scholarly journals Genetic Profile in Genes Associated with Cardiorespiratory Fitness in Elite Spanish Male Endurance Athletes

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1230
Author(s):  
David Varillas-Delgado ◽  
Juan José Tellería Orriols ◽  
Juan Del Coso
Keyword(s):  
Polymerase Chain Reaction ◽  
Target Genes ◽  
Endurance Performance ◽  
Complex Trait ◽  
Endurance Athletes ◽  
Genetic Profile ◽  
Chain Reaction ◽  
Genotype Score ◽  
The Mean ◽  
Polymerase Chain

Background: most of the research concerning the influence of genetics on endurance performance has been carried out by investigating target genes separately. However, endurance performance is a complex trait that can stem from the interaction of several genes. The objective of this study was to compare the frequencies of polymorphisms in target genes involving cardiorespiratory functioning in elite endurance athletes vs. non-athlete controls. Methods: genotypic frequencies were determined in 123 elite endurance athletes and in 122 non-athletes. Genotyping of ACE (rs4340), NOS3 (rs2070744 and rs1799983), ADRA2a (rs1800544 and rs553668), ADRB2 (rs1042713 and rs1042714), and BDKRB2 (rs5810761) was performed by polymerase chain reaction. The total genotype score (TGS: from 0 to 100 arbitrary units; a.u.) was calculated from the genotype score in each polymorphism. Results: the mean TGS in non-athletes (47.72 ± 11.29 a.u.) was similar to elite endurance athletes (46.54 ± 11.32 a.u., p = 0.415). The distribution of TGS frequencies were also similar in non-athletes and elite endurance athletes (p = 0.333). There was no TGS cut-off point to discriminate being elite endurance athletes. Conclusions: the genetic profile in the selected genes was similar in elite endurance athletes and in controls, suggesting that the combination of these genes does not determine endurance performance.

scholarly journals Evaluation of Amplification Targets for the Specific Detection ofBordetella pertussisUsing Real-Time Polymerase Chain Reaction

2014 ◽  
Vol 25 (4) ◽  
pp. 217-221 ◽  
Author(s):  
Mohammad Rubayet Hasan ◽  
Rusung Tan ◽  
Ghada N Al-Rawahi ◽  
Eva Thomas ◽  
Peter Tilley
Keyword(s):  
Polymerase Chain Reaction ◽  
Real Time ◽  
Target Genes ◽  
Reference Panel ◽  
Superior Performance ◽  
Clinical Samples ◽  
Analytical Sensitivity ◽  
Chain Reaction ◽  
Pcr Assay ◽  
Polymerase Chain

BACKGROUND:Bordetella pertussisinfections continue to be a major public health challenge in Canada. Polymerase chain reaction (PCR) assays to detectB pertussisare typically based on the multicopy insertion sequence IS481, which offers high sensitivity but lacks species specificity.METHODS: A novelB pertussisreal-time PCR assay based on the porin gene was tested in parallel with several previously published assays that target genes such as IS481,ptx-promoter, pertactin and a putative thialase. The assays were evaluated using a reference panel of common respiratory bacteria including differentBordetellaspecies and 107 clinical nasopharyngeal specimens. Discrepant results were confirmed by sequencing the PCR products.RESULTS: Analytical sensitivity was highest for the assay targeting the IS481element; however, the assay lacked specificity forB pertussisin the reference panel and in the clinical samples. False-positive results were also observed with assays targeting theptx-promoter and pertactin genes. A PCR assay based on the thialase gene was highly specific but failed to detect all reference strains ofB pertussis. However, a novel assay targeting the porin gene demonstrated high specificity forB pertussisboth in the reference panel and in clinical samples and, based on sequence-confirmed results, correctly predicted allB pertussis-positive cases in clinical samples. According to Probit regression analysis, the 95% detection limit of the new assay was 4 colony forming units/reaction.CONCLUSION: A novel porin assay forB pertussisdemonstrated superior performance and may be useful for improved molecular detection ofB pertussisin clinical specimens.

Evaluation of three polymerase chain reaction techniques for detection ofBrucellaDNA in peripheral human blood

2008 ◽  
Vol 54 (5) ◽  
pp. 352-357 ◽  
Author(s):  
Manal M. Baddour ◽  
Dalal H. Alkhalifa
Keyword(s):  
Polymerase Chain Reaction ◽  
Human Blood ◽  
Target Genes ◽  
Chain Reaction ◽  
Clinical Diagnostic Laboratory ◽  
Gene Encoding ◽  
Diagnostic Laboratory ◽  
Human Blood Samples ◽  
Polymerase Chain ◽  
Pcr Techniques

Brucellosis is a widespread zoonosis. Currently the diagnosis of this zoonosis is based on microbiological and serological laboratory tests. Polymerase chain reaction (PCR) has been used to detect DNA from Brucella . Different target genes, primer pairs, PCR techniques, and extraction procedures have previously been published for Brucella detection. But only a few of these primers have been used in human samples, and only one study has been carried out to compare sensitivity between them. In the present study, 3 sets of primers and 3 different PCR protocols amplifying 3 different regions of the Brucella genome were compared for detection of Brucella DNA in a peripheral-blood PCR assay to conclude which is most suitable for the clinical diagnostic laboratory. These 3 pairs of primers amplify 3 different fragments included in (i) a gene encoding a 31 kDa Brucella abortus antigen (B4/B5), (ii) a sequence 16S rRNA of B. abortus (F4/R2), and (iii) a gene encoding an outer membrane protein (omp-2) (JPF/JPR). Some modifications on the reported techniques were applied during the present work to improve the outcome. The results showed that the B4/B5 primer pair had the highest sensitivity for detection of positive samples (98%), the JPF/JPR primer pair detected 88.4% of positive samples, whereas F4/R2 primer pair was the least sensitive, being able to detect only 53.1% of positive samples. The specificity of the 3 techniques was 100%. The B4/B5 primer pair was also able to detect the smallest number of bacteria (700 cfu/mL), whereas JPF/JPR was able to detect 7 × 105 cfu/mL and F4/R2 was able to detect 7 × 107cfu/mL. It is thus concluded that using the B4/B5 primer PCR with the suggested modifications is a robust assay, which meets the sensitivity requirements to be used for testing of human blood samples for brucellosis in the diagnostic laboratory.

scholarly journals Plasmodium spp. and Haemoproteus spp. infection in birds of the Brazilian Atlantic Forest detected by microscopy and polymerase chain reaction

2015 ◽  
Vol 35 (1) ◽  
pp. 67-74 ◽  
Author(s):  
Raquel Tostes ◽  
Usha Vashist ◽  
Kézia K.G. Scopel ◽  
Carlos L. Massard ◽  
Erik Daemon ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Atlantic Forest ◽  
Population Decline ◽  
Wild Birds ◽  
Southeastern Brazil ◽  
Chain Reaction ◽  
Blood Smears ◽  
In Captivity ◽  
The Mean ◽  
Polymerase Chain

In recent years haemosporidian infection by protozoa of the genus Plasmodium and Haemoproteus, has been considered one of the most important factors related to the extinction and/or population decline of several species of birds worldwide. In Brazil, despite the large avian biodiversity, few studies have been designed to detect this infection, especially among wild birds in captivity. Thus, the objective of this study was to analyze the prevalence of Plasmodium spp. and Haemoproteus spp. infection in wild birds in captivity in the Atlantic Forest of southeastern Brazil using microscopy and the polymerase chain reaction. Blood samples of 119 different species of birds kept in captivity at IBAMA during the period of July 2011 to July 2012 were collected. The parasite density was determined based only on readings of blood smears by light microscopy. The mean prevalence of Plasmodium spp. and Haemoproteus spp. infection obtained through the microscopic examination of blood smears and PCR were similar (83.19% and 81.3%, respectively), with Caracara plancus and Saltator similis being the most parasitized. The mean parasitemia determined by the microscopic counting of evolutionary forms of Plasmodium spp. and Haemoproteus spp. was 1.51%. The results obtained from this study reinforce the importance of the handling of captive birds, especially when they will be reintroduced into the wild.

scholarly journals The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson's disease

2001 ◽  
Vol 59 (3B) ◽  
pp. 722-724 ◽  
Author(s):  
Hélio A.G. Teive ◽  
Salmo Raskin ◽  
Fábio M. Iwamoto ◽  
Francisco M.B. Germiniani ◽  
Maria H.H. Baran ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Polymerase Chain Reaction ◽  
Parkinson's Disease ◽  
Family History ◽  
Restriction Enzyme ◽  
Alpha Synuclein ◽  
Chain Reaction ◽  
The Mean ◽  
Polymerase Chain ◽  
Mutation Assay

A missense G209A mutation of the alpha-synuclein gene was recently described in a large Contursi kindred with Parkinson's disease (PD). The objective of this study is to determine if the mutation G209A of the alpha-synuclein gene was present in 10 Brazilian families with PD. PD patients were recruited from movement disorders clinics of Brazil. A family history with two or more affected in relatives was the inclusion criterion for this study. The alpha-synuclein G209A mutation assay was made using polymerase chain reaction and the restriction enzyme Tsp45I. Ten patients from 10 unrelated families were studied. The mean age of PD onset was 42.7 years old. We did not find the G209A mutation in our 10 families with PD. Our results suggest that alpha-synuclein mutation G209A is uncommon in Brazilian PD families.

Molecular tracking of pathogens in central venous catheter

2020 ◽  
pp. 112972982093435
Author(s):  
Maristela Oliveira Lara ◽  
Thabata Coaglio Lucas ◽  
Evanguedes kalapothakis ◽  
Ronaldo Luis Thomasini ◽  
Carla Jorge Machado
Keyword(s):  
Polymerase Chain Reaction ◽  
Central Venous Catheter ◽  
Venous Catheter ◽  
Central Venous ◽  
Chain Reaction ◽  
Microbiological Methods ◽  
Catheter Tip ◽  
The Mean ◽  
Polymerase Chain ◽  
Molecular Tracking

Background: Central venous catheter–related bloodstream infection is an important adverse event in health care. Molecular methods are not yet substitutive of microbiological in the detection of the pathogens responsible for the infection, but they can help in the epidemiological characterization. Aim: To detect bacteria by polymerase chain reaction, from material extracted from the tip of central catheters of patients suspected of infection at the intensive care unit. Methods: Catheters (n = 34) of patients suspected of central venous catheter–related infection were analyzed by polymerase chain reaction. The findings were compared with culture of catheter tip and blood cultures performed by the hospital. Findings: The prevalence of bacteria was Staphylococcus aureus (50%), Enterococcus faecalis (41.2%), Klebsiella pneumoniae (32.4), Pseudomonas aeruginosa (20.6%), Acinetobacter baumannii (38.2%), Escherichia coli (2.9%), and Enterobacter cloacae (0%). No blood culture showed bacterial growth, the culture of catheter tip revealed bacteria in 21 (61.8%) and the polymerase chain reaction had positivity in 31 (91.2%) of the catheters. The mean central venous catheter time was 11 days, and the jugular vein was the site of insertion. Conclusion: The molecular method identified more bacteria than microbiological methods and revealed colonization of the catheters. The most commonly found bacteria are in the environment and in the microbiota of the skin, which suggests contamination by the hands of health professionals and points out the need for more efforts in preventive strategies.

scholarly journals NR3C1 polymorphisms in Brazilians of Caucasian, African, and Asian ancestry: glucocorticoid sensitivity and genotype association

2014 ◽  
Vol 58 (1) ◽  
pp. 53-61 ◽  
Author(s):  
Manoel Carlos L. A. Souza ◽  
Clarissa S. Martins ◽  
Ivan M. Silva Junior ◽  
Rosangela S. Chriguer ◽  
Ana C. Bueno ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Cell Proliferation ◽  
Healthy Population ◽  
Chain Reaction ◽  
Allelic Discrimination ◽  
Asian Ancestry ◽  
Hardy Weinberg Equilibrium ◽  
The Mean ◽  
Polymerase Chain ◽  
Pituitary Adrenal Axis

Objective : The Brazilian population has heterogeneous ethnicity. No previous study evaluated NR3C1 polymorphisms in a Brazilian healthy population. Materials and methods : We assessed NR3C1 polymorphisms in Brazilians of Caucasian, African and Asian ancestry (n = 380). In a subgroup (n = 40), we compared the genotypes to glucocorticoid (GC) sensitivity, which was previously evaluated by plasma (PF) and salivary (SF) cortisol after dexamethasone (DEX) suppression tests, GC receptor binding affinity (K d ), and DEX-50% inhibition (IC 50 ) of concanavalin-A-stimulated mononuclear cell proliferation. p.N363S (rs6195), p.ER22/23EK (rs6189-6190), and BclI (rs41423247) allelic discrimination was performed by Real-Time PCR (Polymerase Chain Reaction). Exons 3 to 9 and exon/intron boundaries were amplified by PCR and sequenced. Results : Genotypic frequencies (%) were: rs6195 (n = 380; AA:96.6/AG:3.14/GG:0.26), rs6189-6190 (n = 264; GG:99.6/GA:0.4), rs41423247 (n = 264; CC:57.9/CG:34.1/GG:8.0), rs6188 (n = 155; GG:69.6/GT:25.7/TT:4.7), rs258751 (n = 150; CC:88.0/CT:10.7/TT:1.3), rs6196 (n = 176; TT:77.2/TC:20.4/CC:2.4), rs67300719 (n = 137; CC:99.3/CT:0.7), and rs72542757 (n = 137; CC:99.3/CG:0.7). The rs67300719 and rs72542757 were found only in Asian descendants, in whom p.N363S and p.ER22/23EK were absent. The p.ER22/23EK was observed exclusively in Caucasian descendants. Hardy-Weinberg equilibrium was observed, except in the Asian for rs6188 and rs258751, and in the African for p.N363S. The K d , IC 50 , baseline and after DEX PF or SF did not differ between genotype groups. However, the mean DEX dose that suppressed PF or SF differed among the BclI genotypes (P = 0.03). DEX dose was higher in GG- (0.7 ± 0.2 mg) compared to GC- (0.47 ± 0.2 mg) and CC-carriers (0.47 ± 0.1 mg). Conclusion : The genotypic frequencies of NR3C1 polymorphisms in Brazilians are similar to worldwide populations. Additionally, the BclI polymorphism was associated with altered pituitary-adrenal axis GC sensitivity.

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