The Structure and Diversity of Hereditary Pathology in Sakha Republic (Yakutia)
Authors:
- 1 November 2004
- journal article
- abstracts
- Published by Springer Nature in Russian Journal of Genetics
- Vol. 40 (11) , 1264-1272
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.Keywords
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