The frequency of a genetic variant in a population is crucially important for accurate interpretation of known and novel variant effects in medical genetics. Recently, several large allele frequency databases, such as Genome Aggregation Database (gnomAD), have been created to serve as a global reference for such studies. However, frequencies of many rare alleles vary dramatically between populations, and population-specific allele frequency can be more informative than the global one. Many countries and regions (including Russia) remain poorly studied from the genetic perspective. Here, we report the first successful attempt to integrate genetic information between major medical genetic laboratories in Russia. We construct an expanded reference set of genetic variants by analyzing 6,096 exome samples collected in two major Russian cities of Moscow and St. Petersburg. An approximately tenfold increase in sample size compared to previous studies allowed us to identify genetically distinct clusters of individuals within an admixed population of Russia. We show that up to 18 known pathogenic variants are overrepresented in Russia compared to other European countries. We also identify several dozen high-impact variants that are present in healthy donors despite either being annotated as pathogenic in ClinVar or falling within genes associated with autosomal dominant disorders. The constructed database of genetic variant frequencies in Russia has been made available to the medical genetics community through a variant browser available at http://ruseq.ru.
Abstract: The aim of the study is the analytical substantiation of the perspective trendthe development of specialized fermented foods. According to the stable trend of using a balanced diet for the prevention and treatment of gastrointestinal diseases (for which dairy products are enriched with probiotics), a bioproduct has been developed, the formulation of which includes cottage cheese, cream, starter cultures of probiotic cultures, berry syrup, wheat bran. Cottage cheese is prepared by fermentation of a mixture consisting of buttermilk, wheat bran and biologically active additive "Nash lecitin", a leaven based on the association of starter (probiotic) cultures Lactobacillus acidophilus, B. lactis, B. longum, Streptococcus thermophilus in an immobilized form, by nanofiltration. Its chemical composition, nutritional and biological value were studied and microbiological parameters characterizing its functional properties were determined. Cottage cheese bioproduct recommended both for mass catering and for elderly persons nutrition.
This paper aimed to study the fatty acid composition of turkey meat. Red and white turkey meat were sampled from the local markets of Semey city, republic of Kazakhstan. The proximate composition showed a significant difference in the fat content of red and white meat. The fatty acid composition of turkey meat was as follows: saturated fatty acids 50.67% in white and 52.64% in red meat; monounsaturated fatty acids 28.07% in white and 23.79% in red meat; polyunsaturated fatty acids 21.26% in white and 23.57% in red meat. Palmitic and pentadecanoic are the major saturated fatty acids, where the oleic and linoleic acids are in a large amount in monounsaturated and polyunsaturated fatty acids, respectively.
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