scholarly journals Association between XRCC1 exon 10 (Arg399Gln) gene polymorphism and micronucleus as a predictor of DNA damage among radiation workers

2018 ◽  
Vol 19 (5) ◽  
pp. 1676-1682 ◽  
Author(s):  
HARRY NUGROHO EKO SURNIYANTORO ◽  
YANTI LUSIYANTI ◽  
TUR RAHARDJO ◽  
SITI NURHAYATI ◽  
DEVITA TETRIANA

Surniyantoro HNE, Lusiyanti Y, Rahardjo T, Nurhayati S, Tetriana D. 2018. Association between XRCC1 exon 10(Arg399Gln) gene polymorphism and micronucleus as a predictor of DNA damage among radiation workers. Biodiversitas 19: 1676-1682. This study was aimed to examine the association between XRCC1 exon 10 gene polymorphism and micronucleus frequencies inradiation workers and their relation to the confounding factors. This study involved 37 radiation workers and 37 controls from severalhospitals in Indonesia. Genotyping of X-ray cross-complementing group 1 (XRCC1) exon 10 gene polymorphism and micronucleusassay were performed using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) and Cytokinesis-Block Micronucleus assay (CBMN assay), respectively. The results indicated that MN frequencies were not significantly higher in theexposed workers than in controls (20.46±6.42 versus 16.89 ±9.72; P=0.07). The micronucleus frequencies of radiation workers withmutant genotype showed not significantly higher than controls in the same genotypes (22±6.64 versus 11.75 ± 8.13; P=0.11). Theconfounding factors, like age, years of employment and equivalent doses were significantly associated with micronucleus frequencies(P<0.05). The equivalent dose has a significantly positive correlation with micronucleus frequencies among radiation workers,increasing the MN frequencies by 16.3 per 1 mSv of equivalent dose (P=0.001). The genetic polymorphism of XRCC1 gene exon 10demonstrated no association with the extent of DNA damage in the hospital radiation workers. The MN frequencies were stronglyassociated with age, equivalent dose and years of employment.

2021 ◽  
Vol 23 (4) ◽  
pp. 503-508
Author(s):  
S. A. Yermolenko ◽  
V. F. Orlovskyi ◽  
O. V. Orlovskyi ◽  
A. V. Zharkova ◽  
I. O. Moiseienko ◽  
...  

The aim of the study was to investigate the effect of thiazide diuretics on blood pressure (BP) depending on Gly460Trp ADD1 gene polymorphism in arterial hypertension (AH) patients of the Ukrainian population in order to predict their individual treatment efficacy. Material and methods. The study included 232 persons: 120 patients with verified stage II AH and 112 healthy individuals. Restriction fragment length polymerase chain reaction (PCR-RFLP) was used to detect genotype (the Gly460Trp-polymorphic locus of the ADD1 gene). The patients received standard therapy, which included ACE inhibitor – ramipril 5 mg, calcium channel antagonist – amlodipine 5 mg, statin – atorvastatin 20 mg, acetylsalicylic acid 75 mg. The patients were randomized into two groups: group I (60 persons) additionally taking treatment with 1.5 mg of indapamide retard and group II (60 persons) – with 25 mg of hydrochlorothiazide. The dynamic reduction of blood pressure has been assessed every 4 weeks for 2 months. Results. Among 120 patients with AH, 91 persons (75.8 %) were homozygous for the G allele (GG), 26 persons (21.7 %) – heterozygous (GT) and 3 persons (2.5 %) – homozygous for the T allele (TT), while the G allele frequency in patients with hypertension was 0.87, and the T allele – 0.13. 98 healthy individuals (87.5 %) were homozygous for the G allele, 13 individuals (11.6 %) were heterozygous, and 1 person (0.9 %) was homozygous for the T allele. The carrier frequency of the G and T alleles was 0.93 and 0.07, respectively. Allelic distribution indicated the predominance of the G allele carriers by Gly460Trp polymorphism of the ADD1 gene among the Ukrainian population, regardless of whether AH symptoms were present. It is noteworthy that the number of the T allele carriers was 2 times large among symptomatic patients than that among healthy individuals. In patients with the T allele, the hypotensive efficacy of indapamide was almost 3 times higher than that in patients with the G allele. The antihypertensive effect of hydrochlorothiazide in patients with the GT and TT genotypes was 2 times greater than that in the GG genotype carriers depending on the presence of the T allele G460T polymorphism of ADD1 gene in the genotype. Conclusions. Allelic distribution indicates the predominance of the G allele carriers by Gly460Trp ADD1 gene polymorphism among the Ukrainian population, regardless of whether AH symptoms are present. Among patients with AH, the accumulation of the T allele G460T polymorphic marker of the α-adducin gene is 2 times more than that in healthy individuals. Patients carrying the T allele demonstrate 2 times higher hypotensive efficacy of indapamide compared with hydrochlorothiazide.


2017 ◽  
Vol 42 (3) ◽  
pp. 153 ◽  
Author(s):  
P. P. Agung ◽  
S. Anwar ◽  
W. P. B. Putra ◽  
M. S. A. Zein ◽  
A. S. Wulandari ◽  
...  

A study was conducted to identify the polymorphism in the intron 3 of the Growth Hormone (GH) gene and also to evaluate the association of the GH gene polymorphism with growth parameters and dressing percentage in the Sumba Ongole (SO) cattle. A total of 267 individual DNA samples were used in the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) analysis. The SO cattle growth parameters data (n=44) including birth weight (BW), weaning weight at 205 days of age (WW205), yearling weight at 365 days of age (YW365) and also dressing percentage (DP) (n=122) were investigated in this study. There were three genotypes (AA, AB, and BB) of the GH gene based on the PCR-RFLP analysis with allele frequency was 0.87 and 0.13 for A allele and B allele respectively. The highest genotype frequency in the SO cattle is AA (0.76) and the lowest is BB (0.02). The Heterozygosity Observed (Ho) value in the SO cattle population is 0.23 and Polymorphism Information Content (PIC) value is 0.20. Therefore, the genetic diversity in the SO cattle based on the GH gene polymorphism is quite low. There is no association (P>0.05) in BW, WW205, YW365, and DP with genotypes of the GH gene. As the result, the GH gene in this study cannot be used as a genetic marker in the SO cattle breeding program.


2020 ◽  
Vol 16 (2) ◽  
pp. 185-189
Author(s):  
Emy Huriyati ◽  
Harry Freitag Luglio ◽  
Ahmad H. Sadewa ◽  
Mohammad Juffrie

Background: Obesity has been associated with genetic and environmental factors. Although carbohydrate intake was previously shown to be associated with a high risk of obesity and insulin resistance, some studies reported that genetic factors also have a role in this association. KCNJ11 is a gene involved in protein K-ATP channels of pancreatic beta cells and previously associated with obesity. Objective: The objective of this study was to determine the interaction between KCNJ11 polymorphism with a high intake of refined carbohydrates in relation to the incidence of obesity in adolescents. Method: This was an observational study with a case-control design. The subjects of this study were male and female adolescents from 10 high schools in Yogyakarta. Dietary intake, body weight, and height were collected. KCNJ11 gene polymorphism was detected by polymerase Chain Reaction- Restriction Fragment Length Polymorphism (PCR-RFLP) method. Result: There is a significant association between KCNJ11 polymorphism with a high intake of refined carbohydrates in the incidence of obesity in adolescents (OR = 2.35, p =0.036). Conclusion: There is a significant association between the KCNJ11 polymorphism with a high intake of refined carbohydrates in adolescent obesity.


Author(s):  
Jyotishree Bayan ◽  
Vishnu Kharadi ◽  
Umed Ramani ◽  
Mamta Janmeda ◽  
Kuldeep Tyagi ◽  
...  

The present investigation was planned to study growth hormone (GH) gene exon-4 polymorphism using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) in Surti and Mehsani goats. GH gene exon-4 region was found to be monomorphic on restriction digestion with HaeIII, which revealed only one genotype CC in both Surti and Mehsani goat breeds. The allelic frequency of C was 1.00 in both the breeds of goats with absence of D allele.


2018 ◽  
Vol 44 (2) ◽  
pp. 105 ◽  
Author(s):  
H. N.E. Surniyantoro ◽  
Y. Lusiyanti ◽  
T. Rahardjo ◽  
D. Tetriana ◽  
S. Nurhayati ◽  
...  

2020 ◽  
Vol 8 (4) ◽  
pp. 171-178
Author(s):  
Jafar Vatandoost ◽  
◽  
Maryam Sanaie ◽  
Kheirollah Yari ◽  
◽  
...  

Background: Gastric cancer is one of the most common malignancies in the world. It may result from a defect in the genes involved in DNA repair. One of the essential genes in the repair pathway is the XRCC1 gene that its polymorphisms in the human population play a role in gastric cancer susceptibility. The main purpose of this study was to investigate the association of 194C/T and 399G/A polymorphisms of the XRCC1 gene with gastric cancer in an Iranian population. Materials and methods: A total of 66 patients with gastric cancer and 67 control individuals were enrolled in our study. Following DNA extraction from blood samples, polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Results: The allele frequencies of C/T of XRCC1-194C/T in the control and patients groups were 83.17% and 71.29%, respectively. Moreover, The allele frequencies of G/A of XRCC1-399G/A in control and patient groups were 66.34% and 62.38%, respectively. Our results indicated a significant positive association between the distribution T/C alleles and the risk of gastric cancer (χ2: 5.37 and P=0.02), but no significant association was found in the distribution G/A alleles (χ2: 0.47 and P=0.48). Conclusion: Altogether, these findings indicate a positive association between the distribution of 194T/C alleles of XRCC1 and the risk of gastric cancer and the presence of the C allele may increase the risk of gastric cancer.


Author(s):  
E Minina ◽  
V Novikova ◽  
P Novikov ◽  
A Babenko

Objective. The role of the GLCCI1 gene polymorphism (rs37973) analysis in children with bronchial asthma (BA). Methods. The study involved 60 children 3-17 years old with allergic (n=37) and mixed forms of BA (n=23). The genetic study included performing genotyping of the studied locus of the GLCCI1 gene (rs37973) by PCR-RFLP (polymerase chain reaction – restriction fragment length polymorphism). Results. Analysis of the frequency of genotypes and alleles occurrence established the predominance of heterozygotes (AG) and allele G in the study group. There were statistically significantly higher indices of VC, FVC, FEV1 and MEF75 (according to spirometry data) with a heterozygous genotype (AG) in comparison with a homozygous GG (p<0,05). At the same time, there was a statistically significantly greater number of children with a FEV1 level ≥80% (p=0,009) when comparing the same subgroups of genotypes. Conclusion. The study revealed the association of GLCCI1 gene polymorphism (rs37973) with the respiratory function according to spirometry data. The presence of a heterozygous gene variant (AG) determined higher indicators of the function of respiratory function (VC, FVC, FEV1, MEF75). The study with the establishment of the GLCCI1 gene (rs37973) genotype can be used to diagnose a prognostically favorable and unfavorable course of asthma in children, which should be taken into account when choosing various basic methods of therapy and rehabilitation.


2022 ◽  
Vol 335 ◽  
pp. 00043
Author(s):  
Tri Eko Susilorini ◽  
Aswah Ridhowi ◽  
Wike Andre Septian ◽  
Ahmad Furqon

This research aimed to analyze the polymorphism of Lactoferrin (LTF) gene exon 4 associated with milk compositions in Senduro goats. A total of 42 DNA samples and milk compositions from Senduro goats were used in this study. The DNA sequence was amplified using Polymerase Chain Reaction (PCR) with a pair of primers. Genotyping was carried out using DNA sequencing and analyzed using FinchTV 1.4.0 and MEGA 6.0. In this research, the results showed that there were three genotypes (CC, CT, and TT) and two alleles (C and T). The frequencies of CC, CT, and TT genotypes were 0.381; 0.452; and 0.167, respectively. Furthermore, the frequencies of C and T alleles were 0.607 and 0.393, respectively. The genotype polymorphism did not affect on milk compositions. In conclusion, there was no association between polymorphism of LTF gene exon 4 and milk compositions in Senduro goats.


Author(s):  
Y. H. Gadhvi ◽  
V. B. Kharadi ◽  
U. V. Ramani ◽  
G. P. Pandya ◽  
N. S. Dangar ◽  
...  

This investigation was undertaken with the objective to study DGAT1 gene exon 8 polymorphism using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) in 53 Surti and 56 Banni buffaloes. The restriction digestion of 412 bp product with AluI revealed only one genotype AA in both Surti and Banni buffaloes. The frequencies of allele A were observed as 0.55 and 0.54 in Surti and Banni buffaloes, respectively on restriction digestion with HincII. The restriction digestion of amplified product with HphI revealed two fragments. The frequency of allele A were 0.71 and 0.36 in Surti and Banni buffaloes, respectively. We found that the 412 bp DGAT1 gene fragment was fairly polymorphic with HincII and HphI restriction enzymes, while monomorphic with AluI restriction enzyme in both buffalo populations studied.


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