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 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 Polymorphism of the SNP g. 1180 C>T in leptin gene and its association with growth traits and linear body measurement in Kebumen Ongole Grade cattle

2019 ◽  
Vol 44 (2) ◽  
pp. 125
Author(s):  
A. Fathoni ◽  
D. Maharani ◽  
R. N. Aji ◽  
R. Choiri ◽  
S. Sumadi
Keyword(s):  
Fragment Length Polymorphism ◽  
Growth Traits ◽  
Body Measurement ◽  
Chain Reaction ◽  
Genotypic Distribution ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Weaning Age ◽  
Polymerase Chain ◽  
Linear Body

The aim of this study was to identify the polymorphism of leptin gene and its association with growth traits in Kebumen Ongole Grade cattle. One hundred blood samples were collected for molecular analysis. Polymorphism of the leptin gene was analyzed using Polymerase Chain Reaction - Restriction Fragment Length Polymorphism (PCR-RFLP) with HpyCH4V restriction enzyme and DNA sequencing. Association analysis of the leptin gene with growth traits was analyzed by T-test. The results showed that SNP g. 1180 C>T was found in the population.The SNP changed amino acid from arginine to cysteine. The SNP was significantly associated with a high chest circumference at weaning age in animal having CC genotype (P<0.05). There were two identified alleles, namely C and T, with frequencies were 0.885 and 0.115,respectively. The genotype frequencies of CC, CT and TT were 0.78, 0.21 and 0.01, respectively. Allelic and genotypic distribution in the studied population were in Hardy-Weinbergequilibrium. Animals with CC genotype had a higher circumference at weaning age (WCC) than those with CT genotype. In conclusion, SNP g. 1180 C> T in the leptin gene is potential as genetic marker for growth traits in Kebumen Ongole Grade cattle.

scholarly journals IL17A G197A and IL17F T7488C genotypes of IL-17 gene as biomarkers in keratoconus

2021 ◽  
Author(s):  
Isabela Bronchtein Gomes ◽  
Christiane Maria Ayo ◽  
Alessandro Garcia Lopes ◽  
Laurie Sayuri Kumano ◽  
Geraldo Magela de Faria Junior ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Risk Factor ◽  
Restriction Fragment Length Polymorphism ◽  
Fragment Length Polymorphism ◽  
Northwestern Part ◽  
Chain Reaction ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Restriction Fragment Length

Abstract Investigate possible correlations between genetic polymorphisms of IL17A G197A (rs2275913) and IL17F T7488C (rs763780) with the development of keratoconus (KC) in patients from a population of the northwestern part of the State of São Paulo. Were enrolled 35 patients and 61 controls. Genotyping of IL17A G197A and IL17F T7488C polymorphisms was carried out using the PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism) technique. The evaluation of IL17F T7488C SNP found that the TT genotype is associated as a risk factor for the development of KC (P = 0.04; OR = 2.97; CI = 1.09–8.33). As for the evaluation of IL17A G197A SNP, the allele and genotype frequencies between patients and controls were compared and no statistically significant differences were found. The TT genotype of IL17F T7488C SNP apparently contributes to the development of KC and the IL17A G197A SNP seemingly has no influence on the progression of the disease in the population of this study.

scholarly journals Natural resistance-associated macrophage protein-1 gene polymorphisms and genetic susceptibility to pulmonary tuberculosis in sudanese patients

2021 ◽  
Vol 69 (1) ◽  
Author(s):  
Hamdan Zaki Hamdan ◽  
◽  
Yousif Omer Elgaili ◽  
Waleed Abd Alrazig Dosogi ◽  
◽  
...  
Keyword(s):  
Pulmonary Tuberculosis ◽  
Genetic Susceptibility ◽  
Gene Polymorphisms ◽  
Public Awareness ◽  
Natural Resistance ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Macrophage Protein

Genetic susceptibility to tuberculosis has been investigated worldwide, however a few studies conducted in Sudanese patients. Polymorphisms in NRAMP1 have shown an important association with susceptibility to tuberculosis and progression to active disease. However, whether there is an association of these polymorphisms with pulmonary tuberculosis among Sudanese patients is not investigated yet. The aim of this study was to determine the association of NRAMP1 polymorphisms with development of pulmonary tuberculosis in Sudanese subjects with pulmonary tuberculosis. A case-controls study (100 in each arm) was conducted at Al-Shaab Teaching Hospital in Khartoum, Sudan during the period of March through September 2017. Genotyping for NRAMP1 (rs3731865) INTR4 and (rs17235409) D543N was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).There was no significant difference in the mean± SD of the age and body mass index (BMI) between the cases (tuberculosis) and the controls [37.7 ± 4.1 vs. 35.9 ± 3.9 years; P=0.702] and [24.6 ± 1.9 vs. 24.7 ± 2.1; P=0.444], respectively. None of the genotype frequencies investigated in the two polymorphisms were associated with the development of pulmonary tuberculosis. There was a significant association with the development of tuberculosis with illiteracy P=<0.001. Gene polymorphisms of NRAMP1 (rs3731865) INTR4 and (rs17235409) D543N were not associated with pulmonary tuberculosis development in this setting. Further study is needed with larger sample size and different design and settings. Increase public awareness about tuberculosis infections and specially in those who are illiterate.

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.

scholarly journals Identifikasi Keragaman Gen DGAT1 serta Asosiasinya terhadap Karakteristik Karkas dan Sifat Perlemakan Domba

2019 ◽  
Vol 6 (2) ◽  
pp. 259
Author(s):  
Asep Gunawan ◽  
Ratna Sholatia Harahap ◽  
Kasita Listyarini ◽  
Cece Sumantri
Keyword(s):  
Polymerase Chain Reaction ◽  
Single Nucleotide Polymorphism ◽  
Fragment Length Polymorphism ◽  
Nucleotide Polymorphism ◽  
Chain Reaction ◽  
Single Nucleotide ◽  
Dgat1 Gene ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Restriction Fragment Length

ABSTRAK Karakteristik karkas dan sifat perlemakan pada daging domba dikontrol oleh banyak gen salah satunya gen DGAT1 (Diacylglycerol Acyltransferasel 1). Penelitian ini bertujuan mengidentifikasi SNP (Single Nucleotide Polymorphism) gen DGAT1 pada titik mutasi g.8539 C>T dan asosiasinya terhadap karakteristik karkas dan sifat perlemakan pada domba Indonesia. Total sampel domba yang digunakan sebanyak 150 buah terdiri dari 35 sampel domba compass agrinak (DCA), 36 sampel domba barbados cross (DBC), 41 sampel domba komposit garut (DKG), 20 sampel domba ekor gemuk (DEG), dan 18 sampel domba ekor tipis (DET). Karakteristik karkas dan sifat perlemakan diukur dari domba jantan berumur 10-12 bulan. Identifikasi keragaman DGAT1|ALuI dianalisis dengan metode PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism). Hasil keragaman gen DGAT1 bersifat polimorfik dalam DET dan DEG, sedangkan DCA, DBC, dan DKG bersifat monomorfik. Dua genotipe disebut CC dan  CT ditemukan dalam DET dan DEG. Titik mutasi gen DGAT1 berasosiasi (P<0.05) dengan karakteristik karkas, yaitu bobot dan panjang karkas. Selain itu, keragaman gen DGAT1 juga berasosiasi signifikan (P<0.05) dengan asam lemak jenuh, yaitu asam stearat (C18:0) dan asam arakidat (C20:0) dan asam lemak tak jenuh tunggal, yaitu asam oleat (C18:1n9c). Gen DGAT1 memiliki kontribusi dalam karakteristik karkas dan komposisi asam lemak pada domba.Kata Kunci: domba, gen DGAT1, karakteristik karkas, PCR-RFLP, sifat perlemakan                                                              ABSTRACT            Characteristic of carcass and fatness traits of sheep is regulated by many genes such as DGAT1 (Diacylglycerol Acyltransferasel 1) gene. The research was aimed to investigate SNP (Single Nucleotide Polymorphism) of DGAT1 and its association with characteristic of carcass and fatness traits in Indonesian sheep. A total sample of sheeps used 150 rams of 10–12 months consisted 35 samples of compas agrinak sheep (CAS), 36 of barbados cross (BCS), 41 of garut composite (GCS), 20  of javanese fat tailed (JFT), and 18 of javanese thin tailed (JTT). Identification variant of DGAT1|ALuI were performed by PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism). The results of polymorphism of DGAT1 were found in JTT and JFT. However, SNP of DGAT1 in CAS, BCS and GCS were monomorfic. Two genotype namely CC and CT were found in JTT and JFT populations. A SNP of the DGAT1 was associated (P<0.05) with characteristic of carcass, including weight and length of carcass. The variant of DGAT1 was associated too with saturated fatty acids (SFA) including stearic acid (C18:0) and arachidic acid (C20:0), and mono unsaturated fatty acid (MUFA) including oleic acid (C18:1n9c). The DGAT1 gene was contribute to characteristic carcass and fatty acid composition in sheep.Keywords: DGAT1 gene, characteristic carcass, fatness traits, PCR-RFLP, sheep

scholarly journals Evaluation of Frequency of PGC1-α and CKMM Genes Polymorphisms Among Iranian Elite Hockey Athletes

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Maryam Valipour ◽  
Parvaneh Azarali ◽  
Rostam Alizadeh
Keyword(s):  
Physical Activity ◽  
Environmental Factors ◽  
Sample Size ◽  
Dna Extraction ◽  
Gene Polymorphisms ◽  
Small Sample Size ◽  
Small Sample ◽  
Complex Phenotype ◽  
Genotype Frequencies ◽  
Pcr Rflp

Background: Physical activity is a complex phenotype influenced by millions of genes and environmental factors. It is well known that physical performance and sports ability are linked to genes variations. Objectives: The aim of this study was to evaluate the frequency of PGC1-α and CKMM gene polymorphisms in elite hockey athletes. Methods: Fifty Iranian elite national hockey athletes and 100 non-athletes participated in this study. To determine the genotypes of PGC1-α and CKMM gene polymorphisms, 2 ml of saliva was sampled and used for DNA extraction. To determine the genotypes, the PCR-RFLP method was employed. After examining the variants, the allele and genotype frequencies of subjects were measured. Results: The results showed no significant differences for the PPARGC1A gene in the percentage of AA, GG, and AG genotypes. Similarly, the percentage of these genotypes of the CKMM gene did not differ significantly between athletes and non-athletes. Conclusions: The results suggest that the gene polymorphisms of PGC1-α and CKMM are the same between the Iranian elite hockey athletes and non-athletes, which may be due to the overlapping effect of other genes and/or the small sample size of the study.

scholarly journals MDR1 polymorphisms are not related to Xeliri and Xelox chemoresistance in colorectal cancer

2019 ◽  
Author(s):  
Ayat B. Al-Ghafari ◽  
Areej M. Alqahtani ◽  
Suzan N. Alturki ◽  
Huda Abdulaziz Al Doghaither ◽  
Hanaa M. Tashkandi ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Drug Response ◽  
Fragment Length Polymorphism ◽  
Protective Role ◽  
Genotype Distribution ◽  
Chain Reaction ◽  
P Glycoprotein ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Polymerase Chain

Abstract Background Multidrug resistance member 1 (MDR1) is located on chromosome 7 and encodes P-glycoprotein (Pgp), which is universally accepted as a drug resistance biomarker. MDR1 polymorphisms may change either the protein expression or function, suggesting its possible association with cancers, including colorectal cancer (CRC). Thus, this study aimed to determine the effects of MDR1 polymorphisms on the drug response of Saudi CRC patients.Methods DNA samples were obtained from 62 CRC patients and 100 healthy controls. The genotypes and allele frequencies of the MDR1 polymorphisms G2677T and T1236C were determined by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP).Results No significant difference was observed in the genotype distribution and allele frequency of T1236C between the CRC the patients and the controls. However, G2677T was found to play a highly significant protective role against the progression of CRC. Moreover, the results showed that none of the genotypes in SNPs T1236C and G2677T affected chemoresistance to Xeliri and Xelox.Conclusions T1236C in the MDR1 gene is not related to CRC risk, and G2677T protects against the development of CRC. Both MDR1 polymorphisms are not associated with the risk of chemoresistance.

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