scholarly journals MUTATION C3435T IN MULTI-DRUG RESISTANCE GENE MDR1 AS PHARMACOGENETIC MARKER OF SEVERE COURSE OF BRONCHIAL ASTHMA

2012 ◽  
Vol 9 (2) ◽  
pp. 9-12
Author(s):  
Z A Mironova ◽  
V I Trofimov ◽  
Е D Iantchina ◽  
A S Ulitina ◽  
М V Dubina
Keyword(s):  
Bronchial Asthma ◽  
Restriction Analysis ◽  
Mdr1 Gene ◽  
Multi Drug Resistance ◽  
Healthy Controls ◽  
Chain Reaction ◽  
Increased Risk ◽  
Polymerase Chain ◽  
First Time ◽  
Peripheral Blood Leucocytes

Background. Early detection and treatment of severe forms of bronchial asthma (BA) is one of serious problems in clinical practice. BA is a multifactorial disease, so its progression is a result of both environmental factors and genetic predisposition. Aim of the study. To determine frequencies of genetic variants resulted from the mutation C3435T (rs1045642) in MDR1 gene among patients with different BA severity and in healthy controls. Methods. The trial included 122 patients with different severity of BA course and 103 healthy controls. Genomic DNA was extracted from peripheral blood leucocytes by routine phenol-chloroform protocol. Allelic variants were determined by polymerase chain reaction with subsequent restriction analysis with MboI restriction endonuclease. Results. For the first time association of allelic variant 3435C of MDR1 gene with BA was revealed. Differences between MDR1 genotypes distributions persisted in case of stratification BA patients according their severity courses. Severity of BA course was found to be strongly associated with 3435C allele. Conclusion. Allele 3435C and genotype 3435CC of gene MDR1 are markers of increased risk of BA progression. In patients with BA these alleles are associated with unfavorable severe course of the disease. Genotype 3435TT of gene MDR1 is a protective marker associated with favorable and well-controlled BA course.

scholarly journals Association betweenTLR4andTLR9Gene Polymorphisms with Development of Pulmonary Tuberculosis in Zahedan, Southeastern Iran

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Danial Jahantigh ◽  
Saeedeh Salimi ◽  
Roya Alavi-Naini ◽  
Abolfazl Emamdadi ◽  
Hamid Owaysee Osquee ◽  
...  
Keyword(s):  
Genetic Factors ◽  
Fragment Length Polymorphism ◽  
Healthy Controls ◽  
Newly Diagnosed ◽  
Significant Relation ◽  
Chain Reaction ◽  
Endemic Region ◽  
Increased Risk ◽  
Increase Risk ◽  
Polymerase Chain

Some evidence suggests that a variety of genetic factors contribute to development of the tuberculosis (TB).TLR4andTLR9have been proposed as susceptibility genes for TB. This study was performed in 124 newly diagnosed TB cases and 149 healthy controls in a TB-endemic region of Iran. TheTLR4genes Asp299Gly, Thr399Ile, andTLR9gene T-1486C polymorphisms were amplified by polymerase chain reaction (PCR) and then detected by PCR-restriction fragment length polymorphism (RFLP). The frequencies of the mutant alleles ofTLR4Arg299Gly, Thr399Ile, andTLR9T-1486C polymorphisms were 0.8versus0.1, 5.6versus3, and 28.6versus25.2 in patients and controls, respectively, that were not significant. The synergic effect of TI,II/CC genotypes forTLR4Thr399Ile andTLR9T-1486C polymorphisms showed increased risk of PTB susceptibility. In conclusion, no significant relation was found betweenTLR4andTLR9polymorphisms alone and PTB. However, synergic effects ofTLR4Thr399Ile andTLR9-1486T/C polymorphisms might increase risk of PTB.

Association ofCx43rs2071166 polymorphism with an increased risk for atrial septal defect

2017 ◽  
Vol 28 (3) ◽  
pp. 397-402 ◽  
Author(s):  
Ruoyi Gu ◽  
Wei Sheng ◽  
Xiaojing Ma ◽  
Guoying Huang
Keyword(s):  
Confidence Interval ◽  
Atrial Septal Defect ◽  
Odds Ratio ◽  
Septal Defect ◽  
Healthy Controls ◽  
Nucleotide Polymorphism ◽  
Chain Reaction ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Polymerase Chain

AbstractAtrial septal defect is one of the most common CHD. The pathogenesis of atrial septal defect still remains unknown.Cx43is the most prevalent connexin in the mammalian heart during development. Its genetic variants can cause several CHD. The aim of our study was to investigate the association of genetic variations of theCx43with sporadic atrial septal defect. A total of 450 paediatric patients were recruited, including 150 cases with atrial septal defect and 300 healthy controls. The promoter region ofCx43was analysed by sequencing after polymerase chain reaction. All data were analysed by using the Statistic Package for Social Science 19.0 software. The frequency of the single nucleotide polymorphism rs2071166 was significantly higher in atrial septal defect cases than in healthy controls. The CC genotype at rs2071166 site inCx43was correlated with an increased risk for atrial septal defect (p<0.0001, odds ratio=3.891, 95% confidence interval 1.948–7.772) and the C allele was positively correlated with atrial septal defect (p=0.007, odds ratio=1.567, 95% confidence interval 1.129–2.175). In conclusion, our results confirmed that rs2071166 inCx43may be relevant with an increased atrial septal defect risk.

scholarly journals Correlations of PD-1/PD-L1 Gene Polymorphisms with Susceptibility and Prognosis in Non-Hodgkinʼs Lymphoma among Iranian Population

2020 ◽  
Keyword(s):  
Polymerase Chain Reaction ◽  
Gene Polymorphisms ◽  
Iranian Population ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Chain Reaction ◽  
Expression Levels ◽  
Messenger Ribonucleic Acid ◽  
Increased Risk ◽  
Polymerase Chain

Background: The activities of programmed cell death 1 (PD-1) and programmed death ligand-1 (PD-L1) have already been identified in various cancers. However, in non-Hodgkinʼs lymphoma (NHL), the prognostic value of PD-1/PD-L1 gene polymorphisms and expression levels remains unclear. Objectives: The present study aimed to investigate the relationship between the genetic polymorphisms of PD-1/PD-L1 genes and NHL in the Iranian population. Methods: Four single-nucleotide polymorphisms (SNPs) of PD-1/PD-L1 genes were examined in 134 NHL patients and 134 healthy controls using polymerase chain reaction-restriction fragment length polymorphism. The expression levels of PD-1/PD-L1 genes were analyzed using real-time polymerase chain reaction. Results: The obtained results of the current study demonstrated that PD-L1 rs2890685 (A>C) SNP (P<0.0001) was significantly associated with the increased risk of NHL. The AA genotype of PD-L1 rs2890685 polymorphism was observed to be more prevalent in the NHL patients, compared to that reported for the healthy controls. There was no significant association between PD-L1 rs4143815, PD-1 rs11568821, and PD-1rs2227981 SNPs with the risk of NHL. Furthermore, the obtained findings showed that the messenger ribonucleic acid transcription levels of both PD-1 and PD-L1 were significantly higher in the NHL patients than those reported for the healthy controls (P<0.001). Conclusions: According to the results of the current study, there was an association between functional PD-L1 rs2890685 polymorphism and risk of NHL, suggesting that the genetic variant of PD-L1 might be a possible prognostic marker for the prediction of the risk and development of NHL.

scholarly journals P-SELECTIN GLYCOPROTEIN LIGAND-1 GENE POLYMORPHISMS IN SUDANESE PREGNANT WOMEN WITH THROMBOSIS

2018 ◽  
Vol 11 (12) ◽  
pp. 226
Author(s):  
Abdelrahman A Elhassan ◽  
Fathelrahman Mahdi Hassan ◽  
Hanan B Eltahir
Keyword(s):  
Polymerase Chain Reaction ◽  
Pregnant Women ◽  
Gene Polymorphisms ◽  
Genomic Dna ◽  
Polymerase Chain Reaction Amplification ◽  
Healthy Controls ◽  
Chain Reaction ◽  
Increased Risk ◽  
Reaction Amplification ◽  
Polymerase Chain

Objectives: In this study we aimed to investigate whether P-selectin gene polymorphism is associated with thrombosis in Sudanese pregnant women in Khartoum state.Methods: After informed consent, 96 Sudanese pregnant women with thrombosis and 53 healthy pregnant women were recruited in the study. Genomic DNA was isolated from whole blood. Genotyping of PSGL-1 gene was performed by polymerase chain reaction amplification for exon 14 and electrophoresis.Results: The frequency of the B allele was found to be significantly higher in pregnant women with thrombosis (26%) compared to the controls (17.4%).Conclusion: The AB genotype was found to be higher in women with thrombosis 40.6% than in healthy controls 20% (p=0.02). Our results suggest that the PSGL-1 AB genotype is associated with an increased risk of thrombosis in Sudanese pregnant women.

Detection of the Glanzmann's Thrombasthenia Mutations in Arab and Iraqi-Jewish Patients by Polymerase Chain Reaction and Restriction Analysis of Blood or Urine Samples

1991 ◽  
Vol 66 (04) ◽  
pp. 500-504 ◽  
Author(s):  
H Peretz ◽  
U Seligsohn ◽  
E Zwang ◽  
B S Coller ◽  
P J Newman
Keyword(s):  
Polymerase Chain Reaction ◽  
Base Pair ◽  
Restriction Analysis ◽  
Urine Samples ◽  
Chain Reaction ◽  
Base Pairs ◽  
Glanzmann’S Thrombasthenia ◽  
Glanzmann's Thrombasthenia ◽  
Base Pair Deletion ◽  
Polymerase Chain

SummarySevere Glanzmann's thrombasthenia is relatively frequent in Iraqi-Jews and Arabs residing in Israel. We have recently described the mutations responsible for the disease in Iraqi-Jews – an 11 base pair deletion in exon 12 of the glycoprotein IIIa gene, and in Arabs – a 13 base pair deletion at the AG acceptor splice site of exon 4 on the glycoprotein IIb gene. In this communication we show that the Iraqi-Jewish mutation can be identified directly by polymerase chain reaction and gel electrophoresis. With specially designed oligonucleotide primers encompassing the mutation site, an 80 base pair segment amplified in healthy controls was clearly distinguished from the 69 base pair segment produced in patients. Patients from 11 unrelated Iraqi-Jewish families had the same mutation. The Arab mutation was identified by first amplifying a DNA segment consisting of 312 base pairs in controls and of 299 base pairs in patients, and then digestion by a restriction enzyme Stu-1, which recognizes a site that is absent in the mutant gene. In controls the 312 bp segment was digested into 235 and 77 bp fragments, while in patients there was no change in the size of the amplified 299 bp segment. The mutation was found in patients from 3 out of 5 unrelated Arab families. Both Iraqi-Jewish and Arab mutations were detectable in DNA extracted from blood and urine samples. The described simple methods of identifying the mutations should be useful for detection of the numerous potential carriers among the affected kindreds and for prenatal diagnosis using DNA extracted from chorionic villi samples.

scholarly journals AB0691 ANALYSIS OF SARS-COV-2 ANTIBODIES IN NON-COVID-19 PATIENTS: COMPARISON BETWEEN SYSTEMIC SCLEROSIS PATIENTS AND HEALTHY CONTROLS

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1379.1-1379
Author(s):  
L. Giardullo ◽  
C. Rotondo ◽  
A. Corrado ◽  
N. Maruotti ◽  
R. Colia ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Systemic Sclerosis ◽  
Autoimmune Disease ◽  
Reverse Transcriptase ◽  
Real Time ◽  
Polymerase Chain Reaction Assay ◽  
Nuclear Antigen ◽  
Healthy Controls ◽  
Chain Reaction ◽  
Polymerase Chain

Background:Previous study evidenced a cross-reactivity between Sars-Cov-2 antibodies and autoimmune tissue antigen involved in connective tissue diseases, as nuclear antigen (NA), extractable nuclear antigen (ENA), histone and collagen (1). No study has been published about the titer of Sars-Cov-2 antibodies in non-infected patients with autoimmune disease.Objectives:To evaluate the titer of SARS-CoV-2 antibodies in non-COVID-19 patients and compare it between systemic sclerosis (SSc) patients and healthy controls (HC).Methods:A total of 58 patients with SSc (who fulfilled ACR/EULAR 2013 SSc classification criteria) and 18 HC were enrolled. Sera of all participants were collected, and SARS-CoV-2 antibodies (IgG and IgM) were evaluated by means ELISA. In all participants swabs for SARS-CoV-2 by real-time reverse-transcriptase-polymerase-chain-reaction assay were reported negative. Demographic, clinical, and autoimmune serological characteristics of SSc patients were recorded. The normal distribution was assessed using the Shapiro–Wilk’s test. Exclusion criteria was previous or actual Sars-Cov-2 infection. Comparisons between study groups of patients were evaluated by the Student’s t-test or Mann – Whitney U-test as appropriate. The differences between categorial variables were assessed by Pearson chi-square or Fisher’s exact test, as opportune. Statistical significance was set at p ≤ 0.05.Results:We observed significant differences between SSc patients and HC in serum levels of Sars-Cov-2 antibodies (IgG: 1,4±2,1 AU/ml vs 0,36±0,19 AU/ml respectively (p=0,001); and IgM: 2,5±3,1 AU/ml vs 0,8±0,7 AU/ml (p=0,022)). In 5 SSc patients was found titer of Sars-Cov-2 antibodies (IgG) exceeding the cut-off, but the control of swabs for SARS-CoV-2 by real-time reverse-transcriptase-polymerase-chain-reaction assay were negative. No significative differences in Sars-Cov-2 autoantibodies titer were found in subgroup of SSc patients with or without ILD or PAH, limited or diffuse skin subset, and different autoantibodies profile. Furthermore, antibodies titer was not associated with different drugs (steroid, methotrexate, mofetil-mycophenolate and bosentan) in use.Conclusion:A cross mimicking between Sars-Cov-2 antibodies and antinuclear antibodies or anti ENA could be hypothesized. Further studies are necessary to unravel the reliability of Sars-Cov-2 antibodies detection in autoimmune disease.References:[1]Vojdani, A., Vojdani, E., & Kharrazian, D. (2021). Reaction of human monoclonal antibodies to SARS-CoV-2 proteins with tissue antigens: Implications for autoimmune diseases. Frontiers in Immunology, 11, 3679Disclosure of Interests:None declared

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.

scholarly journals Cytokine-Facilitated Transduction Leads to Low-Level Engraftment in Nonablated Hosts

Blood ◽  
1997 ◽  
Vol 90 (2) ◽  
pp. 865-872 ◽  
Author(s):  
Ellen L.W. Kittler ◽  
Stefan O. Peters ◽  
Rowena B. Crittenden ◽  
Michelle E. Debatis ◽  
Hayley S. Ramshaw ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Polymerase Chain Reaction ◽  
Bone Marrow Cells ◽  
Mdr1 Gene ◽  
Rt Pcr ◽  
Chain Reaction ◽  
Donor Cells ◽  
Polymerase Chain ◽  
Marrow Cells

Using a murine bone marrow transplantation model, we evaluated the long-term engraftment of retrovirally transduced bone marrow cells in nonmyeloablated hosts. Male bone marrow was stimulated in a cocktail of interleukin-3 (IL-3), IL-6, IL-11, and stem cell factor (SCF ) for 48 hours, then cocultured on the retroviral producer line MDR18.1 for an additional 24 hours. Functional transduction of hematopoietic progenitors was detected in vitro by reverse transcriptase-polymerase chain reaction (RT-PCR) amplification of multiple drug resistance 1 (MDR1) mRNA from high proliferative potential-colony forming cell (HPP-CFC) colonies. After retroviral transduction, male bone marrow cells were injected into nonablated female mice. Transplant recipients received three TAXOL (Bristol-Myers, Princeton, NJ) injections (10 mg/kg) over a 14-month period. Transplant recipient tissues were analyzed by Southern blot and fluorescence in situ hybridization for Y-chromosome–specific sequences and showed donor cell engraftment of approximately 9%. However, polymerase chain reaction amplification of DNAs from bone marrow, spleen, and peripheral blood showed no evidence of the transduced MDR1 gene. RT-PCR analysis of total bone marrow RNA showed that transcripts from the MDR1 gene were present in a fraction of the engrafted donor cells. These data show functional transfer of the MDR1 gene into nonmyeloablated murine hosts. However, the high rates of in vitro transduction into HPP-CFC, coupled with the low in vivo engraftment rate of donor cells containing the MDR1 gene, suggest that the majority of stem cells that incorporated the retroviral construct did not stably engraft in the host. Based on additional studies that indicate that ex vivo culture of bone marrow induces an engraftment defect concomitantly with progression of cells through S phase, we propose that the cell cycle transit required for proviral integration reduces or impairs the ability of transduced cells to stably engraft.

scholarly journals Detection of Toxoplasma gondii in a free-ranging giant anteater

2017 ◽  
Vol 47 (8) ◽  
Author(s):  
Thais Oliveira Morgado ◽  
Francielle Cristina Kagueyama ◽  
Janaina Marcela Assunção Rosa ◽  
Melissa Debesa Belizário ◽  
Richard de Campos Pacheco ◽  
...  
Keyword(s):  
Toxoplasma Gondii ◽  
Agglutination Test ◽  
Zoonotic Infection ◽  
Chronic Infections ◽  
Chain Reaction ◽  
Positive Serology ◽  
Modified Agglutination Test ◽  
Polymerase Chain ◽  
Free Ranging ◽  
First Time

ABSTRACT: Toxoplasmosis is caused by Toxoplasma gondii, an obligatory intracellular protozoan, which establishes acute and chronic infections in birds and mammals, including humans. This note reports, for the first time, the detection and sequencing of DNA from T. gondii in the peripheral blood of a young free range giant anteater (Myrmecophaga tridactyla). For the diagnosis, the following methods were used: polymerase chain reaction (PCR) and positive serology (1:800) by means of the modified agglutination test (MAT). Since this species may be consumed by humans and predated by wild felids, its importance is emphasized as a probable source of zoonotic infection, in addition to its possible participation in the infection enzootic cycle. Although, parasitemia has been confirmed in this specimen, it presented no clinical sign of infection.

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