scholarly journals ALLELIC POLYMORPHISMS OF DNA REPAIR GENES AND THEIR INFLUENCE ON THE FORMATION OF RESISTANCE TO THE DEVELOPMENT OF BRONCHOPULMONARY PATHOLOGY UNDER THE ACTION OF INDUSTRIAL AEROSOLS

2019 ◽  
Vol 72 (5) ◽  
pp. 784-789
Author(s):  
Tetyana A. Andrushchenko ◽  
Sergiy V. Goncharov ◽  
Victor E. Dosenko ◽  
Konstantin E. Ishhejkin
Keyword(s):  
Polymerase Chain Reaction ◽  
Dna Repair ◽  
Respiratory System ◽  
Preventive Measures ◽  
Dna Repair Genes ◽  
Chain Reaction ◽  
Asbestos Cement ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Repair Genes

Introduction: The frequency of alleles and genotypes of DNA repair genes in people working due to the influence of industrial aerosols (miners and workers of asbestos-cement plants (n = 215)) was studied. The aim of the work was to identify allelic polymorphisms affecting the formation of resistance or leading to an increased risk of developing bronchopulmonary pathology. Materials and methods: In 90 patients with bronchopulmonary pathology and 125 persons working under the same conditions but without respiratory system diseases, the polymerase chain reaction in real time was determined by the polymorphisms of DNA repair genes: XPD (rs13181, rs799793), ERCC1 (rs11615), XRCC1 ( rs25487) and XRCC3 (rs861539), ATM (rs664677), XRCC7 (rs7003908) and MLH1 (rs1799977). Results: In the course of this study the alleles and genotypes contributing to resistance to the development of respiratory system pathologies were determined: XRCC1•G/A (rs25487) (OR=0.57; 95% CI: 0.32-1.02; P≤0.040; χ²=4.14); MLH1•A (rs1799977) (OR=0.62; 95% CI: 0.40-0.96; P≤0.020; χ²=5.06); MLH1•A/A (rs1799977) (OR=0.43; 95% CI: 0.24-0.79; P≤0.003; χ²=8.73). Also, we established the alleles and genotypes associated with the risk of developing bronchopulmonary pathology: XPD•C/C (rs13181) (OR=2.20, 95% CI: 1.02-4.77; P≤0.020; χ²=4.85); XRCC1•A/A (rs25487) (OR=3.37; 95 % CI: 1.22-9.63; P≤0.008; χ²=6.94); ATM•T/T (rs664677) (OR=2.48; 95% CI: 1.16-5.31; Р≤0.010; χ²=6.61); MLH1•G (rs1799977) (OR=1.61; 95% CI: 1.04-2.49; P≤0.020; χ²=5.06); MLH1•A/G (rs1799977) (OR=2.32; 95% CI: 1.29-4.21; P≤0.002; χ²=9.01). Conclusions: The results indicate the influence of allelic polymorphisms of DNA repair genes on the formation of resistance to the development of bronchopulmonary pathology under the action of industrial aerosols and open up prospects for the development of modern preventive measures.

Expression of DNA repair genes in oral squamous cell carcinoma using reverse transcription-quantitative polymerase chain reaction

2020 ◽  
Vol 130 (3) ◽  
pp. 298-305
Author(s):  
Mônica Ghislaine Oliveira Alves ◽  
Natália da Silva Miguel ◽  
Camila Cristina Panisello Ferreira ◽  
Elis Ribeiro Alvarenga ◽  
Bruna Manzanares Tonon ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Squamous Cell Carcinoma ◽  
Dna Repair ◽  
Oral Squamous Cell Carcinoma ◽  
Reverse Transcription ◽  
Quantitative Polymerase Chain Reaction ◽  
Dna Repair Genes ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Repair Genes

scholarly journals Polymorphism of DNA repair genes in bronchopulmonary pathology in workers of harmful and dangerous industries

2018 ◽  
Vol 81 (1) ◽  
pp. 49-56
Author(s):  
T.A. Andruschenko ◽  
S.V. Honcharov ◽  
L.V. Dolinchuk ◽  
V.Ye. Dosenko
Keyword(s):  
Dna Repair ◽  
Molecular Genetic ◽  
Dna Repair Genes ◽  
Risk Markers ◽  
Individual Sensitivity ◽  
Asbestos Cement ◽  
Polymerase Chain ◽  
The Individual ◽  
Mutagenic Effects ◽  
Repair Genes

Introduction. Polymorphism of DNA repair genes is actively studied in the formation of the individual sensitivity of the genome to damaging mutagenic effects. Objective of the work. To study the distribution of frequencies of alleles and genotypes of DNA repair genes: XPD (rs13181, rs799793) and ERCC1 (rs11615) in workers of asbestos-cement plants and miners to identify risk markers for bronchopulmonary pathology. Material and methods. The study included workers of asbestos-cement plants and miners (n=214). Real-time polymerase chain reaction was used to determine genotypes of XPD (rs13181, rs799793) and ERCC1 (rs11615) genes. Results. The study determined alleles and genotypes associated with the risk of developing bronchopulmonary pathology: - in the population of workers of asbestos-cement plants: XPD*Asn/Asn (rs799793), (p<0.01; χ2=6.62; OR=2,20; 95 %CI: 1,75–2,77); - in the population of miners: XPD*C (rs13181), (p<0.02; χ2=4,99; OR=1,88; 95 %CI: 1,04–3,40); XPD*CC (rs13181), (p<0,003; χ2=8.61; OR=4,29; 95 %CI: 1,41–13,37). The study also detected allele XPD*A (rs13181), which in the population of miners proved to be a marker of resistance to bronchopulmonary pathology (p<0,02; χ2=4.99; OR=0,53; 95 %CI: 0,29–0,96). Conclusions. The study has identified alleles and genotypes associated with the risk of developing bronchopulmonary pathology in the population of workers in harmful and dangerous production facilities of Ukraine. The study has determined the genotype and allele that can be used as biomarkers of resistance to the pathology of the respiratory system. Key words: molecular-genetic markers, XPD and ERCC1, bronchopulmonary pathology.

Molecular genetic analysis of the polymorphism of repair genes of double-strand breaks DNA strand breaks and repair «inconsistencies» DNA in workers of hazardous industries

2019 ◽  
Vol 1 (7) ◽  
pp. 395-399
Author(s):  
Тatyana A. Andrushchenko ◽  
Sergey V. Goncharov ◽  
Viktor Е. Dosenko ◽  
Konstantin E. Ischeikin
Keyword(s):  
Dna Repair ◽  
Respiratory System ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Double Strand Breaks ◽  
Dna Repair Genes ◽  
Dna Breaks ◽  
Strand Breaks ◽  
Increased Risk ◽  
Repair Genes

Introduction. Presents results of a study of polymorphisms of repair genes of double-strand breaks DNA breaks: XRCC7 (rs7003908), ATM (rs664677), repair «inconsistencies» DNA MLH1 (rs1799977) in miners and workers of asbestos factories professionally due to broncho-pulmonary pathology. T e aim of the study was to research the frequency distribution of genotypes of DNA repair genes: XRCC7 (rs7003908), ATM (rs664677) and MLH1 (rs1799977) in workers of harmful and dangerous industries to identify markers of increased risk of bronchopulmonary pathology. Materials and methods. In 90 people with bronchopulmonary pathology and 124 respondents who worked in the same working conditions but had no history of diseases of the respiratory system, polymerase chain reaction in real time studied the polymorphism of DNA repair genes: XRCC7 (rs7003908), ATM (rs664677) and MLH1 (rs1799977). Results. It was found that the genotypes ATM×T/T and MLH1×A/G are associated with the risk of bronchopulmonary pathology. Genotypes that contribute to resistance to the development of respiratory system pathology were also established: ATM×A/A, ATM× A/T and MLH1×A/A. Conclusion. Genotypes associated with the risk of bronchopulmonary pathology were established: ATM×T/T (р≤0.01, χ2=6.61; OR=2.48; 95%CI: 1.16–5.31) and MLH1×A/G (p≤0.002, χ2=9.00; OR=2.32; 95%CI: 1.29–4.21). Also determined the genotypes that contribute to resistance to the development of diseases of the respiratory system: ATM×a/A (OR=0,83; 95%CI: 0,45–1,54), ATM×A/T (OR=0,67; 95% CI: 0,38–1,21) and MLH1× a/A (р≤0,003, χ2=8,73; OR=0,43; 95% CI: 0,24–0,79).

scholarly journals Longest reported case of symptomatic COVID-19 reporting positive for over 230 days in an immunocompromised patient in the United States

2021 ◽  
Vol 9 ◽  
pp. 2050313X2110400
Author(s):  
Bilal Chaudhry ◽  
Lidiya Didenko ◽  
Maaria Chaudhry ◽  
Andrew Malek ◽  
Kirill Alekseyev
Keyword(s):  
Risk Factors ◽  
Polymerase Chain Reaction ◽  
Immunocompromised Patient ◽  
The United States ◽  
Immunocompromised Patients ◽  
Chain Reaction ◽  
Viral Shedding ◽  
Time Period ◽  
Increased Risk ◽  
Polymerase Chain

Coronavirus 2019 (COVID-19) pneumonia was first noted in Wuhan, China. Since the start of the pandemic, there have been millions of cases diagnosed. The average time from onset of symptoms to testing negative SARS-CoV-2 via reverse transcription polymerase chain reaction is roughly 25 days. In patients who continually test positive for COVID-19, it is essential to determine precisely which risk factors contribute to the increase in viral shedding duration. We present a case about a 62-year-old man who has persistently tested positive for COVID-19 for more than 230 days. We followed his treatment course, in which he had been hospitalized multiple times since the onset of symptoms back in April 2020. We have determined that patients with immunosuppression, especially those taking corticosteroids, are at increased risk of prolonged viral shedding. It is essential to continually monitor these immunocompromised patients as they required a greater time period in order to have an appropriate immune response in which antibodies are created.

Angiotensin-Converting Enzyme Polymorphism and the Risk of Coronary Heart Disease in the Saudi Male Population

2000 ◽  
Vol 124 (4) ◽  
pp. 531-534 ◽  
Author(s):  
Nduna Dzimiri ◽  
Chona Basco ◽  
Azadali Moorji ◽  
Brian F. Meyer
Keyword(s):  
Coronary Heart Disease ◽  
Polymerase Chain Reaction ◽  
Heart Disease ◽  
Saudi Population ◽  
Converting Enzyme ◽  
Chain Reaction ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Genotype Ii ◽  
Saudi Male

Abstract Objective.—To determine the relevance of angiotensin I–converting enzyme (ACE) gene polymorphism for coronary artery disease (CAD) in the Saudi population. Methods and Results.—DNA of 84 male Saudi patients with established CAD, 36 male controls who underwent angiography, and 327 healthy Saudi male blood donors was amplified by polymerase chain reaction, using oligonucleotide primers flanking the insertion (I)/deletion (D) sites in the polymorphic region of intron 16 of the ACE gene. Polymerase chain reaction amplification resulted in 490-bp (II), 190-bp (DD), or 490- and 190-bp (ID) fragments. The genotype II distribution was 16.7% in the control group, 7.3% in the blood donor group, and 7.2% in the patients with CAD, and the distribution for DD was 58.3%, 47.1%, and 41.0%, respectively. Notably, 61.9% (P &lt; .0001) of CAD patients presented with angina on admission, and 52.4% had diabetes mellitus. Conclusions.—The results show no increased risk of CAD in association with either the II or DD genotypes in the Saudi population. However, further investigation of genotype II as a predictor for atherosclerosis rather than increased risk of coronary heart disease may be indicated.

Increased Frequency of Polymorphisms in XRCC3 and OGG1 Genes in Patients with MDS.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 3445-3445
Author(s):  
Hadrian Szpurka ◽  
Abdo Haddad ◽  
Soumit Basu ◽  
Mikkael Sekeres ◽  
Jaroslaw P. Maciejewski
Keyword(s):  
Dna Repair ◽  
Genetic Factors ◽  
Dose Effect ◽  
Dna Repair Genes ◽  
Genetic Traits ◽  
Increased Risk ◽  
Disease Predisposition ◽  
Radiation Induced ◽  
Or Gene ◽  
Repair Genes

Abstract The effects of genetic factors on susceptibility to MDS are not well understood. The predisposition may be a result of complex genetic traits, various theories can explain how inherited genic sequence alterations could result in a higher susceptibility to this disease. In theory, genes involved in the metabolism of genotoxic chemicals, DNA repair genes and immunogenetic factors could all play a role. Possibly, the predisposition can be multifactorial and overall risk for MDS modified by acute or cumulative effects of environmental exposures. Alterations/variants of genes involved in MDS may result from mutations, which due to LOH or “gene dose effect” could lead to functional consequences. In addition SNPs, may be present in a variety of genes and by modifying their function result in a disease predisposition. For example, genes coding for enzymes involved in the metabolism or detoxification of cancirogens may show polymorphisms associated with low functional capacity. Based on previous reports, we have selected 4 genes for which specific SNPs have been implicated in increased risk of malignancies. Genes involved in DNA repair constitute rational targets of analysis in MDS as their dysfunction could explain increased frequency of chromosomal aberrations characteristic for this disease. For example, OGG1, XRCC1 and XRCC3 have been implicated in sensitivity to DNA damage following radiation and their variants may increase radiation-induced risk of malignancies. The NQO1 variant (involved in the protection of DNA from oxidative damage) was found to be associated with secondary AML (sAML). We have studied the frequency of homo- and heterozygous SNPs of these genes in MDS to determine whether they constitute genetic factors predisposing to MDS. Experimental cohort included 62 patients with MDS (35 RA/RS, 19 RAEB/t and 8 CMML). An allele specific Taqman PCR assay was designed to distinguish between SNPs in OGG1 (S326C), XRCC1 (R399Q), XRCC3 (T241M) and NQO1 (P187S). When XRCC3 was analyzed, C/T and T/T genotype was found in 75% of MDS patients (vs. 47% in controls; N=175; p&lt;.001). Interestingly, 3 out of 4 patients with sAML were homozygous for the T/T genotype. When patients with RCMD were separately analyzed, 8/10 patients showed at least one allele with XRCC1 G→A SNP (80% vs. 47% p&lt;.001). Based on historically established large cohorts of controls, we did not find an increased frequency of homo- or heterozygous variants of NQO1, XRCC1 or OGG1 in the MDS group as a whole. However, 9/12 (80%) patients with RAEB-2 showed at least one allele with C→G SNP (vs. 29% in controls, N=31). Interestingly, we have found 4 MDS (6%) patients homozygous for OGG1 variant (G/G) that has not been described in healthy controls. Three of these 4 patients had MDS/MPL overlap and one showed evolution to AML. In general, we did not find any correlation between the presence of the gene variants tested and evolution of karyotypic abnormalities. Although we have analyzed only 4 selected DNA repair genes in MDS, our findings suggest that genetically-determined decreased function of these genes may constitute a predisposition factor for the development of this disease. Increased frequency of XRCC3 C/T SNP and presence of patients homozygous for OGG1 G/G may represent examples of such susceptibility. More comprehensive analysis may reveal further polymorphisms that could alone or in context of other defects explain occurrence of MDS.

A Polymorphism Study on Detoxification and DNA Repair Genes in 700 MDS Patients Demonstrates An Association Between Genotype and An Aberrant Karyotype

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 2690-2690
Author(s):  
C. Seedhouse ◽  
Stephanie Fischer ◽  
Christina Ganster ◽  
Christa Fonatsch ◽  
Peter Valent ◽  
...  
Keyword(s):  
Dna Damage ◽  
Dna Repair ◽  
Genetic Stability ◽  
Genetic Instability ◽  
Dna Repair Genes ◽  
Repair Gene ◽  
Dna Repair Gene ◽  
Increased Risk ◽  
Xrcc3 Thr241met ◽  
Repair Genes

Abstract The maintenance of genetic stability within haematopoietic stem cells is essential for normal haematopoiesis and this is emphasised by the association of leukemias and myelodysplastic syndromes (MDS) with genetic instability. DNA is normally protected from damage via a number of complex pathways including detoxification and DNA repair pathways. Inefficient processing of DNA damage may result in an increased susceptibility to leukemia and MDS. Genetic polymorphisms exist in many genes within the DNA damage processing pathways, some of which affect the cells ability to maintain genetic stability. We have studied polymorphisms in the homologous DNA repair genes RAD51 (RAD51-g135c) and XRCC3 (XRCC3-Thr241Met) and the detoxification gene GSTM1 (deletion polymorphism) in more 700 MDS samples. The GSTM1 polymorphism was studied using PCR, and the RAD51 and XRCC3 genotypes were assayed simultaneously using a SNaPshot technique. The genotype distributions of RAD51-g135c and GSTM1 did not differ significantly from those reported in the literature. However the distribution of the XRCC3-Thr241Met polymorphism was found to be significantly different, with an over-representation of the variant Met allele, when compared to previously published frequencies in control populations1 (odds ratio (OR) 1.8; 95% confidence interval (CI) 1.3–2.6, p&lt;0.001). Whilst the presence of a single polymorphic variant may display only a subtle effect, polymorphic variants of more than one gene involved in the same pathway are likely to be biologically important with respect to the cellular ability to maintain genetic integrity and hence may play a role in MDS pathogenesis. RAD51, XRCC3 and GSTM1 genotypes were therefore studied in combined analyses. Similar to studies in AML1, the double DNA repair gene variant (RAD51–135c/XRCC3–241) was over-represented in MDS compared to a control population (OR 3.8; 95% CI 1.6–9.3, p=0.002). The triple variant genotype (RAD51–135c/XRCC3–241Met/GSTM1-null) was associated with a further increased risk of MDS (OR 13.5; 95% CI 1.8–102.8, p=0.01). More detailed analysis was undertaken to compare the polymorphic distributions in MDS with aberrant karyotypes. When the single genes were assessed, the GSTM1 null genotype was the only one to be over-represented in MDS with an aberrant karyotype compared to MDS with a normal karyotype (OR 1.6; 95% CI 1.05–2.5). Interestingly, when analysing the genotypes with respect to the XRCC3/RAD51 combined genotypes the presence of homozygous wild type alleles of one DNA repair gene matched with the presence of a variant allele of the other DNA repair gene is significantly protective against karyotypic abnormalities when compared to the double WT patients (OR 0.29; 95% CI 0.29–0.78; p=0.003). Collectively these results suggest that polymorphisms in genes which process DNA damage play a significant role in MDS pathogenesis and may also contribute to genetic instability in MDS.

scholarly journals Evaluation of ‘white-spotted kidneys’ associated with leptospirosis by polymerase chain reaction based LipL32 gene in slaughtered cows

2012 ◽  
Vol 83 (1) ◽  
Author(s):  
Shahrzad Azizi ◽  
Elahe Tajbakhsh ◽  
Mohammad R. Hajimirzaei ◽  
Mohssen Gholami Varnamkhast ◽  
Hossein Sadeghian ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Mononuclear Cells ◽  
Plasma Cells ◽  
Zoonotic Disease ◽  
Health Concern ◽  
Chain Reaction ◽  
White Spots ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Pcr Targeting

The presence of white spots in the kidneys of cattle at slaughter (so-called white-spotted kidneys) can be an indication of infection with Leptospira, a spirochaete of public health concern because it causes zoonotic disease. In this study, 24 kidneys of 180 slaughtered cows (13.3%) showed focal to multifocal white spots at inspection. These kidneys, together with matching urine (n = 18) and blood (n = 24) samples, were examined by polymerase chain reaction (PCR) targeting the LipL32 gene. Leptospiral deoxyribonucleic acid (DNA) was detected in 19 (79.2%) out of 24 kidneys, as well as 7 (29.2%) blood and 10 (55.5%) urine samples of cows with white spots in their kidneys. Histopathological findings revealed multifocal infiltration of mononuclear cells, including lymphocytes and a few plasma cells in the renal interstitial tissues. In addition, 14 apparently normal kidneys and associated urine and blood samples were similarly examined by PCR but did not provide any positive results. In this study, high detection of leptospirosis in kidneys with interstitial nephritis suggests that Leptospira spp. are associated with white spotted kidneys. The present findings indicate that white spotted kidneys can be due to leptospirosis in this region in southwestern Iran, which indicates an increased risk of zoonotic disease. The data show that LipL32-based primers are useful for PCR-based diagnosis of leptospirosis.

scholarly journals Circulating Neuroblastoma Cells Detected by Reverse Transcriptase Polymerase Chain Reaction for Tyrosine Hydroxylase mRNA Are an Independent Poor Prognostic Indicator in Stage 4 Neuroblastoma in Children Over 1 Year

2001 ◽  
Vol 19 (6) ◽  
pp. 1795-1801 ◽  
Author(s):  
Susan A. Burchill ◽  
Ian J. Lewis ◽  
Keith R. Abrams ◽  
Richard Riley ◽  
John Imeson ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Peripheral Blood ◽  
Neuroblastoma Cells ◽  
Rt Pcr ◽  
Chain Reaction ◽  
Increased Risk ◽  
Stage 4 ◽  
Polymerase Chain ◽  
Disease Free ◽  
Th Mrna

PURPOSE: In this prospective, multicenter study, the independent prognostic power of neuroblastoma cells detected by reverse transcriptase polymerase chain reaction (RT-PCR) for tyrosine hydroxylase (TH) mRNA was evaluated. PATIENTS AND METHODS: The clinical significance of disease detected by RT-PCR in peripheral blood from children at diagnosis was compared with established prognostic markers [ie, age, lactate dehydrogenase (LDH), neuron-specific enolase, ferritin, and MYCN gene amplification] by multivariate analysis. The value of disease detection by RT-PCR during treatment and follow-up was also examined. RESULTS: TH mRNA was detected in peripheral blood from 33 of 49 (67%) children with stage 4 neuroblastoma > 1 year old at diagnosis and was a significant predictive factor for overall survival [hazard ratio (HR) = 2.40, 95% confidence interval (CI) 1.19 to 4.84, P = .014) and event-free survival (HR = 2.09, 95% CI 1.06 to 4.17, P = .034) in a multivariate analysis. Detection of disease in blood from clinically disease-free children was related to increased risk of death (HR 2.54, 95% CI 1.42 to 4.55, P = .0014). CONCLUSION: TH mRNA in peripheral blood of children with neuroblastoma is a poor prognostic indictor, reflecting the propensity for dissemination via the bloodstream. When combined with a serum LDH > 1500 IU/L, this is the most powerful poor prognostic model at diagnosis for children > 1 year old with stage 4 disease. The detection of TH mRNA in peripheral blood from clinically disease-free children is related to increased risk of relapse and death.

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