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DEVELOPMENT OF HALOPLEX PANEL AND PREPARATION OF DNA LIBRARIES FOR TARGETED SEQUENCING OF CARDIAC ARRHYTHMIAS
Method of preparation of custom HaloPlex cardiogenetic panel (Agilent Technologies) and method of preparation of DNA libraries for targeted sequencing of 96 genes associated with cardiac arrhythmias were described in details in this article. SureDesign Online Design software (Agilent Technologies) was used to create the HaloPlex panel. Final design was developed for Illumina platform using Human Genome version 19, GRCh 37. 19958 amplicons were generated by the program, 99,46% of all target regions were covered successfully. DNA libraries were prepared for 48 samples using t...
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2016 year | Issue: 5 | Pages: 43-52
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... More
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... More
2016 year | Issue: 5 | Pages: 30-42
STRUCTURE AND FREQUENCY OF CHILDBIRTH COMPLICATIONS OF MACROSOMIA
The relevance study macrosomia’s problem lies in the fact that the great mass of the fetus at birth is associated with increased frequency of obstetric pathology, which in turn leads to an increase in perinatal mortality and have a negative impact on the further development of children [11,12,13,14,15].
Research objectives: Determine the structure of childbirth complications and the frequency at macrosomia.
Materials and Methods: Study design: US -skrining. The study group included 147 birth stories with large fetus. Selection of cases in the control group held "random digits ... More
Research objectives: Determine the structure of childbirth complications and the frequency at macrosomia.
Materials and Methods: Study design: US -skrining. The study group included 147 birth stories with large fetus. Selection of cases in the control group held "random digits ... More
2016 year | Issue: 4 | Pages: 93-103
DIAGNOSTIC VALUE OF MACROSOMIAS PREDICTOR
Determination of the expected weight of the fetus and the diagnosis of complications in childbirth remains debated issue. To select the optimum tactics of labor with large fetus and reduce the complications accurate methods of prenatal prediction of macrosomia are required.
Research objectives: to evaluate the diagnostic value of ultrasound measurement of abdominal circumference, as a predictor of macrosomia.
Materials and Methods: Study design: US -skrining. The study group included 147 birth stories with large fetus. Selection of cases in the control group held "random digit... More
Research objectives: to evaluate the diagnostic value of ultrasound measurement of abdominal circumference, as a predictor of macrosomia.
Materials and Methods: Study design: US -skrining. The study group included 147 birth stories with large fetus. Selection of cases in the control group held "random digit... More
2016 year | Issue: 4 | Pages: 84-92
Clinical and epidemiological characteristics of metastatic breast cancer in the north-eastern region of Kazakhstan
Actuality: Breast cancer (BC) is one of the most common diseases in the world among women. BC and its metastasis is a heterogeneous group of tumors that differ in morphology, clinical course, and sensitivity to the treatment, which is a serious clinical problem in oncology, thereby causing interest in this problem.
The aim of the study is to investigate the prevalence and clinical and morphological features of metastatic BC.
Materials and Methods: Design is retrospective study including 570 case histories. A retrospective analysis of data metastatic BC for the 2004-2013 yea... More
The aim of the study is to investigate the prevalence and clinical and morphological features of metastatic BC.
Materials and Methods: Design is retrospective study including 570 case histories. A retrospective analysis of data metastatic BC for the 2004-2013 yea... More
2016 year | Issue: 4 | Pages: 74-83