898.
14. Fisher, R. A. XV.—The Correlation between Relatives on the Supposition of Mendelian Inheritance. / R. A. Fisher // Transactions of the Royal Society of Edinburgh. – 1919. – V. 52. – No. 2. – P. 399-433. https://doi.org/10.1017/S0080456800012163
15. Fitness Among Individuals with Early Childhood Deafness: Studies in Alumni Families from Gallaudet University / S. H. Blanton, W. E. Nance, V. W. Norris [et al.] // Annals of Human Genetics. – 2010. – V. 74. – No. 1. – P. 27-33. https://doi.org/10.1111/j.1469-1809.2009.00553.x
16. Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis / T. Kikuchi, R. Kimura, D. Paul, J. Adams // Anatomy and Embryology. – 1995. – V. 191. – No. 2. https:// doi.org/10.1007/BF00186783
17. – Gray, C. Reluctant Genius: Alexander Graham Bell and the Passion for Invention / C. Gray. New York : Arcade Pub, 2006. – 466 с.
18. Greenwald, B. H. “A deaf variety of the human race”: Historical memory, Alexander Graham Bell, and eugenics / B. H. Greenwald, J. V. Van Cleve // The Journal of the Gilded Age and Progressive Era. – 2015. – V. 14. – No. 1. – P. 28-48. https://doi.org/10.1017/S1537781414000528
19. Greenwald, B. Revisiting Memoir Upon the Formation of a Deaf Variety of the Human Race: Alexander Graham Bell and Deaf Autonomy / B. Greenwald // In Our Own Hands: Essays in Deaf History, 1780–1970 / B. Greenwald, J. Murray ред. – Washington DC : Gallaudet University Press, 2016. – P. 149-170.
20. Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families. / P. Gasparini, X. Estivill, V. Volpini [et al.] // European Journal of Human Genetics: EJHG. – 1997. – V. 5. – No. 2. – P. 83-8
21. Marital Structure, Genetic Fitness, and the GJB2 Gene Mutations among Deaf People in Yakutia (Eastern Siberia, Russia) / G. P. Romanov, N. A. Barashkov, F. M. Teryutin [et al.] // Russian Journal of Genetics. 2018. No. 5 (54). C. 554–561. doi.org/10.1134/S1022795418050071
22. Mutations in the Connexin 26 Gene ( GJB2) among Ashkenazi Jews with Nonsyndromic Recessive Deafness / R. J. Morell, H. J. Kim, L.J. Hood [et al.] // New England Journal of Medicine. – 1998. – V. 339. – No. 21. – P. 1500-1505. https://doi.org/10.1056/NEJM199811193392103
23. 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.] // American journal of human genetics. – 1998. – V. 62. – No. 4. – P. 792-9. https://doi.org/10.1086/301807
24. Nance, W. E., Liu, X.-Z., Pandya, A. Relation between choice of partner and high frequency of connexin-26 deafness. / W.E. Nance // Lancet. 2000. No. 9228 (356). P. 500–501. https://doi.org/10.1016/S0140-6736(00)02565-4
25. Nance, W. E., Kearsey, M. J. Relevance of Connexin Deafness (DFNB1) to Human Evolution **This article represents the opinions of the authors and has not been peer-reviewed. /W.E. Nance // American Journal of Human Genetics. 2004. No. 6 (74). P. 1081–1087. https://doi.org/10.1086/420979
26. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. / F. Denoyelle, D. Weil, M. A. Maw [et al.] // Human molecular genetics. – 1997. – V. 6. – No. 12. – P. 2173-7. https://doi.org/10.1093/hmg/6.12.2173
27. Rose, S. P. Genetic Studies of Profound Prelingual Deafness / S. P. Rose. – Indiana University, 1975.
28. Rose, S. P. Genetic analysis of childhood deafness / S. P. Rose, P. M. Conneally, W. E. Nance // Childhood Deafness / F. Bess ред. – New York : Grune & Stratton, 1977. – P. 9-35.
29. Ruben, R. J. Sign language: its history and contribution to the understanding of the biological nature of language. / R. J. Ruben // Acta oto-laryngologica. – 2005. – V. 125. – No. 5. – P. 464-7. https://doi.org/10.1080/00016480510026287
30. Schein J. D., Delk Jr M. T. The deaf population of the United States. – 1974.
31. Wright, S. Systems of mating. III. Assortative mating based on somatic resemblance / S. Wright // Genetics. – 1921. – V. 6. – No. 2. – P. 144-161.
Рецензия
Для цитирования:
Романов Г.П., Барашков Н.А. Роль ассортативных браков по глухоте в распространенности наследственной потери слуха. Якутский медицинский журнал. 2022;(4):96-100. https://doi.org/10.25789/YMJ.2022.80.25
For citation:
Romanov G.P., Barashkov N.A. The role of assorted deafness marriages in the prevalence of hereditary hearing loss. Yakut Medical Journal. 2022;(4):96-100. https://doi.org/10.25789/YMJ.2022.80.25
Просмотров:
45
Послать статью по эл. почте 