title: [Diversity of hereditary pathology in the population of Marii El Republic and its differentiation with respect to gene frequencies for hereditary diseases].
abstract: The diversity of Mendelian hereditary pathology was studied in Marii El Republic. In total, 276,900 subjects, including 171,151 Maris and 88,714 Russians, living in seven raions (districts) were studied. Fifty-five autosomal dominant disease entities were found, with more than ten diseases having a frequency of 1:50,000 people or higher. In Maris, autosomal recessive hypotrichosis was observed at a relatively high frequency (1:15,337); this disease was not revealed in the Russian population studied earlier. Conversely, no phenylketonuria (PKU) was found in Maris, while it was a relatively common autosomal recessive disease in Russians. Regarding autosomal dominant pathology, 76 disease entities were revealed, with 21 diseases being observed at a frequency of at least 1:50,000. Ten X-linked diseases were found. The numbers of both autosomal recessive and autosomal dominant diseases exhibited a linear relationship with the number of subjects examined. The genetic structure of the Mari population was studied on the basis of data on the genes of recessive diseases. A matrix of Nei's genetic distances was calculated from the frequencies of 45 recessive diseases found in the seven districts studied. The average genetic distance calculated for the 45 loci of autosomal recessive diseases was 0.006175 x 10(-3). Similarly, matrix of genetic distances for five Mari populations was obtained (Medvedevskii and Zvenigovskii raions were not included) based on a total of 32 allelic frequencies for ten polymorphic immune and biochemical loci. The average genetic distance calculated from the ten polymorphic loci was 0.001930, i.e., 2.5 orders of magnitude greater than the average genetic distance for recessive diseases. The matrices of genetic distances for the five Mari populations calculated from the gene frequencies for recessive diseases and for the ten polymorphic systems were largely similar to each other. Thus, the main elements of the genetic structure of the Mari population can be estimated on the basis of gene frequencies for hereditary diseases. In this case, the characteristics of individual populations, which are more or less isolated, and of their interaction are the same as in the case of studying genetic structure with the use of polymorphic biological markers.
authors.affiliation: Research Center for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia.
authors.forename: E K
authors.initials: EK
authors.lastname: Ginter
authors.forename: R A
authors.initials: RA
authors.lastname: Mamedova
authors.forename: S I
authors.initials: SI
authors.lastname: Kozlova
authors.forename: V A
authors.initials: VA
authors.lastname: Galkina
authors.forename: I S
authors.initials: IS
authors.lastname: Moshkina
authors.forename: G E
authors.initials: GE
authors.lastname: Rudenskaia
authors.forename: O V
authors.initials: OV
authors.lastname: Khlebnikova
authors.forename: S D
authors.initials: SD
authors.lastname: Nurbaev
authors.forename: E V
authors.initials: EV
authors.lastname: Balanovskaia
authors.forename: V P
authors.initials: VP
authors.lastname: Rassanov
mesh_terms: D005260:Female; D005787:Gene Frequency; D005799:Genes, Dominant; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D012426:Russia; D014960:X Chromosome