The population of Gornomariiskii raion, Marii El Republic, primarily m
ade up of mountain Marii, was subjected to medical genetic examination
. The size of the entire population is 54 853. Estimates of hereditary
pathology in urban and rural populations of the raion were obtained.
They were 0.68 and 1.11, respectively, for autosomal dominant patholog
y (AD); 0.55 and 0.81 for autosomal recessive pathology (AR); and 0.45
and 0.20 for X-linked pathology. Twenty-two, 25, and six nosologic fo
rms of autosomal dominant, autosomal recessive, and X-linked diseases
were revealed, respectively. We attempted to compare the sample under
consideration with previously studied Russian and Finnish populations
for rare pathologic recessive genes.