Analysis of diversity of autosomal recessive diseases in populations of Russia

The diversity of autosomal recessive (AR) diseases was studied in six Russi an regions: the Kirov, Kostroma, and Bryansk oblasts; Adygea Republic; Kras nodar krai, and Marii El Republic (in the latter region, the Mari and Russi an ethnic groups were studied separately). In total, more than 1.5 million people were studied. The spectrum of the AR diseases included 101 nosologic al forms; the total number of the affected was 942. For all diseases, the p revalence rate in the region where they were found and the mean prevalence rate in the total population studied were calculated. Only seven AR disease s had prevalence rates of 1 : 50 000 or higher; however, this group contain ed about 50% of the patients. About half of the AR diseases (66) had an ext remely low prevalence rate (1 : 877 483). Eleven diseases exhibit local acc umulation. Accumulation of some or other diseases was only observed in four out of seven populations studied (Marii El, Adygea, and the Kirov and Brya nsk oblasts). To determine the cause of the local accumulation of some dise ases in populations, correlation analysis of the dependence of accumulation of hereditary diseases on the genetic structure of the populations studied was performed. The accumulation coefficients for AR and autosomal dominant (AD) diseases and the mean values of random inbreeding (F-st) in individua l districts were calculated for all populations studied. The coefficients o f the Spearman rank correlation between the accumulation coefficient and ra ndom inbreeding (F-st) were 0.68 and 0.86 for the AD and AR diseases, respe ctively. The correlation between the accumulation of AD and AR diseases was 0.86. The relationships found indicate that the diversity of AD and AR dis eases, as well as the genetic load, distinctly depended on the population g enetic structure and were largely determined by genetic drift.