Genotyping of hundreds of individuals from Kazakh population in Kazakhstan
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PROVIDER: PRJNA819402 | ENA |
REPOSITORIES: ENA
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Project description:Genotyping of hundreds of healthy individuals with Kazakh ethnicity as a reference cohort for further genetic investigations
2024-10-04 | GSE199322 | GEO
Project description:NGS and analysis of Kazakh genomes
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Project description:Artemia sp. Kazakhstan ARC1039 isolate:Kazakhstan ARC1039 Genome sequencing and assembly
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Project description:Investigate long non-coding RNA (lncRNA) expression characteristics in the peripheral blood lymphocytes of Xinjiang Kazakh people with essential hypertension.
2023-06-10 | GSE234085 | GEO
Project description:AimTo study the genetic relationship of Kazakhs from East Kazakhstan to other Eurasian populations by examining paternal and maternal DNA lineages.MethodsWhole blood samples were collected in 2010 from 160 unrelated healthy Kazakhs residing in East Kazakhstan. Genomic DNA was extracted with Wizard genomic DNA Purification Kit. Nucleotide sequence of hypervariable segment I of mitochondrial DNA (mtDNA) was determined and analyzed. Seventeen Y-short tandem repeat (STR) loci were studied in 67 samples with the AmpFiSTR Y-filer PCR Amplification Kit. In addition, mtDNA data for 2701 individuals and Y-STR data for 677 individuals were retrieved from the literature for comparison.ResultsThere was a high degree of genetic differentiation on the level of mitochondrial DNA. The majority of maternal lineages belonged to haplogroups common in Central Asia. In contrast, Y-STR data showed very low genetic diversity, with the relative frequency of the predominant haplotype of 0.612.ConclusionThe results revealed different migration patterns in the population sample, showing there had been more migration among women. mtDNA genetic diversity in this population was equivalent to that in other Central Asian populations. Genetic evidence suggests the existence of a single paternal founder lineage in the population of East Kazakhstan, which is consistent with verbal genealogical data of the local tribes.
| S-EPMC3583390 | biostudies-literature
Project description:Background and objectivesHepatitis C virus (HCV) infection is a common cause of cirrhosis worldwide, leading to significant economic and social burdens. Approximately 170 million people (3% of the population) are infected with HCV, with the risk of developing complications such as cirrhosis and hepatocellular carcinoma. In the United States, HCV is the main cause of liver cirrhosis, accounting for 26% of cases. Recent studies have shown an increase in the proportion of HCV-related liver cirrhosis.Materials and methodsA total of 102 patients with chronic hepatitis C in the reactivation phase from the Atyrau and Aktobe regional hepatology centers, who had not previously received antiviral therapy, were examined. A control group, matched by gender and age, included 127 practically healthy individuals of Kazakh nationality. All patients underwent a comprehensive examination, which included a complete blood count, a biochemical blood analysis and PCR for HCV. Venous blood samples were taken from all subjects for molecular genetic analysis. Genotyping of TLR3 polymorphism (rs5743312, rs5743305, rs3775291, rs5743311, rs1879026) was performed using real-time PCR. Thes study is a case control study.ResultsIn patients with cirrhosis of the liver resulting from chronic hepatitis C (HCV), the results of biochemical analysis were statistically significantly higher than in patients with HCV without liver cirrhosis: the levels of total bilirubin (p 0.017*), alkaline phosphatase (p 0.022*), and gamma-glutamyl transferase (0.041*) were elevated. The results indicated that the CC genotype of TLR3 rs1879026 was associated with the development and chronicity of HCV infection compared to practically healthy individuals (p=0.001). In the distribution of genotypes and alleles for rs5743312, rs5743305, rs3775291, and rs5743311, no significant differences were found between patients with HCV and the healthy control group.ConclusionThe TLR3 rs1879026 gene polymorphism plays a significant role in the predisposition to HCV infection in the Kazakh population of the Aktobe and Atyrau regions.
| S-EPMC10772782 | biostudies-literature
Project description:Introduction:ABO blood group genotyping is a new technology in hematology that helps prevent adverse transfusion reactions in patients. Identification of antigens on the surface of red blood cells is based on serology; however, genotyping employs a different strategy and is aimed directly at genes that determine the surface proteins. ABO blood group genotyping by real-time PCR has several crucial advantages over other PCR-based techniques, such as high rapidity and reliability of analysis. The purpose of this study was to examine nucleotide substitutions differences by blood types using a PCR-based method on Kazakh blood donors. Methods:The study was approved by the Ethics Committee of the National Center for Biotechnology. Venous blood samples from 369 healthy Kazakh blood donors, whose blood types had been determined by serological methods, were collected after obtaining informed consent. The phenotypes of the samples included blood group A (n = 99), B (n = 93), O (n = 132), and AB (n = 45). Genomic DNA was extracted using a salting-out method. PCR products of ABO gene were sequenced on an ABI 3730xl DNA analyzer (Applied Biosystems). The resulting nucleotide sequences were compared and aligned against reference sequence NM_020469.2. Real-time PCR analysis was performed on CFX96 Touch™ Real-Time PCR Detection System (BioRad). Results:Direct sequencing of ABO gene in 369 samples revealed that the vast majority of nucleotide substitutions that change the ABO phenotype were limited to exons 6 and 7 of the ABO gene at positions 261, 467, 657, 796, 803, 930 and 1,060. However, genotyping of only three of them (261, 796 and 803) resulted in identification of major ABO genotypes in the Kazakh population. As a result, TaqMan probe based real-time PCR assay for the specific detection of genotypes 261, 796 and 803 was developed. The assay did not take into account several other mutations that may affect the determination of blood group, because they have a low occurrence rate and therefore have not been found in the population sample. Conclusion:Real-time PCR based method for fast and reliable ABO genotyping was developed. This assay may be used as a complement to classic serological blood typing.
| S-EPMC5960945 | biostudies-literature
Project description:GeneSeek HD Bovine 77k Genotyping array is used to estimate population structure and ancestry of bovine and evaluate loci responsible for complex traits. Further, copy number variation of bovine can be estimated by GeneSeek HD Bovine 77k Genotyping array. Here, we estimate population structure and ancestry of Qinchuan cattle.
2017-06-15 | GSE100038 | GEO
Project description:Esophageal squamous cell carcinoma (ESCC) is characterized as a metabolic disorder characterized by lipid metabolic reprogramming. To investigate the regional characteristics of ESCC patients in Xinjiang Province, China, and lipid metabolism, in this study, we described the characteristics of the serum lipid composition in Kazakh ESCC patients by performing an integrated analysis of the transcriptome and lipidomic data. Serum samples from 30 Kazakh ESCC patients and 30 healthy individuals were subjected to targeted lipid metabolomics analysis via UPLC‒MS/MS, while 3 tumor samples and matched adjacent normal tissues from 30 ESCC patients were subjected to transcriptome analysis. Compared with those in the healthy group, we observed obvious changes in the serum lipid subclass content, chain length and unsaturation in the ESCC patients. Integrated lipidomic and transcriptomic analyses revealed that unsaturated fatty acid biosynthesis, fatty acid metabolism, lipid degradation, cholesterol metabolism and the AMPK signaling pathway were enriched in tumor tissues. In addition, RT–qPCR results demonstrated that genes closely related to these pathways were differentially expressed between the ESCC group and the healthy control group. Considering the key role of AMPK in lipid metabolism, we conducted a targeted lipid metabolomics analysis on AMPK-knockdown esophageal cancer cells by UPLC‒MS/MS. These findings suggested that AMPK might be correlated with lipid metabolism in Kazakh ESCC patients, identifying potential therapeutic targets of AMPK and other lipid metabolism-related markers against the progression of ESCC.
2024-01-17 | GSE253171 | GEO
Project description:BackgroundThe Kazakhs are one of the biggest Turkic-speaking ethnic groups, controlling vast swaths of land from the Altai to the Caspian Sea. In terms of area, Kazakhstan is ranked ninth in the world. Northern, Eastern, and Western Kazakhstan have already been studied in relation to genetic polymorphism 27 Y-STR. However, current information on the genetic polymorphism of the Y-chromosome of Southern Kazakhstan is limited only by 17 Y-STR and no geographical study of other regions has been studied at this variation.ResultsThe Kazakhstan Y-chromosome Haplotype Reference Database was expanded with 468 Kazakh males from the Zhambyl and Turkestan regions of South Kazakhstan by having their 27 Y-STR loci and 23 Y-SNP markers analyzed. Discrimination capacity (DC = 91.23%), haplotype match probability (HPM = 0.0029) and haplotype diversity (HD = 0.9992) are defined. Most of this Y-chromosome variability is attributed to haplogroups C2a1a1b1-F1756 (2.1%), C2a1a2-M48 (7.3%), C2a1a3-F1918 (33.3%) and C2b1a1a1a-M407 (6%). Median-joining network analysis was applied to understand the relationship between the haplotypes of the three regions. In three genetic layer can be described the position of the populations of the Southern region of Kazakhstan-the geographic Kazakh populations of Kazakhstan, the Kazakh tribal groups, and the people of bordering Asia.ConclusionThe Kazakhstan Y-chromosome Haplotype Reference Database was formed for 27 Y-STR loci with a total sample of 1796 samples of Kazakhs from 16 regions of Kazakhstan. The variability of the Y-chromosome of the Kazakhs in a geographical context can be divided into four main clusters-south, north, east, west. At the same time, in the genetic space of tribal groups, the population of southern Kazakhs clusters with tribes from the same region, and genetic proximity is determined with the populations of the Hazaras of Afghanistan and the Mongols of China.
| S-EPMC10612363 | biostudies-literature