Search results for: genotypes
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 78

Search results for: genotypes

18 A Novel Prediction Method for Tag SNP Selection using Genetic Algorithm based on KNN

Authors: Li-Yeh Chuang, Yu-Jen Hou, Jr., Cheng-Hong Yang

Abstract:

Single nucleotide polymorphisms (SNPs) hold much promise as a basis for disease-gene association. However, research is limited by the cost of genotyping the tremendous number of SNPs. Therefore, it is important to identify a small subset of informative SNPs, the so-called tag SNPs. This subset consists of selected SNPs of the genotypes, and accurately represents the rest of the SNPs. Furthermore, an effective evaluation method is needed to evaluate prediction accuracy of a set of tag SNPs. In this paper, a genetic algorithm (GA) is applied to tag SNP problems, and the K-nearest neighbor (K-NN) serves as a prediction method of tag SNP selection. The experimental data used was taken from the HapMap project; it consists of genotype data rather than haplotype data. The proposed method consistently identified tag SNPs with considerably better prediction accuracy than methods from the literature. At the same time, the number of tag SNPs identified was smaller than the number of tag SNPs in the other methods. The run time of the proposed method was much shorter than the run time of the SVM/STSA method when the same accuracy was reached.

Keywords: Genetic Algorithm (GA), Genotype, Single nucleotide polymorphism (SNP), tag SNPs.

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17 The Study of the Mutual Effect of Genotype in Environment by Percent of Oil Criterion in Sunflower

Authors: Seyed Mohammad Nasir Mousavi, Pasha Hejazi, Maryam Ebrahimian Dehkordi

Abstract:

In order to study the Mutual effect of genotype × environment for the percent of oil index in sunflower items, an experiment was accomplished form complete random block designs in four iteration and was four diverse researching station comprising Esfahan, Birjand, Sari, and Karaj. Complex variance analysis showed that there is an important diversity between the items under investigation. The results relevant the coefficient variation of items Azargol and Vidoc has respectively allocated the minimum coefficient of variations. According to the results extrapolated from Shokla stability variance, the Items Brocar, Allison and Fabiola, are among the stable genotypes for oil percent respectively. In the biplot GGE, the location under investigations divided in two superenvironments, first one comprised of locations naming Esfahan, Karaj, and Birjand, and second one were such a location as Sari. By this point of view, in the first super-environment, the Item Fabiola and in the second Almanzor item was among the best items and crops.

Keywords: Sunflower, Stability, GGE biplot, Super- Environment.

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16 Development of All-male Fingerlings by Heat Treatment and the Genetic Mechanism of Heat Induced Sex Determination in Nile Tilapia(Oreochromis niloticus L.)

Authors: P. O. Angienda, B. O. Aketch, E. N. Waindi

Abstract:

Juvenile Nile tilapia subjected to heat treatment at temperatures ranging from 260C to 370C showed positive correlation (P<0.01) between treatment temperatures and resultant sex ratios, while, survival rate of the fry showed a negative correlation against temperature (P<0.01). The optimal temperature for both sex shift towards males and survival rates was 36±0.5°C, producing male percentage of 86.31 and a fry survival of 65.25. To determine the genetic basis of temperature sex-determination in Nile tilapia, we employed three microsatellite markers (Abur36, Abur100 and UNH846). Abur36 predicted the sex of 95% of the heat induced individuals, suggesting that the locus influence sex ratio and its interaction with temperature result in male biased sex ratio. This locus could turn out to be the major sex determining gene operating in Nile tilapia. These markers could be used in marker-assisted selection to select genotypes that give a higher percentage of males for commercial production.

Keywords: Heat treatment, Microsatellite, Nile tilapia, sex-determination.

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15 The Association of Matrix Metalloproteinase-3 Gene -1612 5A/6A Polymorphism with Susceptibility to Coronary Artery Stenosis in an Iranian Population

Authors: M. Seifi, S. Fallah, M. Firoozrai

Abstract:

Matrix metalloproteinase-3 (MMP3) is key member of the MMP family, and is known to be present in coronary atherosclerotic. Several studies have demonstrated that MMP-3 5A/6A polymorphism modify each transcriptional activity in allele specific manner. We hypothesized that this polymorphism may play a role as risk factor for development of coronary stenosis. The aim of our study was to estimate MMP-3 (5A/6A) gene polymorphism on interindividual variability in risk for coronary stenosis in an Iranian population.DNA was extracted from white blood cells and genotypes were obtained from coronary stenosis cases (n=95) and controls (n=100) by PCR (polymerase chain reaction) and restriction fragment length polymorphism techniques. Significant differences between cases and controls were observed for MMP3 genotype frequencies (X2=199.305, p< 0.001); the 6A allele was less frequently seen in the control group, compared to the disease group (85.79 vs. 78%, 6A/6A+5A/6A vs. 5A/5A, P≤0.001). These data imply the involvement of -1612 5A/6A polymorphism in coronary stenosis, and suggest that probably the 6A/6A MMP-3 genotype is a genetic susceptibility factor for coronary stenosis.

Keywords: Coronary artery stenosis, matrixmetalloproteinase-3, polymorphism, polymerase chain reaction.

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14 Molecular Characterization of Echinococcus granulosus through Amplification of 12S rRNA Gene and Cox1 Gene Fragments from Cattle in Chittagong, Bangladesh

Authors: M. Omer Faruk, A. M. A. M. Zonaed Siddiki, M. Fazal Karim, Md. Masuduzzaman, S. Chowdhury, Md. Shafiqul Islam, M. Alamgir Hossain

Abstract:

The dog tapeworms Echinococcus granulosus develop hydatid cysts in various organs in human and domestic animals worldwide including Bangladesh. The aim of this study was to identify and characterize the genotype of E. granulosus isolated from cattle using 12S rRNA and Cytochrome oxidase 1 (COX 1) genes. A total of 43 hydatid cyst samples were collected from 390 examined cattle samples derived from slaughterhouses. Among them, three cysts were fertile. Genomic DNA was extracted from germinal membrane and/or protoscoleces followed by PCR amplification of mitochondrial 12S rRNA and Cytochrome oxidase 1 gene fragments. The sequence data revealed existence of G1 (64.28%) and possible G3 (21.43%) genotypes for the first time in Bangladesh. The study indicates that common sheep strain G1 is the dominant subtype of E. granulosus in Chittagong region of Bangladesh. This will increase our understanding of the epidemiology of hydatidosis in the southern part of the country and will be useful to plan suitable control measures in the long run.

Keywords: Echinococcus granulosus, molecular characterization, cattle, Bangladesh.

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13 Nutritional Composition of Iranian Desi and Kabuli Chickpea (Cicer Arietinum L.) Cultivars in Autumn Sowing

Authors: Khosro Mohammadi

Abstract:

The grain quality of chickpea in Iran is low and instable, which may be attributed to the evolution of cultivars with a narrow genetic base making them vulnerable to biotic stresses. Four chickpea varieties from diverse geographic origins were chosen and arranged in a randomized complete block design. Mesorhizobium sp. cicer strain SW7 was added to all the chickpea seeds. Chickpea seeds were planted on October 9, 2013. Each genotype was sown 5 m in length, with 35 cm inter-row spacing, in 3 rows. Weeds were removed manually in all plots. Results showed that Analysis of variance on the studied traits showed significant differences among genotypes for N, P, K and Fe contents of chickpea, but there is not a significant difference among Ca, Zn and Mg continents of chickpea. The experimental coefficient of variation (CV) varied from 7.3 to 15.8. In general, the CV value lower than 20% is considered to be good, indicating the accuracy of conducted experiments. The highest grain N was observed in Hashem and Jam cultivars. The highest grain P was observed in Jam cultivar. Phosphorus content (mg/100g) ranged from 142.3 to 302.3 with a mean value of 221.3. The negative correlation (-0.126) was observed between the N and P of chickpea cultivars. The highest K and Fe contents were observed in Jam cultivar.

Keywords: Cultivar, genotype, nitrogen, nutrient, yield.

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12 Antioxidant Properties of Sweet Cherries(Prunus avium L.) - Role of Phenolic Compounds

Authors: Dejan Prvulović, Djordje Malenčić, Milan Popović, Mirjana Ljubojević, Vladislav Ognjanov

Abstract:

Sweet cherries (Prunus avium L.) contain various phenolic compounds which contribute to total antioxidant activity. Total polyphenols, tannins, flavonoids and anthocyanins, and antioxidant capacity in a fruits of a number of selected sweet cherry genotypes were investigated. Total polyphenols content ranged from 4.12 to 8.34 mg gallic acid equivantents/g dry fruit weight and total tannins content ranged from 0.19 to 1.95 mg gallic acid equivalent/g dry fruit weight. Total flavonoids were within the range 0.42-1.56 mg of rutin equivalents/g dry fruit weight and total anthocyanins content were between 0.35 and 0.69 mg cyanidin 3-glucoside equivalent/ g dry fruit weight. Although sweet cherry fruits are a significant source of different phenolic compounds, antioxidant activity of sweet cherries is not related only with the total polyphenolics, flavonoids or anthocyanins.

Keywords: antioxidant activity, polyphenols, Prunus avium L., sweet cherry

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11 Apolipoprotein E Gene Polymorphism and Its Association with Cardiovascular Heart Disease Risk Factors in Type 2 Diabetes Mellitus

Authors: Amani Ashari, Julia Omar, Arif Hashim, Shahrul Hamid

Abstract:

Apolipoprotein E (APOE) gene polymorphism has influence on serum lipids which relates to cardiovascular risk. The purpose of this study was to determine the frequency distribution of APOE alleles among Malaysian Type 2 Diabetes Mellitus (DM) patients with and without coronary artery disease (CAD) and their association with serum lipid profiles. A total of 115 patients were recruited in which 78 patients had Type 2 DM without CAD and 37 patients had Type 2 DM with CAD. The APOE polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The APOE ɛ3 allele was the most common one in both groups. There was no significant association between the APOE genotypes and the CAD status in Type 2 DM using Pearson χ2 test. Further analysis indicated there were no significant differences in all lipid parameters between E2, E3 and E4 subgroups in both groups. The study showed that the E4 allele carriers of Type 2 DM with CAD patients had higher LDL-C level and lower HDL-C level compared to the other allele carriers. However, analyses showed these levels were not statistically different. The study also showed that the Type 2 DM with CAD group with E2 allele had higher triglyceride (TG). In conclusion, further study with larger sample size is needed to confirm role of E4 as a marker of CAD among Type 2 DM patients in Malaysian population.

Keywords: Apolipoprotein E, diabetes mellitus, cardiovascular disease, lipids.

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10 ZBTB17 Gene rs10927875 Polymorphism in Slovak Patients with Dilated Cardiomyopathy

Authors: I. Boroňová, J. Bernasovská, J. Kmec, E. Petrejčíková

Abstract:

Dilated cardiomyopathy (DCM) is a severe cardiovascular disorder characterized by progressive systolic dysfunction due to cardiac chamber dilatation and inefficient myocardial contractility often leading to chronic heart failure. Recently, a genome-wide association studies (GWASs) on DCM indicate that the ZBTB17 gene rs10927875 single nucleotide polymorphism is associated with DCM. The aim of the study was to identify the distribution of ZBTB17 gene rs10927875 polymorphism in 50 Slovak patients with DCM and 80 healthy control subjects using the Custom Taqman®SNP Genotyping assays. Risk factors detected at baseline in each group included age, sex, body mass index, smoking status, diabetes and blood pressure. The mean age of patients with DCM was 52.9±6.3 years; the mean age of individuals in control group was 50.3±8.9 years. The distribution of investigated genotypes of rs10927875 polymorphism within ZBTB17 gene in the cohort of Slovak patients with DCM was as follows: CC (38.8%), CT (55.1%), TT (6.1%), in controls: CC (43.8%), CT (51.2%), TT (5.0%). The risk allele T was more common among the patients with dilated cardiomyopathy than in normal controls (33.7% versus 30.6%). The differences in genotype or allele frequencies of ZBTB17 gene rs10927875 polymorphism were not statistically significant (p=0.6908; p=0.6098). The results of this study suggest that ZBTB17 gene rs10927875 polymorphism may be a risk factor for susceptibility to DCM in Slovak patients with DCM. Studies of numerous files and additional functional investigations are needed to fully understand the roles of genetic associations.

Keywords: Dilated cardiomyopathy, SNP polymorphism, ZBTB17 gene.

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9 Classifying of Maize Inbred Lines into Heterotic Groups using Diallel Analysis

Authors: Mozhgan Ziaie Bidhendi, Rajab Choukan, Farokh Darvish, Khodadad Mostafavi, Eslam Majidi

Abstract:

The selection of parents and breeding strategies for the successful maize hybrid production will be facilitated by heterotic groupings of parental lines and determination of combining abilities of them. Fourteen maize inbred lines, used in maize breeding programs in Iran, were crossed in a diallel mating design. The 91 F1 hybrids and the 14 parental lines were studied during two years at four locations of Iran for investigation of combining ability of gentypes for grain yield and to determine heterotic patterns among germplasm sources, using both, the Griffing-s method and the biplot approach for diallel analysis. The graphical representation offered by biplot analysis allowed a rapid and effective overview of general combining ability (GCA) and specific combining ability (SCA) effects of the inbred lines, their performance in crosses, as well as grouping patterns of similar genotypes. GCA and SCA effects were significant for grain yield (GY). Based on significant positive GCA effects, the lines derived from LSC could be used as parent in crosses to increase GY. The maximum best- parent heterosis values and highest SCA effects resulted from crosses B73 × MO17 and A679 × MO17 for GY. The best heterotic patterns were LSC × RYD, which would be potentially useful in maize breeding programs to obtain high-yielding hybrids in the same climate of Iran.

Keywords: biplot, diallel, Griffing, Heterotic pattern

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8 ACTN3 Genotype Association with Motoric Performance of Roma Children

Authors: J. Bernasovska, I. Boronova, J. Poracova, M. Mydlarova Blascakova, V. Szabadosova, P. Ruzbarsky, E. Petrejcikova, I. Bernasovsky

Abstract:

The paper presents the results of the molecular genetics analysis in sports research, with special emphasis to use genetic information in diagnosing of motoric predispositions in Roma boys from East Slovakia. The ability and move are the basic characteristics of all living organisms. The phenotypes are influenced by a combination of genetic and environmental factors. Genetic tests differ in principle from the traditional motoric tests, because the DNA of an individual does not change during life. The aim of the presented study was to examine motion abilities and to determine the frequency of ACTN3 (R577X) gene in Roma children. Genotype data were obtained from 138 Roma and 155 Slovak boys from 7 to 15 years old. Children were investigated on physical performance level in association with their genotype. Biological material for genetic analyses comprised samples of buccal swabs. Genotypes were determined using Real Time High resolution melting PCR method (Rotor-Gene 6000 Corbett and Light Cycler 480 Roche). The software allows creating reports of any analysis, where information of the specific analysis, normalized and differential graphs and many information of the samples are shown. Roma children of analyzed group legged to non-Romany children at the same age in all the compared tests. The % distribution of R and X alleles in Roma children was different from controls. The frequency of XX genotype was 9.26%, RX 46.33% and RR was 44.41%. The frequency of XX genotype was 9.26% which is comparable to a frequency of an Indian population. Data were analyzed with the ANOVA test.

Keywords: ACTN3 gene, R577X polymorphism, Roma children, Slovakia, sports performance.

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7 Phosphine Mortality Estimation for Simulation of Controlling Pest of Stored Grain: Lesser Grain Borer (Rhyzopertha dominica)

Authors: Mingren Shi, Michael Renton

Abstract:

There is a world-wide need for the development of sustainable management strategies to control pest infestation and the development of phosphine (PH3) resistance in lesser grain borer (Rhyzopertha dominica). Computer simulation models can provide a relatively fast, safe and inexpensive way to weigh the merits of various management options. However, the usefulness of simulation models relies on the accurate estimation of important model parameters, such as mortality. Concentration and time of exposure are both important in determining mortality in response to a toxic agent. Recent research indicated the existence of two resistance phenotypes in R. dominica in Australia, weak and strong, and revealed that the presence of resistance alleles at two loci confers strong resistance, thus motivating the construction of a two-locus model of resistance. Experimental data sets on purified pest strains, each corresponding to a single genotype of our two-locus model, were also available. Hence it became possible to explicitly include mortalities of the different genotypes in the model. In this paper we described how we used two generalized linear models (GLM), probit and logistic models, to fit the available experimental data sets. We used a direct algebraic approach generalized inverse matrix technique, rather than the traditional maximum likelihood estimation, to estimate the model parameters. The results show that both probit and logistic models fit the data sets well but the former is much better in terms of small least squares (numerical) errors. Meanwhile, the generalized inverse matrix technique achieved similar accuracy results to those from the maximum likelihood estimation, but is less time consuming and computationally demanding.

Keywords: mortality estimation, probit models, logistic model, generalized inverse matrix approach, pest control simulation

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6 Phelipanche ramosa (L. - Pomel) Control in Field Tomato Crop

Authors: Disciglio G., Lops F., Carlucci A., Gatta G., Tarantino A., Frabboni L., Carriero F., Cibelli F., Raimondo M. L., Tarantino E.

Abstract:

The tomato is a very important crop, whose cultivation in the Mediterranean basin is severely affected by the phytoparasitic weed Phelipanche ramosa. The semiarid regions of the world are considered the main areas where this parasitic weed is established causing heavy infestation as it is able to produce high numbers of seeds (up to 500,000 per plant), which remain viable for extended period (more than 20 years). In this paper the results obtained from eleven treatments in order to control this parasitic weed including chemical, agronomic, biological and biotechnological methods compared with the untreated test under two plowing depths (30 and 50 cm) are reported. The split-plot design with 3 replicates was adopted. In 2014 a trial was performed in Foggia province (southern Italy) on processing tomato (cv Docet) grown in the field infested by Phelipanche ramosa. Tomato seedlings were transplant on May 5, on a clay-loam soil. During the growing cycle of the tomato crop, at 56-78 and 92 days after transplantation, the number of parasitic shoots emerged in each plot was detected. At tomato harvesting, on August 18, the major quantity-quality yield parameters were determined (marketable yield, mean weight, dry matter, pH, soluble solids and color of fruits). All data were subjected to analysis of variance (ANOVA) and the means were compared by Tukey's test. Each treatment studied did not provide complete control against Phelipanche ramosa. However, among the different methods tested, some of them which Fusarium, gliphosate, radicon biostimulant and Red Setter tomato cv (improved genotypes obtained by Tilling technology) under deeper plowing (50 cm depth) proved to mitigate the virulence of the Phelipanche ramose attacks. It is assumed that these effects can be improved combining some of these treatments each other, especially for a gradual and continuing reduction of the “seed bank” of the parasite in the soil.

Keywords: Control methods, Phelipanche ramosa, tomato crop.

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5 Genotypic and Allelic Distribution of Polymorphic Variants of Gene SLC47A1 Leu125Phe (rs77474263) and Gly64Asp (rs77630697) and Their Association to the Clinical Response to Metformin in Adult Pakistani T2DM Patients

Authors: Sadaf Moeez, Madiha Khalid, Zoya Khalid, Sania Shaheen, Sumbul Khalid

Abstract:

Background: Inter-individual variation in response to metformin, which has been considered as a first line therapy for T2DM treatment is considerable. In the current study, it was aimed to investigate the impact of two genetic variants Leu125Phe (rs77474263) and Gly64Asp (rs77630697) in gene SLC47A1 on the clinical efficacy of metformin in T2DM Pakistani patients. Methods: The study included 800 T2DM patients (400 metformin responders and 400 metformin non-responders) along with 400 ethnically matched healthy individuals. The genotypes were determined by allele-specific polymerase chain reaction. In-silico analysis was done to confirm the effect of the two SNPs on the structure of genes. Association was statistically determined using SPSS software. Results: Minor allele frequency for rs77474263 and rs77630697 was 0.13 and 0.12. For SLC47A1 rs77474263 the homozygotes of one mutant allele ‘T’ (CT) of rs77474263 variant were fewer in metformin responders than metformin non-responders (29.2% vs. 35.5 %). Likewise, the efficacy was further reduced (7.2% vs. 4.0 %) in homozygotes of two copies of ‘T’ allele (TT). Remarkably, T2DM cases with two copies of allele ‘C’ (CC) had 2.11 times more probability to respond towards metformin monotherapy. For SLC47A1 rs77630697 the homozygotes of one mutant allele ‘A’ (GA) of rs77630697 variant were fewer in metformin responders than metformin non-responders (33.5% vs. 43.0 %). Likewise, the efficacy was further reduced (8.5% vs. 4.5%) in homozygotes of two copies of ‘A’ allele (AA). Remarkably, T2DM cases with two copies of allele ‘G’ (GG) had 2.41 times more probability to respond towards metformin monotherapy. In-silico analysis revealed that these two variants affect the structure and stability of their corresponding proteins. Conclusion: The present data suggest that SLC47A1 Leu125Phe (rs77474263) and Gly64Asp (rs77630697) polymorphisms were associated with the therapeutic response of metformin in T2DM patients of Pakistan.

Keywords: Diabetes, T2DM, SLC47A1, Pakistan, polymorphism.

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4 Analysis of Metallothionein Gene MT1A (rs11076161) and MT2A (rs10636) Polymorphisms as a Molecular Marker in Type 2 Diabetes Mellitus among Malay Population

Authors: Norsakinah Mohammad Osman, Ali Etemad, Patimah Ismail

Abstract:

Type 2 diabetes mellitus (T2DM) is a complex metabolic disorder that characterized by the presence of high glucose in blood that cause from insulin resistance and insufficiency due to deterioration β-cell Langerhans functions. T2DM is commonly caused by the combination of inherited genetic variations as well as our own lifestyle. Metallothionein (MT) is a known cysteine-rich protein responsible in helping zinc homeostasis which is important in insulin signaling and secretion as well as protection our body from reactive oxygen species (ROS). MT scavenged ROS and free radicals in our body happen to be one of the reasons of T2DM and its complications. The objective of this study was to investigate the association of MT1A and MT2A polymorphisms between T2DM and control subjects among Malay populations. This study involved 150 T2DM and 120 Healthy individuals of Malay ethnic with mixed genders. The genomic DNA was extracted from buccal cells and amplified for MT1A and MT2A loci; the 347bp and 238bp banding patterns were respectively produced by mean of the Polymerase Chain Reaction (PCR). The PCR products were digested with Mlucl and Tsp451 restriction enzymes respectively and producing fragments lengths of (158/189/347bp) and (103/135/238bp) respectively. The ANOVA test was conducted and it shown that there was a significant difference between diabetic and control subjects for age, BMI, WHR, SBP, FPG, HBA1C, LDL, TG, TC and family history with (P<0.05). While the HDL, CVD risk ratio and DBP does not show any significant difference with (P>0.05). The genotype frequency for AA, AG and GG of MT1A polymorphisms was 72.7%, 22.7% and 4.7% in cases and 15%, 55% and 30% in control respectively. As for MT2A, genotype frequency of GG, GC and CC was 42.7%, 27.3% and 30% in case and 5%, 40% and 55% for control respectively. Both polymorphisms show significant difference between two investigated groups with (P=0.000). The Post hoc test was conducted and shows a significant difference between the genotypes within each polymorphism (P=0. 000). The MT1A and MT2A polymorphisms were believed to be the reliable molecular markers to distinguish the T2DM subjects from healthy individuals in Malay populations.

Keywords: Type 2 Diabetes Mellitus (T2DM), Metallothionein (MT), MT1A (rs11076161), MT2A (rs10636), Malay, Genetic Polymorphism.

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3 Role of Oxidative DNA Damage in Pathogenesis of Diabetic Neuropathy

Authors: Ireneusz Majsterek, Anna Merecz, Agnieszka Sliwinska, Marcin Kosmalski, Jacek Kasznicki, Jozef Drzewoski

Abstract:

Oxidative stress is considered to be the cause for onset and the progression of type 2 diabetes mellitus (T2DM) and complications including neuropathy. It is a deleterious process that can be an important mediator of damage to cell structures: protein, lipids and DNA. Data suggest that in patients with diabetes and diabetic neuropathy DNA repair is impaired, which prevents effective removal of lesions. Objective: The aim of our study was to evaluate the association of the hOGG1 (326 Ser/Cys) and XRCC1 (194 Arg/Trp, 399 Arg/Gln) gene polymorphisms whose protein is involved in the BER pathway with DNA repair efficiency in patients with diabetes type 2 and diabetic neuropathy compared to the healthy subjects. Genotypes were determined by PCR-RFLP analysis in 385 subjects, including 117 with type 2 diabetes, 56 with diabetic neuropathy and 212 with normal glucose metabolism. The polymorphisms studied include codon 326 of hOGG1 and 194, 399 of XRCC1 in the base excision repair (BER) genes. Comet assay was carried out using peripheral blood lymphocytes from the patients and controls. This test enabled the evaluation of DNA damage in cells exposed to hydrogen peroxide alone and in the combination with the endonuclease III (Nth). The results of the analysis of polymorphism were statistically examination by calculating the odds ratio (OR) and their 95% confidence intervals (95% CI) using the ¤ç2-tests. Our data indicate that patients with diabetes mellitus type 2 (including those with neuropathy) had higher frequencies of the XRCC1 399Arg/Gln polymorphism in homozygote (GG) (OR: 1.85 [95% CI: 1.07-3.22], P=0.3) and also increased frequency of 399Gln (G) allele (OR: 1.38 [95% CI: 1.03-1.83], P=0.3). No relation to other polymorphisms with increased risk of diabetes or diabetic neuropathy. In T2DM patients complicated by neuropathy, there was less efficient repair of oxidative DNA damage induced by hydrogen peroxide in both the presence and absence of the Nth enzyme. The results of our study suggest that the XRCC1 399 Arg/Gln polymorphism is a significant risk factor of T2DM in Polish population. Obtained data suggest a decreased efficiency of DNA repair in cells from patients with diabetes and neuropathy may be associated with oxidative stress. Additionally, patients with neuropathy are characterized by even greater sensitivity to oxidative damage than patients with diabetes, which suggests participation of free radicals in the pathogenesis of neuropathy.

Keywords: Diabetic neuropathy, oxidative stress, gene polymorphisms, oxidative DNA damage.

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2 Association between Single Nucleotide Polymorphism of Calpain1 Gene and Meat Tenderness Traits in Different Genotypes of Chicken: Malaysian Native and Commercial Broiler Line

Authors: Abtehal Y. Anaas, Mohd. Nazmi Bin Abd. Manap

Abstract:

Meat Tenderness is one of the most important factors affecting consumers' assessment of meat quality. Variation in meat tenderness is genetically controlled and varies among breeds, and it is also influenced by environmental factors that can affect its creation during rigor mortis and postmortem. The final postmortem meat tenderization relies on the extent of proteolysis of myofibrillar proteins caused by the endogenous activity of the proteolytic calpain system. This calpain system includes different calcium-dependent cysteine proteases, and an inhibitor, calpastatin. It is widely accepted that in farm animals including chickens, the μ-calpain gene (CAPN1) is a physiological candidate gene for meat tenderness. This study aimed to identify the association of single nucleotide polymorphism (SNP) markers in the CAPN1 gene with the tenderness of chicken breast meat from two Malaysian native and commercial broiler breed crosses. Ten, five months old native chickens and ten, 42 days commercial broilers were collected from the local market and breast muscles were removed two hours after slaughter, packed separately in plastic bags and kept at -20ºC for 24 h. The tenderness phenotype for all chickens’ breast meats was determined by Warner-Bratzler Shear Force (WBSF). Thawing and cooking losses were also measured in the same breast samples before using in WBSF determination. Polymerase chain reaction (PCR) was used to identify the previously reported C7198A and G9950A SNPs in the CAPN1 gene and assess their associations with meat tenderness in the two breeds. The broiler breast meat showed lower shear force values and lower thawing loss rates than the native chickens (p<0.05), whereas there were similar in the rates of cooking loss. The study confirms some previous results that the markers CAPN1 C7198A and G9950A were not significantly associated with the variation in meat tenderness in chickens. Therefore, further study is needed to confirm the functional molecular mechanism of these SNPs and evaluate their associations in different chicken populations.

Keywords: CAPNl, chicken, meat tenderness, meat quality, SNPs.

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1 Genetic Polymorphism of the Acute Lymphoblastic Leukaemia and Hyperhomocysteinemia its Relation with the for a Group of Children in the East of Algeria

Authors: Yahia Massinissa, Kalla A, Yahia M, Benbia S

Abstract:

A lot of recent research have spoken on the relation between the increase of the homocysteinemia and some kinds of cancer . For that, our study was based on the research of a possible relation between the increase of the concentration of this amino-acid in the plasma and the appearance of the disease of the Acute Lymphoblastic Leukaemia in a part of Algerian children with Berber origin in the East of Algeria . The study has done on 47 ill persons with an average age of (09±06 ) years , with whom the disease has diagnosed by blood and marrow examination in the hospital of blood diseases in the CHU of Batna, and on 194 healthy witnesses of the same age. The two groups were benefited by a dosage of the concentration of the homocysteine vitamin B9 ,vitamin B12 , and also of the study of special polymorphisms of indispensable enzymes in the metabolism of this acid , and that by the use of the method ( Light cycler ) Real time PCR , on the following enzymes : MS ( C2756G ), MSR ( A66G ) ,MTHFR1 ( C677T ) and MTHFR2 (A1298C). The obtained results have revealed that the rate of the homozygote muted genotype is the less frequent in the two groups , and that exist at list one genotype of each enzyme in the ill group and in which the percentage exceed with remarkable way the same genotype in the healthy group and we notice specially the muted genotype GG of -the methionine synthetase-and the form TT of the enzyme – methyline tetra hydrofolate reductase – We notice the existence of considerable number of genotypes in the ill group lied with characteristic increase of this Amino-acid ,and that for the reduction of the biologic activity of these enzymes which become inefficient in the transfer of the homocysteine into the methionine and cause the diminution of the biologic activity of these enzymes and with consequence the reduction of the percentage of methylic radicals in the DNA of studied genes and that lead to the increase of the activity and the capacity of transcription , and it-s so probably that this last one is one of the factors of this disease especially if we know that the specific check-up of vitamins is normal and similar in the two groups , which ovoid the hypothesis of the reduction of vitamins . We notice also that the heterozygote genotype is the less in the sick category except the MTHFR2. Wild genotype is more frequent in the witness group except MSR. Even these results are partials; they open a new way in the genetic diagnosis of this malicious disease which allow a precocious diagnosis and the use of an effective and appropriated treatment in the same time.

Keywords: Genetic polymorphism, Acute Lymphoblastic Leukaemia, Biomarkers, Metabolism of homocystein

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