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The Structure and Diversity of Hereditary Pathology in Sakha Republic (Yakutia)

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Abstract

The diversity of Mendelian hereditary pathology has been studied in Sakha Republic (Yakutia). The sample comprised 1 000 700 subjects, including 363 316 Yakuts, 14 428 Evenks, 8668 Evens, 550 263 Russians, and 64 025 subjects from other ethnic groups. Fifty-one autosomal dominant (AD) diseases, including five diseases with frequencies of 1 : 50 000 or higher; 40 autosomal recessive (AR) diseases, including eight diseases with frequencies of 1 : 50 000 or higher in the Yakut population; and five X-linked diseases have been detected.

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Authors and Affiliations

  1. Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, 123182, Russia

    L. A. Tarskaia

  2. Medical Genetic Research Center, Russian Academy of Medical Sciences, Moscow, 115478, Russia

    R. A. Zinchenko & G. I. Elchinova

  3. Ministry of Health of Sakha Republic (Yakutia), Yakutsk, 677011, Republic of Sakha (Yakutia), Russia

    A. G. Egorova

  4. Republican Center of Urgent Medical Care, Yakutsk, 677005, Republic of Sakha (Yakutia), Russia

    M. N. Korotov

  5. National Medical Center, Yakutsk, 677010, Republic of Sakha (Yakutia), Russia

    E. V. Basova

  6. Yakutia Republican Ophthalmologic Hospital, Yakutsk, 677005, Republic of Sakha (Yakutia), Russia

    A. M. Prokopeva, E. N. Sivtseva, E. E. Nikolaeva, E. S. Banshikova, M. V. Samarkina, A. N. Sannikova, G. I. Danilova & A. F. Jhelobtsova

  7. Institute of Health, Academy of Sciences of Sakha Republic (Yakutia), Yakutsk, 677010, Republic of Sakha (Yakutia), Russia

    A. P. Danilova

  8. Yakutia State University, Yakutsk, 677013, Republic of Sakha (Yakutia), Russia

    G. N. Popova

Authors
  1. L. A. Tarskaia
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  2. R. A. Zinchenko
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  3. G. I. Elchinova
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  4. A. G. Egorova
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  5. M. N. Korotov
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  6. E. V. Basova
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  7. A. M. Prokopeva
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  8. E. N. Sivtseva
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  9. E. E. Nikolaeva
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  10. E. S. Banshikova
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  11. M. V. Samarkina
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  12. A. N. Sannikova
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  13. G. I. Danilova
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  14. A. F. Jhelobtsova
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  15. A. P. Danilova
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  16. G. N. Popova
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Tarskaia, L.A., Zinchenko, R.A., Elchinova, G.I. et al. The Structure and Diversity of Hereditary Pathology in Sakha Republic (Yakutia). Russian Journal of Genetics 40, 1264–1272 (2004). https://doi.org/10.1023/B:RUGE.0000048669.22362.1c

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  • DOI: https://doi.org/10.1023/B:RUGE.0000048669.22362.1c

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