Autor: |
Tarskaia LA, Zinchenko RA, El'chinova GI, Egorova AG, Korotov MN, Basova EV, Prokop'eva AM, Sivtseva EN, Nikolaeva EE, Banshchinkova ES, Samarkina MV, Danilova GI, Zhelobtsova AF, Danilova AP, Popova GN |
Jazyk: |
ruština |
Zdroj: |
Genetika [Genetika] 2004 Nov; Vol. 40 (11), pp. 1530-9. |
Abstrakt: |
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. |
Databáze: |
MEDLINE |
Externí odkaz: |
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