Search results for "Genotyping"
showing 10 items of 250 documents
Copulation duration, but not paternity share, potentially mediates inbreeding avoidance in Drosophila montana
2014
Studying the incidence of inbreeding avoidance is important for understanding the evolution of mating systems, especially in the context of mate choice for genetic compatibility. We investigated whether inbreeding avoidance mechanisms have evolved in the malt fly, Drosophila montana, by measuring mating latency (a measure of male attractiveness), copulation duration, days to remating, offspring production, and the proportion of offspring sired by the first (P1) and second (P2) male to mate in full-sibling and unrelated pairs. SNP markers were used for paternity analysis and for calculating pairwise relatedness values (genotype sharing) between mating pairs. We found 18 % inbreeding depressi…
Lack of association betweenMDM2promoter SNP309 and clinical outcome in patients with neuroblastoma
2014
While a polymorphism located within the promoter region of the MDM2 proto-oncogene, SNP309 (T > G), has previously been associated with increased risk and aggressiveness of neuroblastoma and other tumor entities, a protective effect has also been reported in certain other cancers. In this study, we evaluated the association of MDM2 SNP309 with outcome in 496 patients with neuroblastoma and its effect on MDM2 expression. No significant difference in overall or event-free survival was observed among patients with neuroblastoma with or without MDM2 SNP309. The presence of SNP309 does not affect MDM2 expression in neuroblastoma. Pediatr Blood Cancer 2014; 61:1867–1870. © 2014 Wiley Periodicals,…
Genome-wide detection of copy-number variations in local cattle breeds
2019
The aim of the present study was to identify copy-number variations (CNVs) in Cinisara (CIN) and Modicana (MOD) cattle breeds on the basis of signal intensity (logR ratio) and B allele frequency of each marker, using Illumina’s BovineSNP50K Genotyping BeadChip. The CNVs were detected with the PennCNV and SVS 8.7.0 software and were aggregated into CNV regions (CNVRs). PennCNV identified 487 CNVs in CIN that aggregated into 86 CNVRs, and 424 CNVs in MOD that aggregated into 81 CNVRs. SVS identified a total of 207 CNVs in CIN that aggregated into 39 CNVRs, and 181 CNVs in MOD that aggregated into 41 CNVRs. The CNVRs identified with the two softwares contained 29 common CNVRs in CIN and 17 co…
Metodo per la genotipizzazione di HIV-1 e relativi kit diagnostici per la rilevazione di farmaco-resistenza (gene ENV-gp41).
2007
DESCRIPTION OF THE INVENTION This invention concerns a laboratory method for genotyping human immunodeficiency virus type 1 (HIV-1) through gene sequencing of gp41-env. It allows to detect the nucleotide mutations conferring resistance to antiretroviral drugs active to gp41-env. The present method allows to analyze also low viraemia samples at around 101 -102 copies HIV-RNA/ml. This method offers the advantage of being easily adaptable to both plasma and cellular samples and is therefore able to value "in advance" the genetic mutations potentially involved in the resistance phenomena to anti-retroviral drugs, even in patients with optimal/sub-optimal virologic control. The kit use the one-s…
Metodo per la genotipizzazione di HIV-1 e relativi kit diagnostici per la rilevazione di farmaco-resistenza (geni GAG/POL).
2007
DESCRIPTION OF THE INVENTION This invention concerns a laboratory method for genotyping human immunodeficiency virus type 1 (HIV-1) through gene sequencing of pol. It allows to detect the nucleotide mutations conferring resistance to antiretroviral drugs active to pol. The present method allows to analyze also low viraemia samples at around 101 -102 copies HIV-RNA/ml. This method offers the advantage of being easily adaptable to both plasma and cellular samples and is therefore able to value "in advance" the genetic mutations potentially involved in the resistance phenomena to anti-retroviral drugs, even in patients with optimal/sub-optimal virologic control. The kit use the one-step RT-PCR…
Palaeogenetics and cultural heritage. Species determination and STR-genotyping from ancient DNA in art and artefacts
2000
Abstract In recent years, a few papers have addressed the palaeogenetic analysis of cultural, historical and archaeological artefacts. We provide an overview of the individual published articles and then describe the results we had in the framework of a palaeogenetic research project involving various historical and prehistoric finds from museums, archaeological excavations, and libraries. We show that ancient DNA can be isolated from most of the various biomaterials (leather, parchment, glue, binding media, crusted organic plant remains in containers). Short pieces of degraded DNA are used, on the one hand, to determine the organic remnant’s genus/species of origin, and on the other hand, …
Thiopurine
2020
Background: Thiopurine methyltransferase (TPMT) plays a significant role in the metabolism of thiopurines, and, for patients with inflammatory bowel disease (IBD), it is useful to perform TPMT genotyping prior to azathioprine (AZA) treatment. In this study, we determined TPMT gene polymorphisms in a cohort of IBD patients in Latvia. Methods: DNA samples were obtained from 244 IBD patients, and qPCR was performed for detection of rs1800462, rs1800460, and rs1142345 single-nucleotide polymorphisms (SNPs). Three common, non-functional TPMT alleles ( TPMT*2, *3B, and *3C) were identified (women, 51%; men, 49%). TPMT*2, *3A, *3B, and *3C allelic variants detected using qPCR were consistent with …
Prevalence estimation of celiac disease in the general adult population of Latvia using serology and HLA genotyping
2015
Background: Prevalence estimates for celiac disease (CD) depend on the method used. The role of deamidated gliadin peptide (DGP) and genetic testing in epidemiological studies and diagnostic settings of celiac disease (CD) has still to be established. Objectives: The objective of this article is to assess the prevalence of CD in Latvia by combining serological tests with DQ2.5/ DQ8 testing. Methods: A total of 1444 adults from a randomly selected cross-sectional general population sample were tested by ELISA for tTG IgA, DGP IgA and IgG antibodies (QUANTA Lite, Inova Diagnostics Inc). Samples with tTG IgA 20U were tested for EMA IgA by indirect immunofluorescence assay, and all specimens wi…
Effects of polymorphisms in endothelial nitric oxide synthase and folate metabolizing genes on the concentration of serum nitrate, folate, and plasma…
2015
Abstract Objectives A number of studies have explored the effects of dietary nitrate on human health. Nitrate in the blood can be recycled to nitric oxide, which is an essential mediator involved in many important biochemical mechanisms. Nitric oxide is also formed in the body from l -arginine by nitric oxide synthase. The aim of this study was to investigate whether genetic polymorphisms in endothelial nitric oxide synthase (eNOS) and genes involved in folate metabolism affect the concentration of serum nitrate, serum folate, and plasma total homocysteine in healthy individuals after folic acid supplementation. Methods In a randomized double-blind, crossover study, participants were given …
Lack of Association Between Rs2067474 Polymorphism in the Histamine Receptor H2 Gene and Gastric Cancer In Latvian Population
2018
Abstract Histamine has an important role in the process of the gastric mucosa inflammation acting via histamine receptor H2 (encoded by the gene HRH2). Single nucleotide polymorphism of the enhancer element of HRH2 gene promoter rs2067474 (1018G>A)may be associated with changes of expression of the receptor. We attempted to clarify the association of this polymorphism with gastric cancer and/or atrophic gastritis in the Latvian (Caucasian) population. The study group consisted of 121 gastric cancer patients and 650 patients with no evidence of gastric neoplasia on upper gastrointestinal endoscopy. Genotyping for rs2067474 was performed with the TaqMan probe-based system using a commercia…