scholarly journals The Frequencies of Allele Distribution of CYP2C9 and CYP2C19 Gene Polymorphisms in Healthy Papuan Population, Indonesia

2021 ◽  
Vol 20 (3) ◽  
Author(s):  
Syahrul Tuba ◽  
Zullies Ikawati ◽  
Mustofa
Keyword(s):  
Ethnic Group ◽  
Gene Polymorphisms ◽  
Fragment Length Polymorphism ◽  
Polymorphism Analysis ◽  
Allele Distribution ◽  
Pcr Rflp ◽  
Cyp2c19 Gene ◽  
Hardy Weinberg Equilibrium ◽  
Polymorphism Rate ◽  
Polymerase Chain

This study's objective was to determine the distribution of allele frequencies of CYP2C9 and CYP2C19 gene polymorphisms among the Papuan population, known as the second-largest ethnic group in Indonesia. According to recent research, there is a decrease in CYP2C9 and CYP2C19 produced by humans globally, including in Indonesia. These gene polymorphisms aid in the transmission of various endogenous and exogenous drugs in the human body. Material and Methods: A sum of 99 subjects, comprising 73 male and 26 female subjects aged 20-30 years, were used for this research. PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) analysis using AvaII, NsiI, and SfaNI enzymes tested for the genotypes CYP2C9 and CYP2C19 administered. The distribution of genotypes was calculated in the population (P<0.05) using the Hardy-Weinberg equilibrium. The Faculty of Medicine Gadjah Mada University's Medical and Health Research Ethics Committee (MHREC) accepted this research with written consent. The results revealed that in Papua subjects, CYP2C9*2 (rs1799853) and CYP2C19*17 (rs12248560) alleles were absent while in 17 percent of the population CYP2C9*3 (rs1057910) allele frequency was. In conclusion, CYP2C9*3 has the highest polymorphism rate in Indonesia, with the absence of CYP2C9*2 and CYP2C19*17. Therefore, genetic drift can occur within this ethnic group. Keywords: Genotyping; Papuan ethnic; Pharmacogenetics; Polymorphisms

scholarly journals The 3’-UTR Polymorphisms in the Thymidylate Synthase (TS) Gene Associated with The Risk of Ischemic Stroke and Silent Brain Infarction

2021 ◽  
Vol 11 (3) ◽  
pp. 200
Author(s):  
Jung Oh Kim ◽  
Han Sung Park ◽  
Eun Ju Ko ◽  
Jung Hoon Sung ◽  
Jinkwon Kim ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Thymidylate Synthase ◽  
Gene Polymorphisms ◽  
Cancer Metastasis ◽  
Fragment Length Polymorphism ◽  
Brain Infarction ◽  
Polymorphism Analysis ◽  
Silent Brain Infarction ◽  
Polymerase Chain ◽  
Lower Correlation

Thymidylate synthase (TS) is a key gene involved in the repair of DNA damage and DNA synthesis that plays an important role in vascular development and recovery. In particular, TS gene polymorphisms play a major role in the progression of vascular disease and cancer metastasis. Therefore, the aim of this study was to investigate the association of three TS polymorphisms (1100T>C [rs699517], 1170A>G [rs2790], and 1494ins/del [rs151264360]) with ischemic stroke and silent brain infarction (SBI) in Koreans. A total of 1299 participants (507 stroke patients, 383 SBI patients, and 409 controls) were enrolled in the study. Genotyping of the three TS polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism analysis. To examine the association between TS gene polymorphisms and the diseases, we performed statistical analyses, including multivariable logistic regression and Fisher’s exact tests. We found that TS 1100T>C and 1170A>G genotypes were strongly associated with ischemic stroke and SBI susceptibility. More specifically, the TS 1100T > C polymorphism was associated with the likelihood of ischemic stroke (TT vs. CC: AOR = 2.151, 95% CI = 1.275–3.628, P = 0.004) and SBI (TT vs. TC+CC: AOR = 1.443, 95 % CI = 1.009–2.063, P = 0.045). In contrast, the TS 1170A > G polymorphism exhibited lower correlation with the risk of stroke (AA vs. GG: AOR = 0.284, 95% CI = 0.151–0.537, P < 0.0001) and SBI (AA vs. GG: AOR = 0.070, 95% CI = 0.016–0.298, P = 0.0002). Furthermore, we confirmed that the TS 1100T > C polymorphism was synergistic with low folic acid levels (AOR = 6.749, P < 0.0001). Altogether, these results suggest that TS 1100T > C and 1170A > G polymorphisms are associated with the risk of ischemic stroke and SBI, and our study provides the first evidence that 3′-UTR variants in TS are potential biomarkers in ischemic stroke and SBI.:

scholarly journals Matrix Matalloproteinase-8 Gene Polymorphism in Chronic Periapical Lesions

PRILOZI ◽  
2015 ◽  
Vol 36 (2) ◽  
pp. 217-224 ◽  
Author(s):  
Biljana Evrosimovska ◽  
Cena Dimova ◽  
Lidija Popovska ◽  
Efka Zabokova-Bilbilova
Keyword(s):  
Gene Polymorphisms ◽  
Inflammatory Process ◽  
Fragment Length Polymorphism ◽  
Periapical Lesion ◽  
Contributing Factors ◽  
Periapical Lesions ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Periapical Inflammation

AbstractBackground/Aim: Increased levels of matrix metalloproteinase-8 (MMP-8) have been associated with risk of developing chronic periapical lesion (CPL). Gene polymorphisms are contributing factors in the pathogenesis of the inflammation. The aim of this study was to analyze polymorphism in the gene MMP-8 and its association and influence on clinical manifestation of CPL.Methods: A total of 240 unrelated Macedonian subjects were included in the present study. Polymorphism -799 C/T in the gene MMP-8 detected with restriction enzyme BgIII was studied in 120 patients with CPL and 120 controls without any signs of chronic or acute inflammatory process in the jaw. The amplification of the region of selected gene was made with polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP).Results: Our results showed that there were differences in the allele and genotype frequencies of the MMP8 -799 C/T polymorphisms between patients with CPL and controls (p < 0.05). Also this study suggests that MMP-8 polymorphism -799 C/T was a risk for expression of CPL (OR=8.27<3.44<OR<20.26).Conclusion: The detection of this genetic polymorphism is relevant for obtaining providential treatment of patients who are at high risk of chronic periapical inflammation.

scholarly journals g.640T>C Polymorphism of the TGF-β2 Gene is Associated with Salmonella pullorum Resistance in Indonesian Chickens

2018 ◽  
Vol 19 (2) ◽  
pp. 81 ◽  
Author(s):  
Muhammad Muhsinin ◽  
Niken Ulupi ◽  
Asep Gunawan ◽  
I Wayan Teguh Wibawan ◽  
Cece Sumantri
Keyword(s):  
Broiler Chicken ◽  
Transforming Growth Factor ◽  
Fragment Length Polymorphism ◽  
Pcr Rflp ◽  
Salmonella Pullorum ◽  
Hardy Weinberg Equilibrium ◽  
Transforming Growth Factor Β2 ◽  
Polymerase Chain ◽  
Leukocyte Concentration ◽  
Association Result

The objectives of this study were to identify polymorphism of transforming growth factor β2 (TGF-β2) gene associated with Salmonella pullorum resistance in Indonesian chickens. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assays were used to genotype Indonesian chickens. Analysis of polymorphism was conducted by using PopGen 3.2 software. The effect of genotype on S. pullorum resistance was analyzed using the SAS General Linear Model (GLM) procedure. Genotyping was performed on 278 chickens from 7 Indonesian chicken populations (Sentul, Merawang, Pelung, Kampung, Parent Cobb broiler, The F1 crossbreed of Kampung x Parent Cobb broiler (KB) and F2 KB x KB. The product of amplification was 284 bp. The TGF-β2| RsaI locus was polymorphic in all populations, producing two alleles (T and C) and three genotypes (TT, CT, and CC). The result from the analysis of the allele and genotype frequency showed that the T allele had a higher frequency than the C allele in all populations. The χ2 analysis showed that the 6 chicken populations were deviated from Hardy-Weinberg equilibrium, with the exception of the Parent Cobb broiler chicken. The association result showed that TT genotype was significantly associated with S. pullorum resistance in Sentul chicken. Although the leukocyte concentration, leukocyte differentiation and H/L ratio in Sentul chicken with three of TGF-β2 genotypes (TT, TC, and CC) were not statistically different. In conclusion, polymorphism in the TGF-β2 chicken gene can be used as a candidate marker to increase S. pullorum immune response.

scholarly journals Pitiríase versicolor circinada: isolamento de Malassezia sympodialis - Relato de caso

2010 ◽  
Vol 85 (2) ◽  
pp. 227-228 ◽  
Author(s):  
Valéria Maria de Souza Framil ◽  
Márcia S.C. Melhem ◽  
Maria Walderez Szeszs ◽  
Elaine Cristina Corneta ◽  
Clarisse Zaitz
Keyword(s):  
Polymerase Chain Reaction ◽  
Restriction Fragment Length Polymorphism ◽  
Length Polymorphism ◽  
Fragment Length ◽  
Fragment Length Polymorphism ◽  
Polymorphism Analysis ◽  
Chain Reaction ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Restriction Fragment Length

Os autores descrevem caso de pitiríase versicolor circinada, cujo agente etiológico isolado foi Malassezia sympodialis em uma mulher de 34 anos. O isolamento e identificação da Malassezia sympodialis foi em ágar Dixon modificado e o método molecular para confirmação da espécie foi PCR-RFLP (polymerase chain reaction and restriction fragment length polymorphism analysis).

scholarly journals Phytoplasma occurrence in apple trees in the Czech Republic

2011 ◽  
Vol 39 (No. 1) ◽  
pp. 7-12 ◽  
Author(s):  
R. Fialová ◽  
M. Navrátil ◽  
P. Válová
Keyword(s):  
Fragment Length Polymorphism ◽  
Rrna Gene ◽  
Polymorphism Analysis ◽  
Apple Proliferation ◽  
Chain Reaction ◽  
Apple Trees ◽  
The Czech Republic ◽  
High Incidence ◽  
Phytoplasma Infection ◽  
Polymerase Chain

The presence of phytoplasmas in apple trees with proliferation symptoms, rubbery wood symptoms and no symp&shy;toms was determined by using polymerase chain reaction assays with primers amplifying phytoplasma 16S rRNA gene. Phytoplasmas were detected in all trees with proliferation symptoms. Positive tests for phytoplasma in the group of trees with rubbery wood symptoms and of those without symptoms revealed a relatively high incidence of latent phytoplasma infection. Using restriction fragment length polymorphism analysis, phytoplasma of the same identity &ndash; apple proliferation phytoplasma (subgroup 16SrX-A) &ndash; was recorded in all positively tested trees. &nbsp;

scholarly journals CYP27B1 Gene Polymorphism rs10877012 in Patients Diagnosed with Colorectal Cancer

Nutrients ◽  
2020 ◽  
Vol 12 (4) ◽  
pp. 998
Author(s):  
Maria Latacz ◽  
Jadwiga Snarska ◽  
Elżbieta Kostyra ◽  
Konrad Wroński ◽  
Ewa Fiedorowicz ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Vitamin D ◽  
Fragment Length Polymorphism ◽  
Intestinal Cells ◽  
Chain Reaction ◽  
The Third ◽  
Pcr Rflp ◽  
Study Population ◽  
Polymerase Chain ◽  
Peripheral Leukocytes

Colorectal cancer (CRC) is the third most commonly occurring cancer worldwide. Intestinal cells are CYP27B1 gene expression sites and, as a consequence, they are capable of converting pro-vitamin D into the active paracrine and autocrine forms. It was demonstrated that rs10877012 polymorphism in the CYP27B1 gene influenced the circulating vitamin D level. This provided a rationale for determining the role that this polymorphism plays in the risk of developing colon cancer. In this study, we investigated the association of rs10877012 (T/G) polymorphism in the CYP27B1 gene with CRC susceptibility. The study population (n = 325) included CRC patients (n = 106) and healthy controls (n = 219). DNA was extracted from peripheral leukocytes and analyzed for the CYP27B1 polymorphism using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. We found an association between the presence of the T allele at the polymorphic site (odds ratio (OR) = 2.94; 95% CI 1.77–4.86; p < 0.0001) and a decreased CRC incidence.

scholarly journals Associations of biochemical changes and maternal traits with mutation 1843 (C>T) in the RYR1 gene as a common cause for porcine stress syndrome

2016 ◽  
Vol 19 (2) ◽  
pp. 75-80 ◽  
Author(s):  
ZT Popovski ◽  
B Tanaskovska ◽  
E Miskoska-Milevska ◽  
S Andonov ◽  
S Domazetovska
Keyword(s):  
Fragment Length Polymorphism ◽  
Protein Product ◽  
Biochemical Changes ◽  
Chain Reaction ◽  
Maternal Characteristics ◽  
Stress Syndrome ◽  
Pcr Rflp ◽  
Porcine Stress Syndrome ◽  
Heterozygous Carriers ◽  
Polymerase Chain

AbstractStress syndrome is usually caused by a mutation in theryanodine receptorgene(ryr1) and it is widely studied in humans and swine populations. The protein product of this gene plays a crucial role in the regulation of calcium transport in muscle cells. A G>T mutation in the humanryr1gene, which results in the replacement of a conserved arginine at position 614 where a leucine occurs at the same position as the previously identified Arg→Cys mutation reported in all cases of porcine stress syndrome (PSS). Porcine stress syndrome affects biochemical pathways in stress-susceptible individuals during a stress episode and some biochemical parameters that were used as markers for diagnostic purposes. Also, PSS has remarkable influence on the maternal characteristics of sows. This study dealt with different genotypes for PSS and its association with possible biochemical changes and maternal traits of sows. Seventy-three reproductive sows genotyped for PSS by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) were included in this survey. Sixty of them were stress-free (NN), 11 were heterozygous carriers (Nn) and two animals were homozygous (nn) for the 1843 (C>T) mutation. Significant differences in non stress induced animals with different PSS genotypes were found in the values of creatine phoshokinase (CPK), lactate dehydrogenase (LDH), alkaline phosphatase (AP) and aspartate aminotransferase (AST). Regarding the maternal traits, our study showed that stress susceptible animals (nn) have an increased number of stillborn piglets and a reduced number of newborn piglets compared with heterozygous and normal animals.

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