title: [The structure and diversiity of hereditary pathology in Sakha Republic (Yakutia)].
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.
authors.forename: L A
authors.initials: LA
authors.lastname: Tarskaia
authors.forename: R A
authors.initials: RA
authors.lastname: Zinchenko
authors.forename: G I
authors.initials: GI
authors.lastname: El'chinova
authors.forename: A G
authors.initials: AG
authors.lastname: Egorova
authors.forename: M N
authors.initials: MN
authors.lastname: Korotov
authors.forename: E V
authors.initials: EV
authors.lastname: Basova
authors.forename: A M
authors.initials: AM
authors.lastname: Prokop'eva
authors.forename: E N
authors.initials: EN
authors.lastname: Sivtseva
authors.forename: E E
authors.initials: EE
authors.lastname: Nikolaeva
authors.forename: E S
authors.initials: ES
authors.lastname: Banshchinkova
authors.forename: M V
authors.initials: MV
authors.lastname: Samarkina
authors.forename: G I
authors.initials: GI
authors.lastname: Danilova
authors.forename: A F
authors.initials: AF
authors.lastname: Zhelobtsova
authors.forename: A P
authors.initials: AP
authors.lastname: Danilova
authors.forename: G N
authors.initials: GN
authors.lastname: Popova
mesh_terms: D005799:Genes, Dominant; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology; D006801:Humans; D012800:Siberia