scholarly journals Evaluation of the ERCC2 (Lys751Gln), MSH2 (gIVS12-6TC), RAD54 (Ala730Ala), XPC (Lys939Gln), XPG (Asp1104Hist), XRCC1 (Arg399Gln) and XRCC3 (Thr241Met) gene polymorphisms in the Ecuadorian population with retinoblastoma

2019 ◽  
Author(s):  
Paola E. Leone ◽  
Patricia Guevara-Ramírez ◽  
Silvana Quevedo ◽  
Sonia Zumárraga ◽  
Isaac Armendáriz-Castillo ◽  
...  
Keyword(s):  
Genetic Predisposition ◽  
Significant Risk ◽  
Repair System ◽  
Sequencing Analysis ◽  
Rb1 Gene ◽  
Xrcc1 Arg399gln ◽  
Homozygous Genotype ◽  
Xrcc3 Thr241met ◽  
Arg399gln Polymorphism ◽  
Polymerase Chain

Abstract Background Retinoblastoma is a neoplasia that starts in the retina and may have inheritable or sporadic genetic predisposition. This affects children, mainly those who are under 5 years old. Approximately 9,000 new cases are diagnosed per year worldwide. In Ecuador this disease has an incidence of 1 per each 20,000 live births. The genetic predisposition to develop retinoblastoma is strongly influenced by RB1 gene, and may be influenced by the presence of genetic polymorphisms which intervene in the DNA repair system. Methods This study has analyzed the genotype frequency of ERCC2 (Lys751Gln), MSH2 (gIVS12-6TC), RAD54 (Ala730Ala), XPC (Lys939Gln), XPG (Asp1104Hist), XRCC1 (Arg399Gln), and XRCC3 (Thr241Met) polymorphisms of different repair genes, genotyping 90 individuals affected with retinoblastoma and 80 healthy individuals through polymerase chain reaction / restriction fragments length polymorphism and sequencing analysis. Results The presence of the (C/C) mutant homozygous genotype of XPC (Lys939Gln) polymorphism triggers a significant risk of developing retinoblastoma with an odds ratio (OR) of 3 (CI: 1.22-9.84; p < 0.05). Likewise, the A/G heterozygous genotype and the combination A/G+G/G of XRCC1 (Arg399Gln) polymorphism presented ORs of 9.7 (CI: 4.45-21.08; p < 0.001) and 7.55 (IC: 3.57-16; p < 0.001), respectively. Conclusions The genetic variants XPC (Lys939Gln) and XRCC1 (Arg399Gln) may be associated with the risk of developing retinoblastoma in the Ecuadorian population.

scholarly journals Spontaneous Retroperitoneal Hematoma in COVID-19 Severe Pneumonia–Dual-phase Multidetector Computed Tomography (MDCT) Angiogram and Role of Radiologist

2021 ◽  
Author(s):  
Vikash Kumar Gupta ◽  
Buthaina Mohammad Alkandari ◽  
Wasif Mohammed ◽  
Mohsen Ahmed Abdelmohsen ◽  
Mohammad Gaber Abdullah Mohammad
Keyword(s):  
Significant Risk ◽  
Severe Pneumonia ◽  
Retroperitoneal Hematoma ◽  
Low Molecular Weight ◽  
Rt Pcr ◽  
Prophylactic Dose ◽  
Therapeutic Anticoagulation ◽  
Coagulation Tests ◽  
Polymerase Chain

AbstractStudies available in the literature have shown alterations in blood coagulation tests in severe cases of COVID-19 pneumonia, with a significant risk of venous thromboembolism (VTE). Since microvascular thrombosis is a well-known fact in COVID-19 disease, requiring therapeutic anticoagulation, low-molecular weight heparin (LMWH) in prophylactic dose is a part of the clinical management of hospitalized COVID-19 patients. In this scenario, we describe three cases of abdominal spontaneous retroperitoneal hematoma (SRH) in hospitalized reverse transcriptase-polymerase chain reaction (RT-PCR)-confirmed COVID-19 patients.

scholarly journals Biotinylation of Deoxyguanosine at the Abasic Site in Double-Stranded Oligodeoxynucleotides

2016 ◽  
Vol 2016 ◽  
pp. 1-4
Author(s):  
Chun Wu
Keyword(s):  
Dna Polymerase ◽  
Click Reaction ◽  
Terminal Deoxynucleotidyl Transferase ◽  
Sequencing Analysis ◽  
Abasic Site ◽  
Nylon Membrane ◽  
Abasic Sites ◽  
Polymerase Chain ◽  
Dna Sequencing Analysis ◽  
Endonuclease Digestion

Biotinylation of deoxyguanosine at an abasic site in double-stranded oligodeoxynucleotides was studied. The biotinylation of deoxyguanosine is achieved by copper-catalyzed click reaction after the conjugation of the oligodeoxynucleotide with 2-oxohex-5-ynal. The biotinylation enables visualization of the biotinylated oligodeoxynucleotides by chemiluminescence on a nylon membrane. In order to investigate the biotinylated site, the biotinylated oligodeoxynucleotides were amplified by the DNA polymerase chain reaction. Replacement of guanine opposing the abasic site with adenine generated by the activity of the terminal deoxynucleotidyl transferase of DNA polymerase was detected by DNA sequencing analysis and restriction endonuclease digestion. This study suggests that 2-oxohex-5-ynal may be useful for the detection of the unpaired deoxyguanosine endogenously generated at abasic sites in genomic DNA.

Direct sequencing analysis of transmembrane region of human neu gene by polymerase chain reaction

2006 ◽  
Vol 3 (4) ◽  
pp. 198-201 ◽  
Author(s):  
Hideyuki Saya ◽  
Seiji Ara ◽  
Polly S. Y. Lee ◽  
Jungsil Ro ◽  
Mien-Chie Hung
Keyword(s):  
Polymerase Chain Reaction ◽  
Direct Sequencing ◽  
Sequencing Analysis ◽  
Transmembrane Region ◽  
Chain Reaction ◽  
Polymerase Chain

scholarly journals Meta-Analysis of the Relationship between XRCC1-Arg399Gln and Arg280His Polymorphisms and the Risk of Prostate Cancer

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Jie Yan ◽  
Xiantao Wang ◽  
Hui Tao ◽  
Zengfu Deng ◽  
Wang Yang ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Cancer Risk ◽  
Meta Analysis ◽  
Prostate Cancer Risk ◽  
Recessive Model ◽  
Dominant Model ◽  
Xrcc1 Arg399gln ◽  
Increased Risk ◽  
Arg399gln Polymorphism ◽  
The Relationship

Abstract Prostate cancer is one of the most common noncutaneous malignancies in Western countries. Because there has been a debate regarding the relationship between the XRCC1-Arg399Gln and Arg280His polymorphisms and prostate cancer risk, we therefore performed this meta-analysis. The electronic databases PubMed, EMBASE and Medline were searched prior to October 1, 2014. An odds ratio and 95% confidence interval were used to calculate association. Heterogeneity was tested by both a chi-square test and I2statistic. Funnel plots and Egger’s test were used to assess publication bias. All statistical analyses were performed using STATA 12.0 software. A significant association between the XRCC1-Arg399Gln polymorphism and prostate cancer risk was found under a homozygote model and a recessive model. A significant association between XRCC1-Arg280His and prostate cancer risk was found under a heterozygote model and a dominant model. Overall, the results of this meta-analysis show that the XRCC1-Arg399Gln polymorphism may be associated with an increased risk for prostate cancer under the homozygote model and the recessive model. And XRCC1-Arg280His polymorphism is likely to be related with prostate cancer risk under the heterozygote model and the dominant model. Additional larger well-designed studies are needed to validate our results.

Association of XRCC1 Arg399Gln polymorphism with bladder cancer susceptibility: A meta-analysis

Gene ◽  
2014 ◽  
Vol 534 (1) ◽  
pp. 17-23 ◽  
Author(s):  
Dengfeng Yang ◽  
Chuan Liu ◽  
Jing Shi ◽  
Ning Wang ◽  
Xiaobo Du ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
Cancer Susceptibility ◽  
Meta Analysis ◽  
Xrcc1 Arg399gln ◽  
Arg399gln Polymorphism

scholarly journals MTHFR and MDR1 Gene Polymorphisms in Yakut Patients with Non-Syndromic Orofacial Clefts

2021 ◽  
Vol 11 (4) ◽  
pp. 576-580
Author(s):  
Aleksandra Diakonova ◽  
Nadezhda Pavlova ◽  
Vladislav Alekseev ◽  
Lyubov Mironova ◽  
Khariton Kurtanov ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Gene Polymorphisms ◽  
Cleft Lip ◽  
Significant Risk ◽  
Rflp Analysis ◽  
Recessive Model ◽  
Mthfr Gene ◽  
Homozygous Genotype ◽  
Increased Risk ◽  
The Republic

The aim of our study was to investigate the relationship between the MDR1 and MTHFR gene polymorphisms and non-syndromic cleft lip with or without cleft palate (NSCL/P) in the Yakut population in the Republic of Sakha (Yakutia). Methods and Results: The sample of examined persons consisted of 60 children with NSCL/P. The NSCL/P group was divided into the CLP (cleft lip with cleft palate) subgroup (n=31), CLO (cleft lip only) subgroup (n=14), and CPO (cleft palate only) subgroup (n=15). The comparison group (control) included 174 healthy volunteers who did not have relatives with OFCs. The study of the MDR1 rs1045642 SNP and the MTHFR rs1801133 SNP was performed by PCR and RFLP analysis. Analysis of the frequency distribution of alleles and genotypes depending on the severity of clefts showed that the carriage of the TT homozygous genotype of the MDR1 rs1045642 SNP was associated with significant risk for the development of NSCL/P (OR=2.52, 95% CI: 1.19-5.32, P=0.02). Analysis of the recessive model (TT vs CC + TC) also found a significant risk of NSCL/P with the TT genotype carriage (OR=2.20, 95% CI: 1.06-4.57, P=0.04). Analysis of the over-dominant model (TC vs TT + CC) showed that the heterozygous TC genotype had a protective effect (OR=0.41; 95% CI: 0.22-0.77, P=0.01) on the development of NSCL/P. Subgroup analysis according to NSCL/P subtypes (CLO, CPO and CLP) showed that the MDR1 rs1045642 SNP was significantly associated with a high risk of CPO in three genetic models: heterozygous [(TT vs TC): OR=5.03; 95% CI: 1.55-16.32; P=0.01], recessive [(TT vs CC + TC): OR=3.96; 95% CI: 1.32-11.95; P=0.02], and over-dominant [(TC vs TT + CC): OR=0.23; 95% CI: 0.08-0.66; P=0.01]. Conclusion: A study of two SNPs in the MDR1and MTHFR genes revealed a statistically significant increased risk for NSCL/P in carriers of the TT genotype of the MDR1 rs1045642 SNP.

scholarly journals RANCANGAN PRIMER SPESIFIK GEN MACROPHAGE MANNOSE RECEPTOR (MMR) UNTUK POLYMERASE CHAIN REACTION (PCR) DAN SEKUENSING DEOXYRIBO NUCLEIC ACID (DNA)

2018 ◽  
Vol 22 (2) ◽  
pp. 158
Author(s):  
Yani Triyani ◽  
Nurizzatun Nafsi ◽  
Lelly Yuniarti ◽  
Nanan Sekarwana ◽  
Endang Sutedja ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Dna Sequencing ◽  
Mannose Receptor ◽  
Primer Design ◽  
Sequencing Analysis ◽  
Nucleotide Polymorphisms ◽  
Chain Reaction ◽  
Specific Pcr ◽  
Polymerase Chain ◽  
Dna Sequencing Analysis

The order (sequencing) determinationof DeoxyribonucleicAcid (DNA) bases is the gene’s most basic information, using the methodof Polymerase Chain Reaction (PCR) as its stage. A key factor of successful detection by PCR is specific PCR primer design choice. Thedetection of diversity of Mycobacterium Mannose Receptor (MMR) gene, responsible for recognizing mannosylated antigen structureof Mycobacterium tuberculosis (M.tb) by DNA sequencing of exon 7 chromosome 10p12, related to susceptiblity for PulmonaryTuberculosis(TB), was first performed in China in 2012. The purpose of this study was to find specific primerfromboth design originatedfrom the research in China/primer I and my own design/primer IIby using Primer3 software. This study was based on 10 healthy subjectsand was a preliminary study of a research titled. The Relationship of Single Nucleotide Polymorphisms (SNPs) of Macrophage MannoseReceptor Gene to Pulmonary Tuberculosis Cases. The examination materials consist of 3 mL of EDTA blood and DNA extraction from itsbuffy coat. The resulting DNA was processed by PCR to amplify MMR gene with primer I and II. The primer I successfully amplified DNAfragments up to 780bp while primer II only 329 bp. The MMR gene DNA sequencing analysis was performed on the amplification resultof both kinds primers by using DNA Baser and Ensembl−BLAST software. The results were different, DNA sequencing result by using theprimer I was found in several chromosomes and also in several loci. Whereas, by using the primer II, it was only found in chromosome10 and in the same locus. Based on this study, it can be concluded that the specific primer design is one of the most important factorsin the success of DNA sequencing.

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