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