Diversity of autosomal dominant diseases in populations of Russia

Results of 20-year studies on the diversity of autosomal dominant (AD) dise ases are summarized. The studies were carried out in six regions of Russia: Kirov, Kostroma, and Bryansk oblasts; Krasnodar krai; and Adygea and Marii El republics. A total of 1.5 million subjects from 44 raions (districts) w ere studied. In the populations studied, 144 AD diseases were found; the to tal number of affected persons was 1723. The prevalence rate in the region where the disease was found and the average prevalence rate in the total po pulation studied were calculated for each disease. Only 11 AD diseases had prevalence rates of 1 : 50 000 or higher. About half of AD diseases (64) ha d a very low prevalence rate (1 : 861 408). However, most cases (about 70% of the affected persons) were accounted for by more frequent diseases. Fort y-six diseases exhibited local accumulation. The AD mutation rate was estim ated by direct calculation. This rate was 0.542 x 10(-6) per gamete per gen eration.