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RNA SEQUENCING OF SQUAMOUS ESOPHAGEAL CANCER: FROM THE COLLECTION OF THE BIOMATERIAL UNTIL SEQUENCING ON HISEQ2000
The squamous esophageal cancer is a disease which is highly frequent in Kazakhstan, the frequency of the disease is 10,1:100 000. In the mortality structure esophageal cancer takes place among men the 5th place, among women the 9th place in the Republic of Kazakhstan. The molecular mechanisms which contribute to the initiation and progression of the cancer pathology are not investigated enough. Nevertheless, the lack of the sensitive and specific biomarkers for the diagnosis of the cancer diseases, underlines about the necessity of the additional research works to study about the development o...
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2016 год | Выпуск: 5 | Страницы: 53-63

DETERMINATION OF GENETIC VARIANTS ASSOCIATED WITH HYPERTENSION, OBESITY AND DIABETES IN KAZAKH POPULATION TO STUDY INTERACTION OF GENETIC VARIANTS AND METABOLOME
In this work genetic variants associated with hypertension, obesity and diabetes were characterized, and genomic data of 60 samples were compared using Т-HOD (The Text-mined Hypertension, Obesity and Diabetes candidate gene database (T-HOD) international database.
Genetic variants extracted from whole genomes and exomes, and associated with hypertension, obesity and diabetes based on PolyPhen2 and SIFT algorithmic predictors of mutation pathogenicity were analyzed. Seven genetic variants were detected in GHRL (rs4684677), MTHFR (rs1801133), OPRM1 (rs17999...
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2016 год | Выпуск: 5 | Страницы: 30-42

DETECTION OF MUTATIONS IN RPOB GENE RESPONSIBLE FOR RIFAMPICIN-RESISTANCE AMONG CLINICAL ISOLATES OF M. TUBERCULOSIS FROM DIFFERENT REGIONS OF KAZAKHSTAN
Spectrum of mutations in rpoB gene that cause resistance to one of the main antituberculosis drugs – rifampicin in clinical isolates of M. tuberculosis distributed in 3 regions (Almaty, Kostanay, Kyzylorda) of Kazakhstan was estimated in this study. High frequency of mutation at codon Ser531 of rpoB gene (79,2%) responsible for drug resistance to rifampicin was determined among M. tuberculosis population circulating in the mentioned regions.
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2014 год | Выпуск: 4 | Страницы: 26-27