scholarly journals Is Post-ERCP Pancreatitis a Genetically Predisposed Complication?

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Konstantinos Mystakidis ◽  
George Kouklakis ◽  
Androniki Papoutsi ◽  
Vasilios D. Souftas ◽  
Eleni Efremidou ◽  
...  
Keyword(s):  
Risk Factors ◽  
Fragment Length Polymorphism ◽  
Screening Method ◽  
Chain Reaction ◽  
History Of ◽  
Allele Specific ◽  
Polymerase Chain ◽  
Spink 1 ◽  
N34s Mutation

Background/Objectives. Pancreatitis remains the most common complication of ERCP. History of post-ERCP pancreatitis is an independent risk factor for a new episode, suggesting a genetic background. The N34S mutation in serine protease inhibitor Kazal type 1 (SPINK 1) gene may downregulate the threshold for the development of pancreatitis. The aim of the present study is to evaluate the presence of this mutation among patients with post-ERCP pancreatitis.Methods. During a period of four years, thirty patients with post-ERCP pancreatitis entered the study. Patients and procedural data were collected, focusing on risk factors for pancreatitis. Blood samples were taken for genetic testing for the presence of N34S mutation in SPINK 1 gene. After DNA extraction, we used an allele-specific polymerase chain reaction as an initial screening method for the N34S mutation, and in order to confirm the results and to determine the hetero- and homozygosity genotype status, we used a restriction fragment length polymorphism (RFLP) method.Results. None of the thirty patients was found to carry the N34S mutation, with both of the applied methods. Patients had an average of two of the known risk factors.Conclusion. SPINK1 N34S mutation does not seem to play a role in post-ERCP pancreatitis, but larger studies needed to confirm our results.

scholarly journals Complete Sequences of the S-genes, Sd- and Sh-RNase cDNA in Apple

HortScience ◽  
2000 ◽  
Vol 35 (4) ◽  
pp. 712-715 ◽  
Author(s):  
Kentaro Kitahara ◽  
Junichi Soejima ◽  
Hiromitsu Komatsu ◽  
Hirokazu Fukui ◽  
Shogo Matsumoto
Keyword(s):  
Fragment Length Polymorphism ◽  
Rflp Analysis ◽  
Analysis Method ◽  
Chain Reaction ◽  
Specific Polymerase Chain Reaction ◽  
Complete Sequences ◽  
Allele Specific ◽  
Apple Cultivars ◽  
Polymerase Chain ◽  
S Genes

The S-locus genes in the pistil (S-RNases) were cloned from the apple (Malus ×domestica Borkh.) cultivar Akane (S-genotype SdSh from pollination analysis). The Sd- and Sh-RNase corresponded to S7- and S24-RNase, which have been cloned from `Idared' and `Braeburn', respectively. Sh-RNase was very similar to Sf- and Sg-RNases at the deduced amino acid-sequence levels (93%). We developed an S-allele specific polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) analysis method for distinguishing the Sh from Sf and Sg, and the Sh-alleles of `Akane', `Touhoku 2', `Vista Bella', and `Worcester Pearmain' were identified. We also identified the S-allele genotypes of 16 apple cultivars.

scholarly journals MicroRNAs και Long non-coding RNAs ως βιοδείκτες στην πρόβλεψη της φαρμακευτικής ανταπόκρισης ασθενών με μεταστατικό ορθοκολικό καρκίνο

2021 ◽  
Author(s):  
Δήμητρα-Ιωάννα Λαμπροπούλου
Keyword(s):  
Fragment Length Polymorphism ◽  
Chain Reaction ◽  
Specific Pcr ◽  
Non Coding Rna ◽  
Allele Specific ◽  
Non Coding Rnas ◽  
Polymerase Chain ◽  
Long Non Coding Rna ◽  
Allele Specific Pcr ◽  
Restriction Fragment Length

Σκοπός της παρούσας διδακτορικής διατριβής ήταν η διερεύνηση πιθανής συσχέτισης ανάμεσα στο προφίλ έκφρασης non coding RNA μονονουκλεοτιδικών πολυμορφισμών και στην ανταπόκριση στη θεραπεία ασθενών με μεταστατικό καρκίνο παχέος εντέρου-ορθού (ΚΠΕ-Ο) που λαμβάνουν χημειοθεραπευτικά σχήματα που περιλαμβάνουν την ιρινοτεκάνη, με απώτερο σκοπός την ανάδειξη νέων βιοδεικτών.Ασθενείς, Υλικά και Μέθοδοι: Η διερεύνηση των microRNA πολυμορφισμών έγινε σε γενωμικό DNA που απομονώθηκε από περιφερικό αίμα 105 ασθενών, ενώ η διερεύνηση των lncRNA πολυμορφισμών σε γενωμικό DNA που απομονώθηκε από περιφερικό αίμα 98 ασθενών με μεταστατικό ΚΠΕ-Ο. Η απομόνωση του γενωμικού DNA πραγματοποιήθηκε με τη χρήση του NucleoSpin Blood Kit (Macherey-Nagel, Germany). Η γονοτύπηση των πολυμορφισμών rs11134527 miR-218 και rs1834306 miR-100 έγινε με την τεχνική PCR (Polymerase chain Reaction)-RFLP (Restriction Fragment Length Polymorphism). H γονοτύπηση long non-coding RNA πολυμορφισμών HOTAIR rs4759314 και MALAT1 rs3200401 πραγματοποιήθηκε με την τεχνική AS (Allele Specific)-PCR. Ακολούθησε στατιστική ανάλυση κατά την οποία οι συχνότητες των γονοτύπων συγκρίθηκαν με τη δοκιμασία χ2 με διόρθωση κατά Yates (Yate’s correction). Η απλοτυπική ανάλυση πραγματοποιήθηκε με τη χρήση της διαδικτυακής πλατφόρμας https://www.snpstats.net/preproc.php. Αποτελέσματα: Υπομελέτη microRNA πολυμορφισμών-Δεν παρατηρήθηκαν στατιστικά σημαντικές συσχετίσεις ανάμεσα στην αντικειμενική ανταπόκριση και τους υπο μελέτη γονότυπους. Ωστόσο, οι GA και ΑΑ miR-218 rs11134527 και οι CT και TT του miR-100 rs1834306 συσχετίστηκαν στατιστικώς σημαντικά με την υποομάδα ασθενών που εμφάνισε πρόοδο νόσου. Δεν παρατηρήθηκαν στατιστικώς σημαντικές συσχετίσεις ανάμεσα τους υπό μελέτη γονότυπους και τον κίνδυνο εμφάνισης τοξικότητας. Οι γονότυποι GA και AA rs11134527 συνδέθηκαν στατιστικά περισσότερο με χειρότερη πρόγνωση. Ομοίως, οι rs1834306 CT και TT συσχετίστηκαν με στατιστικά μικρότερη συνολική επιβίωση. Από πολυπαραγοντική ανάλυση αναφορικά με την επίδραση στην επιβίωση, προκύπτει ότι η παρουσία των rs1834306 CT και TT γονοτύπων μπορεί να θεωρηθεί ως ανεξάρτητος προγνωστικός παράγοντας συνολικής επιβίωσης. Υπομελέτη Long non-coding RNA πολυμορφισμών- Δεν ανευρέθηκαν σημαντικές συσχετίσεις μεταξύ της ανταπόκρισης και τους rs4759314 και rs3200401 γονότυπους και απλότυπους. Φορείς των AG και GG γονοτύπων του rs4759314 φαίνεται ότι είναι στατιστικά πιθανότερο να φέρουν KRAS μεταλλάξεις. Ανευρέθηκε μια στατιστικά σημαντική συσχέτιση μεταξύ φορέων των rs3200401 CT/TT αλληλόμορφων και ανάπτυξης τοξικότητας. Δεν παρατηρήθηκαν στατιστικώς σημαντικές συσχετίσεις μεταξύ του πολυμορφισμού rs4759314 και συνολικής επιβίωσης. Ωστόσο, οι CT και TT γονότυποι του rs3200401 συνδέθηκαν σημαντικά με μικρότερη συνολική επιβίωση.Συμπεράσματα: Στην παρούσα μελέτη φάνηκε για πρώτη φορά πιθανή συσχέτιση μεταξύ των πολυμορφισμών miR-218 rs11134527 και miR-100 rs1834306 και ανταπόκρισης σε θεραπευτικά σχήματα που περιλαμβάνουν ιρινοτεκάνη. Επίσης, φάνηκε ότι φορείς του μεταλλαγμένου Α αλληλόμορφου του miR-218 rs11134527 και του μεταλλαγμένου T αλληλόμορφου του miR-100 rs1834306 είναι πιθανό να μην ανταποκριθούν σε σχήματα με ιρινοτεκάνη. Επιπλέον, οι GA/AA γονότυποι του rs11134527 και οι CT/TT του rs1834306 CT/TT συσχετίστηκαν στατιστικώς σημαντικά με μικρότερη συνολική επιβίωση. Αναφορικά με τον πολυμορφισμό rs3200401 MALAT1, φάνηκε για πρώτη φορά πιθανή συσχέτιση με την ανάπτυξη τοξικότητας και τη συνολική επιβίωση των ασθενών. Τέλος, η ανάλυση γονιδιακής έκφρασης έδειξε ότι φορείς του μεταλλαγμένου G αλληλόμορφου του rs4759314 HOTAIR είναι πιθανό να φέρουν επίσης KRAS μεταλλάξεις. Τα αποτελέσματα της μελέτης μας πρέπει να ενισχυθούν από μεγαλύτερης κλίμακας έρευνες με μεγαλύτερα πληθυσμιακά δείγματα, ώστε οι εν λόγω πολυμορφισμοί να μπορέσουν να χρησιμοποιηθούν για θεραπευτικούς και προγνωστικούς σκοπούς στο μέλλον.

scholarly journals Ovine and Caprine Brucellosis (Brucella melitensis) in Aborted Animals in Jordanian Sheep and Goat Flocks

2010 ◽  
Vol 2010 ◽  
pp. 1-7 ◽  
Author(s):  
Assadullah Samadi ◽  
M. MK. Ababneh ◽  
N. D. Giadinis ◽  
S. Q. Lafi
Keyword(s):  
Risk Factors ◽  
Biological Samples ◽  
Insertion Sequence ◽  
Fragment Length Polymorphism ◽  
Brucella Melitensis ◽  
Chain Reaction ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Endonuclease Enzyme ◽  
Restriction Fragment Length

Two hundred and fifty five biological samples were collected from 188 animals (81 sheep and 107 goats) during the lambing season from September 2009 to April 2010 from the Mafraq region of Jordan. Sampled animals belonged to 93 sheep and goat flocks that had abortion cases in the region. One hundred and seven (41.9%) biological samples were positive for theomp2primers that were able to identify allBrucellaspecies in the collected samples which were obtained from 86 aborted animals (86/188=45.7%). Using the B. melitensis insertion sequence 711 (IS711) primers on the 107omp2positive samples, only 61 confirmed to be positive forB. melitensis. These positive samples were obtained from 28 sheep and 33 goats. The prevalence rate ofB. melitensiswas 27.1% (51/188) among aborted animals. For differentiation between vaccine strain and field strain infection, polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method usingPstI endonuclease enzyme was used. Vaccination with Rev-1 in the last year (OR=2.92, CI: 1.1–7.7) and grazing at common pasture (OR=2.78, CI: 1.05–7.36) were statistically significant (P≤.05) risk factors positively associated with the occurrence of brucellosis in sheep and goat flocks.

Identification of nucleotide polymorphism within the NeuroD1 candidate gene and its association with type 1 diabetes susceptibility in Iranian people by polymerase chain reaction-restriction fragment length polymorphism

2020 ◽  
Vol 33 (10) ◽  
pp. 1293-1297
Author(s):  
Maryam Soltani asl ◽  
Parviz Azimnasab-sorkhabi ◽  
Ali-Akbar Abolfathi ◽  
Yashar Hashemi aghdam
Keyword(s):  
Type 1 Diabetes ◽  
Fragment Length Polymorphism ◽  
Control Group ◽  
Diabetic Patients ◽  
Chain Reaction ◽  
Diabetes Susceptibility ◽  
Healthy Control ◽  
Polymerase Chain ◽  
Restriction Fragment Length

AbstractObjectivesDiabetes is a serious disease, and the number of affected individuals with diabetes is considerably high. The aim of this study is the identification of NeuroD1 Ala45Thr polymorphism and its association with type 1 diabetes susceptibility in Iranian people.MethodsClinical and biochemical characteristics for 146 people (76 diabetics and 70 nondiabetics) were measured, such as fasting blood sugar, triacylglycerol, total cholesterol, age, and weight in each individual. Polymerase chain reaction-restriction fragment length polymorphism technique (MwoI restriction-enzyme) was used for genotyping of the NeuroD1 Ala45Thr polymorphism.ResultsIn this study, the frequency of the A allele in diabetic patients in comparison with the healthy control group had a significantly higher percentage (p < 0.01), whereas diabetic patients had the AA genotype, approximately four times more than the healthy control group (p < 0.01). In addition, we observed that fasting blood sugar had a higher concentration in the AA genotype than in AG + GG genotypes (p < 0.01).ConclusionsThe A allele may be a risk factor for the expansion of type 1 diabetes in the Iranian population. However, the NeuroD1 Ala45Thr polymorphism and its role in type 1 diabetes in different populations are controversial.

Frequency of Interleukins IL1ß/IL18 and Inflammasome NLRP1/NLRP3 Polymorphisms in Sickle Cell Anemia Patients and their Association with Severity Score

2019 ◽  
Vol 19 (10) ◽  
pp. 776-783
Author(s):  
Emerson de Almeida ◽  
Sonia Rejane Frantz ◽  
Purim Cesar ◽  
Andrea Monteiro Tarragô ◽  
Lilyane de Amorim Xabregas ◽  
...  
Keyword(s):  
Risk Factors ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Severity Score ◽  
Healthy Donor ◽  
Fragment Length Polymorphism ◽  
Multiple Logistic Regression ◽  
Chain Reaction ◽  
Pcr Rflp ◽  
Polymerase Chain

Background: Interleukins IL1ß/IL18 and Inflammasome NLRP1/NLRP3 polymorphisms can change the course of multiple human diseases, both inflammatory as infectious. SNPs these proteins were associated with the constructive activation of the Inflammasome and excessive production of IL-1β induce a serious autoinflammatory disease, as sickle cell anemia (SCA). The present study aims to association of interleukins IL1ß/IL18 and inflammasome NLRP1/NLRP3 polymorphisms in SCA patients in Amazon region and their association with severity score. Methods: The study was developed at Fundação Hospitalar de Hematologia e Hemoterapia do Amazonas (HEMOAM) with 21 patients diagnosed SCA (HbSS) and 50 Healthy Donor´s. Genetic polymorphisms (SNPs) in interleukins IL1ß/IL18 and inflammasome NLRP1/NLRP3 were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and real time PCR. Simple and multiple logistic regression were performed to investigate association between the polymorphisms and the SCA and severe score. Results: The genotypes C/C (IL18 -137G/C) and C/A (NLRP3, rs35829419) appear to be risk factors for SCA disease (IL18: G/G vs C/C OR=103.500 [95% CI: 8.32-1287.79, p<0.00001]; IL18: G/G vs G/C OR=7.360 [95% CI: 0.85-63.48, p=0.040]; IL18: G/G vs CC+CG OR=14.481 [95% CI: 1.79-117.32, p=0.002; NLRP3: C/C vs C/A: OR=10.967 [95% CI: 2.41-49.89, p=0.0004]). In addition, only allelic C (IL18 -137G/C) and A (NLRP3) appear to be risk factors for SCA disease (IL18: G vs C OR=6.366 [95% CI: 2.73-14.86, p<0.00001]; NLRP3: C vs A OR=8.383 [95% CI: 2.03-34.62, p=0.005]. No associations were observed between genotypes and alleles with the severity score. Conclusion: Evidence of association between the IL18 (rs16944) and NLRP3 (rs35829419) polymorphisms with sickle cell anemia were described. Our results suggest that individuals with genotypes evaluated are associated SCA disease even though it does not influence the severe score.

scholarly journals Median Nucleic Acid Conversion Time and The Clinical and Laboratory Parameters Affecting It in Patients with COVID-19

2021 ◽  
Author(s):  
Kadir Canoğlu ◽  
Tayfun Calişkan ◽  
Ecem Sinmez
Keyword(s):  
Risk Factors ◽  
Polymerase Chain Reaction ◽  
Nucleic Acid ◽  
Sore Throat ◽  
Chain Reaction ◽  
Laboratory Parameters ◽  
History Of ◽  
Conversion Time ◽  
Independent Risk Factors ◽  
Polymerase Chain

Background: The time for PCR positivity to negativity is defined as nucleic acid conversion time (NCT) and is very important in terminating the isolation of patients and determining infectiousness in patients with COVID-19. Objective: The aim of this study is to determine the median NCT and to evaluate the clinical and laboratory parameters affecting it in patients with COVID-19. Methods: This study included 318 mild to moderate patients with COVID-19 diagnosed with PCR positivity retrospectively. Results: The median NCT was 11 days. Patients were divided into 2 groups as early (<11 days) and late conversion (>=11 days). Older age, sore throat, onset fever, fever 72 hours after hospitalization, history of exposure to SARS-CoV-2 virus without a mask and moderated disease were significantly more common in the late conversion group. In addition, favipiravir use was higher in early conversion group and hydroxychloroquine use was higher in late conversion group. In multivariate analysis, sore throat (OR = 2.570; 95% CI: 1.051-6.284) and hydroxychloroquine use (OR = 3.518, 95% CI: 1.163-10.635) were independent risk factors for late conversion. Favipiravir use (OR = 0.062, 95% CI: 0.021-0.184) negatively affected the late conversion. Conclusion: NCT was longer in patients with COVID-19 who had sore throat at admission and were treated with hydroxychloroquine instead of favipiravir. Keywords: COVID-19, Nucleic Acids, Polymerase Chain Reaction, SARS-CoV-2.

Improved methods for genotype determination of human alcohol dehydrogenase (ADH) at ADH 2 and ADH 3 loci by using polymerase chain reaction-directed mutagenesis

1990 ◽  
Vol 36 (10) ◽  
pp. 1765-1768 ◽  
Author(s):  
A Groppi ◽  
J Begueret ◽  
A Iron
Keyword(s):  
Polymerase Chain Reaction ◽  
Alcohol Dehydrogenase ◽  
Fragment Length Polymorphism ◽  
Dna Amplification ◽  
Directed Mutagenesis ◽  
Chain Reaction ◽  
Allele Specific ◽  
Polymerase Chain ◽  
Improved Methods

Abstract The human gene for producing alcohol dehydrogenase (ADH; EC 1.1.1.1) is polymorphic at ADH 2 and ADH 3 loci. Until now, the study of this polymorphism required liver biopsy or allele-specific radioactive probes. We have used directed mutagenesis by the polymerase chain reaction (PCR) to amplify and analyze the genotype of ADH 2 and ADH 3 loci. Thus, we could determine easily and unambiguously the complete genotype at these two loci by using a microsample of blood and restriction fragment length polymorphism after DNA amplification by PCR.

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