[Burden of hereditary diseases in residents of the Sakh republic (Iakutiia)].

Autor: Tarskaia LA; Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, 123182 Russia. tarskaya@yahoo.com, Zinchenko RA, El'chiniova GI, Egorova AG, Korotov MN, Basova EV, Prokop'eva AM, Sivtseva EN, Nikolaeva EE, Banshchikova ES, Samarkina MV, Sannikova AN, Danilova GI, Zhelobtsova AF, Danilova AP, Popova GN
Jazyk: ruština
Zdroj: Genetika [Genetika] 2003 Dec; Vol. 39 (12), pp. 1719-22.
Abstrakt: Summarized data of medical genetic survey of the population of Republic of Sakha (Yakutia) are presented. The number of the population examined constituted 1000700 individuals (including 424500000 of urban and 576,200 of rural population, respectively). Regarding the ethnicity, 33 regions of the Republic examined were at most inhabited by Yakuts (36%) and Russians (55%). A total of 400 families (606 patients) with autosomal dominant, 274 families (369 patients) with autosomal recessive, and 42 families (53 patients) with X-linked pathologies were detected. The segregation analysis performed showed good correlation with the expected type of inheritance for both dominant and recessive diseases. The prevalence rate of monogenic hereditary diseases for rural and urban populations, as well as for solely Yakuts, was calculated. It was shown that weighted average prevalence of dominant (0.68; 1.44) and recessive (0.43; 0.86) disorders in Yakuts was two times higher than in total population examined.
Databáze: MEDLINE