Search results for: genetic polymorphism

Authors: Amy Gooden, Meshandren Naidoo

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Genetic research and transfers of big data are not confined to a particular jurisdiction, but there is a lack of clarity regarding the legal requirements for importing and exporting such data. Using direct-to-consumer genetic testing (DTC-GT) as an example, this research assesses the status of data sharing into and out of South Africa (SA). While SA laws cover the sending of genetic data out of SA, prohibiting such transfer unless a legal ground exists, the position where genetic data comes into the country depends on the laws of the country from where it is sent – making the legal position less clear.

Keywords: cross-border, data, genetic testing, law, regulation, research, sharing, South Africa

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Authors: Alexis John de Britto

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Studies were performed to select the superior genotypes based on intra-specific variations, caused by phytogeographical, climatic and edaphic parameters of three anti cancer drug yielding mangrove plants such as Acanthus ilicifolius L., Calophyllum inophyllum L. and Excoecaria agallocha L. using ISSR (Inter Simple Sequence Repeats) markers and phytochemical analysis such as preliminary phytochemical tests, TLC, HPTLC, HPLC and antioxidant tests. The plants were collected from five different geographical locations of the East Coast of south India. Genetic heterozygosity, Nei’s gene diversity, Shannon’s information index and Percentage of polymorphism between the populations were calculated using POPGENE software. Cluster analysis was performed using UPGMA algorithm. AMOVA and correlations between genetic diversity and soil factors were analyzed. Combining the molecular and phytochemical variations superior genotypes were selected. Conservation constraints and methods of efficient exploitation of the species are discussed.

Keywords: anti-cancer drug yielding plants, DNA fingerprinting, phytochemical analysis, selection of superior genotypes

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Authors: Amanda J. Burridge, Keith J. Edwards, Paul A. Wilkinson, Tom Batstone, Erik H. Murchie, Lorna McAusland, Ana Elizabete Carmo-Silva, Ivan Jauregui, Tracy Lawson, Silvere R. M. Vialet-Chabrand

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The rate of genetic progress in wheat production must be improved to meet global food security targets. However, past selection for domestication traits has reduced the genetic variation in modern wheat cultivars, a fact that could severely limit the future rate of genetic gain. The genetic variation in agronomically important traits for the wild relatives and progenitors of wheat is far greater than that of the current domesticated cultivars, but transferring these traits into modern cultivars is not straightforward. Between the elite cultivars of wheat, photosynthetic capacity is a key trait for which there is limited variation. Early screening of wheat wild relative and progenitors has shown differences in photosynthetic capacity and efficiency not only between wild relative species but marked differences between the accessions of each species. By identifying wild relative accessions with improved photosynthetic traits and characterising the genetic variation responsible, it is possible to incorporate these traits into advanced breeding programmes by wide crossing and introgression programmes. To identify the potential variety of photosynthetic capacity and efficiency available in the secondary and tertiary genepool, a wide scale survey was carried out for over 600 accessions from 80 species including those from the genus Aegilops, Triticum, Thinopyrum, Elymus, and Secale. Genotype data were generated for each accession using a ‘Wheat Wild Relative’ Single Nucleotide Polymorphism (SNP) genotyping array composed of 35,000 SNP markers polymorphic between wild relatives and elite hexaploid wheat. This genotype data was combined with phenotypic measurements such as gas exchange (CO₂, H₂O), chlorophyll fluorescence, growth, morphology, and RuBisCO activity to identify potential breeding material with enhanced photosynthetic capacity and efficiency. The data and associated analysis tools presented here will prove useful to anyone interested in increasing the genetic diversity in hexaploid wheat or the application of complex genotyping data to plant breeding.

Keywords: wheat, wild relatives, pre-breeding, genomics, photosynthesis

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Authors: Faheema Khan

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In order to investigate the influence of genetic background on salt tolerance in Soybean (Glycine max) ten soybean genotypes released/notified in India were selected. (Pusa-20, Pusa-40, Pusa-37, Pusa-16, Pusa-24, Pusa-22, BRAGG, PK-416, PK-1042, and DS-9712). The 10-day-old seedlings were subjected to 0, 25, 50, 75, 100, 125, and 150 mM NaCl for 15 days. Plant growth, leaf osmotic adjustment, and RAPD analysis were studied. In comparison to control plants, the plant growth in all genotypes was decreased by salt stress, respectively. Salt stress decreased leaf osmotic potential in all genotypes however the maximum reduction was observed in genotype Pusa-24 followed by PK-416 and Pusa-20. The difference in osmotic adjustment between all the genotypes was correlated with the concentrations of ion examined such as Na+ and the leaf proline concentration. These results suggest that the genotypic variation for salt tolerance can be partially accounted for by plant physiological measures. The genetic polymorphisms between soybean genotypes differing in response to salt stress were characterized using 25 RAPD primers. These primers generated a total of 1640 amplification products, among which 1615 were found to be polymorphic. A very high degree of polymorphism (98.30%) was observed. UPGMA cluster analysis of genetic similarity indices grouped all the genotypes into two major clusters. Intra-clustering within the two clusters precisely grouped the 10 genotypes in sub-cluster as expected from their physiological findings. Our results show that RAPD technique is a sensitive, precise and efficient tool for genomic analysis in soybean genotypes.

Keywords: glycine max, NaCl, RAPD, proteomics

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Authors: Ju-Chun Chien

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The Ottawa Charter for Health Promotion proposed that the role of health services should shift the focus from cure to prevention. Nowadays, besides having physical examinations, people could also conduct genetic tests to provide important information for diagnosing, treating, and/or preventing illnesses. However, because of the incompletion of the Chinese Genetic Database, people in Taiwan were still unfamiliar with genetic testing. The purposes of the present study were to: (1) Figure out people’s attitudes towards genetic testing. (2) Examine factors that influence people’s intention to pursue genetic testing by means of the Health Belief Model (HBM). A pilot study was conducted on 249 Taiwanese in 2017 to test the feasibility of the self-developed instrument. The reliability and construct validity of scores on the self-developed questionnaire revealed that this HBM-based questionnaire with 40 items was a well-developed instrument. A total of 542 participants were recruited and the valid participants were 535 (99%) between the ages of 20 and 86. Descriptive statistics, one-way ANOVA, two-way contingency table analysis, Pearson’s correlation, and stepwise multiple regression analysis were used in this study. The main results were that only 32 participants (6%) had already undergone genetic testing; moreover, their attitude towards genetic testing was more positive than those who did not have the experience. Compared with people who never underwent genetic tests, those who had gone for genetic testing had higher self-efficacy, greater intention to pursue genetic testing, had academic majors in health-related fields, had chronic and genetic diseases, possessed Catastrophic Illness Cards, and all of them had heard about genetic testing. The variables that best predicted people’s intention to pursue genetic testing were cues to action, self-efficacy, and perceived benefits (the three variables all correlated with one another positively at high magnitudes). To sum up, the HBM could be effective in designing and identifying the needs and priorities of the target population to pursue genetic testing.

Keywords: genetic testing, knowledge of GT, people in Taiwan, the health belief model

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Authors: Ebtissam Saleh Al-Meghaiseeb, Abdulaziz Al Masood, Abdulrahman Al-Robayan, Reem Al-Amro, Misbahul Arfin, Abdulrahman Al Asmari

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Objective: The objective of this study was to evaluate the role of apolipoprotein E (APOE) polymorphism on the onset of inflammatory bowel disease (IBD) in Saudi patients. Methods: APOE gene was genotyped to evaluate the frequencies of the alleles and genotypes in Saudi subjects, including IBD patients (n=200) and matched controls (n=200), using APOE StripAssayTM kit (ViennaLab Labordiagnostika GmbH, Vienna, Austria). Results: The frequencies of alleles and genotypes of APOE differed in patients and controls. The APOE allele ε2 and ε4, genotype ε2/ε3 and ε2/ε4 were significantly higher in the IBD patients than the healthy controls. The frequencies of ε3 allele and ε3/ε3 genotype were higher in the control group as compared to patients. The higher prevalence of allele ε2 and ε4 allele in patients compared to that in controls suggested that ε2 and ε4 alleles may increase the risk of IBD. Results also indicated that APOE ε4 allele was associated with early age at onset of IBD. On the other hand, the decreased frequencies of ε3 allele and ε3/ε3 genotype in patients as compared to those in the controls suggested a protective effect of APOE ε3 for IBD susceptibility. In this study, the frequency distribution of APOE alleles and genotypes was not affected by the gender or type of IBD (familial or sporadic). Conclusion: This study indicates that APOE polymorphism plays a significant role in developing IBD and early age of onset in Saudi patients. However, further studies with large-size sample are warranted to confirm this relationship.

Keywords: APOE, polymorphism, IBD, saudis

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Authors: K. A. Gladkova, N. P. Babushkina, E. Y. Bragina

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Purpose: Tuberculosis (TB), caused by Mycobacterium tuberculosis, is one of the major public health problems worldwide. It is clear that the immune response to M. tuberculosis infection is a relationship between inflammatory and anti-inflammatory responses in which Tumour Necrosis Factor-α (TNF-α) plays key roles as a pro-inflammatory cytokine. TNF-α involved in various cell immune responses via binding to its two types of membrane-bound receptors, TNFRSF1A and TNFRSF1B. Importantly, some variants of the TNFRSF1B gene have been considered as possible markers of host susceptibility to TB. However, the possible impact of such TNF-α and its receptor genes polymorphism on TB cases in Tomsk is missing. Thus, the purpose of our study was to investigate polymorphism of TNF-α (rs1800629) and its receptor TNFRSF1B (rs652625 and rs525891) genes in population of Tomsk and to evaluate their possible association with the development of pulmonary TB. Materials and Methods: The population distribution features of genes polymorphisms were investigated and made case-control study based on group of people from Tomsk. Human blood was collected during routine patients examination at Tomsk Regional TB Dispensary. Altogether, 234 TB-positive patients (80 women, 154 men, average age is 28 years old) and 205 health-controls (153 women, 52 men, average age is 47 years old) were investigated. DNA was extracted from blood plasma by phenol-chloroform method. Genotyping was carried out by a single-nucleotide-specific real-time PCR assay. Results: First, interpopulational comparison was carried out between healthy individuals from Tomsk and available data from the 1000 Genomes project. It was found that polymorphism rs1800629 region demonstrated that Tomsk population was significantly different from Japanese (P = 0.0007), but it was similar with the following Europeans subpopulations: Italians (P = 0.052), Finns (P = 0.124) and British (P = 0.910). Polymorphism rs525891 clear demonstrated that group from Tomsk was significantly different from population of South Africa (P = 0.019). However, rs652625 demonstrated significant differences from Asian population: Chinese (P = 0.03) and Japanese (P = 0.004). Next, we have compared healthy individuals versus patients with TB. It was detected that no association between rs1800629, rs652625 polymorphisms, and positive TB cases. Importantly, AT genotype of polymorphism rs525891 was significantly associated with resistance to TB (odds ratio (OR) = 0.61; 95% confidence interval (CI): 0.41-0.9; P < 0.05). Conclusion: To the best of our knowledge, the polymorphism of TNFRSF1B (rs525891) was associated with TB, while genotype AT is protective [OR = 0.61] in Tomsk population. In contrast, no significant correlation was detected between polymorphism TNF-α (rs1800629) and TNFRSF1B (rs652625) genes and alveolar TB cases among population of Tomsk. In conclusion, our data expands the molecular particularities associated with TB. The study was supported by the grant of the Russia for Basic Research #15-04-05852.

Keywords: polymorphism, tuberculosis, TNF-α, TNFRSF1B gene

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Authors: Heba Esaily, Rawhia Eledl, Daila Aboelela, Rasha Noreldin

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Objective: Assess serum level of Transforming growth factor beta 2 (TGF-β2) and Matrilin-3 (MATN3) SNP6 polymorphism in osteoarthritic patients Background: Osteoarthritis (OA) is a musculoskeletal disease characterized by pain and joint stiffness. TGF-β 2 is involved in chondrogenesis and osteogenesis, It has found that MATN3 gene and protein expression was correlated with the extent of tissue damage in OA. Findings suggest that regulation of MATN3 expression is essential for maintenance of the cartilage extracellular matrix microenvironment Subjects and Methods: 72 cases of primary OA (56 with knee OA and 16 with generalized OA were compared with that of 18 healthy controls. Radiographs were scored with the Kellgren-Lawrence scale. Serum TGF-β2 was measured by using (ELISA), levels of marker were correlated to radiographic grading of disease and MATN3 SNP6 polymorphism was determined by (PCR-RFLP). Results: MATN3 SNP6 polymorphism and serum level of TGF-β2 were higher in OA compared with controls. Genotype, NN and N allele frequency were higher in patients with OA compared with controls. NN genotype and N allele frequency were higher in knee osteoarthritis than generalized OA. Significant positive correlation between level of TGFβ2 and radiographic grading in group with knee OA, but no correlation between serum level of TGFβ2 and radiographic grading in generalized OA. Conclusion: MATN3 SNP6 polymorphism and TGF-β2 implicated in the pathogenesis of osteoarthritis. Association of N/N genotype with primary osteoarthritis emphasizes on the need for prospective study include larger sample size to confirm the results of the present study.

Keywords: Matrilin-3, transforming growth factor beta 2, primary osteoarthritis, knee osteoarthritis

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Authors: Loubna Safar, Lama Youssef, Majd Aljamali

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Age-related macular degeneration (AMD) is one of the leading causes of blindness worldwide. Complement factor H polymorphism (Y402H) is thought to play a potential role in the predisposition to AMD and response of patients with exudative AMD to treatment with anti-Vascular Endothelial Growth Factor (anti-VEGF). This study aimed to investigate the frequency of Y402H among Syrians, its impact on their susceptibility to AMD, and the hypothesized role of Y402H in patients' response to intravitreal anti-VEGF (i.e.,, bevacizumab). Our case-control study encompassed unrelated 54 AMD cases and 44 controls. Genotyping was determined by standard sequencing of PCR products. Frequency was compared between patients and controls, and correlation between genotype and response to treatment was assessed in 20 patients with wet AMD who received a therapeutic course of three intravitreal bevacizumab injections (once monthly). Our results revealed a significantly higher prevalence of the risk allele C among AMD cases (51.9%) in comparison with controls (37.5%) (P= 0.04, OR= 1.386, CI= 0.999- 1.923). Patients with the TT genotype (no risk allele) exhibited a significantly better primary response rate, reached 87.5% compared to only 41.7% in patients carrying the risk allele C (TC + CC), (P= 0.04, OR= 9.8, CI=0.899- 106.84). The findings of this study prove the importance of investigating Y402H polymorphism as a prognostic marker for predicting response to bevacizumab in AMD patients.

Keywords: age-related macular degeneration, bevacizumab, complement factor H gene, polymorphism, Y402H

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Authors: Sonia Tamanna, Akramul Hassan, Mohammad Shakil Mahmood, Farzana Ansari, Gowhar Rashid, Mir Fahim Faisal, M. Zakir Hossain Howlader

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Background: Preeclampsia (PE), a pregnancy-specific hypertensive disorder, significantly impacts maternal and fetal health. It is particularly prevalent in underdeveloped countries and is linked to preterm delivery and fetal growth. The renin-angiotensin system (RAS) plays a crucial role in ensuring a successful pregnancy outcome, with Angiotensin-Converting Enzyme 2 (ACE2) being a key component. ACE2 converts ANG II to Ang-(1-7), offering protection against ANG II-induced stress and inflammation while regulating blood pressure and osmotic balance during pregnancy. The reduced maternal plasma angiotensin-converting enzyme 2 (ACE2) seen in preeclampsia might contribute to its pathogenesis. However, there has been a dearth of comprehensive research into the association between ACE2 gene polymorphism and preeclampsia. In the South Asian population, hypertension is strongly linked to two SNPs: rs2285666 and rs879922. This genotype was therefore considered, and the possible association of maternal and fetal ACE2 gene polymorphism with preeclampsia within the Bangladeshi population was evaluated. Method: DNA was extracted from peripheral white blood cells (WBCs) using the organic method, and SNP genotyping was done via PCR-RFLP. Odds ratios (OR) with 95% confidence intervals (95% CI) were calculated using logistic regression to determine relative risk. Result: A comprehensive case-control study was conducted on 51 PE patients and their infants, along with 56 control subjects and their infants. Maternal single nuvleotide polymorphisms (SNP) (rs2285666) analysis revealed a strong association between the TT genotype and preeclampsia, with a four-fold increased risk in mothers (P=0.024, OR=4.00, 95% CI=1.36-11.37) compared to their ancestral genotype CC. However, the CT genotype (rs2285666) showed no significant difference (P=0.46, OR=1.54, 95% CI=0.57-4.14). Notably, no significant correlation was found in infants, regardless of their gender. For rs879922, no significant association was observed in both mothers and infants. This pioneering study suggests that mothers carrying the ACE2 gene variant rs2285666 (TT allele) may be at higher risk for preeclampsia, potentially influencing hypertension characteristics, whereas rs879922 does not appear to be associated with developing preeclampsia. Conclusion: This study sheds light on the role of ACE2 gene polymorphism, particularly the rs2285666 TT allele, in maternal susceptibility to preeclampsia. However, rs879922 does not appear to be linked to the risk of PE. This research contributes to our understanding of the genetic underpinnings of preeclampsia, offering insights into potential avenues for prevention and management.

Keywords: ACE2, PCR-RFLP, preeclampsia, single nuvleotide polymorphisms (SNPs)

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Authors: Li Dan, Zhao Junsuo, Zhang Wenjun

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Aiming at the shortcomings of the Quantum Genetic Algorithm such as the multimodal function optimization problems easily falling into the local optimum, and vulnerable to premature convergence due to no closely relationship between individuals, the paper presents an Improved Many Worlds Quantum Genetic Algorithm (IMWQGA). The paper using the concept of Many Worlds; using the derivative way of parallel worlds’ parallel evolution; putting forward the thought which updating the population according to the main body; adopting the transition methods such as parallel transition, backtracking, travel forth. In addition, the algorithm in the paper also proposes the quantum training operator and the combinatorial optimization operator as new operators of quantum genetic algorithm.

Keywords: quantum genetic algorithm, many worlds, quantum training operator, combinatorial optimization operator

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Authors: P. M. Sreekanth

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Teak (Tectona grandis L. f.) is a tree species indigenous to India and other Southeastern countries. It produces high-value timber and is easily established in plantations. Reforestation requires a constant supply of high quality seeds. Seed Production Areas (SPA) of teak are improved stands used for collection of open-pollinated quality seeds in large quantities. Information on the genetic diversity of major teak SPAs in India is scanty. The genetic structure of four important seed production areas of Kerala State in Southern India was analyzed employing amplified fragment length polymorphism markers using ten selective primer combinations on 80 samples (4 populations X 20 trees). The study revealed that the gene diversity of the SPAs varied from 0.169 (Konni SPA) to 0.203 (Wayanad SPA). The percentage of polymorphic loci ranged from 74.42 (Parambikulam SPA) to 84.06 (Konni SPA). The mean total gene diversity index (HT) of all the four SPAs was 0.2296 ±0.02. A high proportion of genetic diversity was observed within the populations (83%) while diversity between populations was lower (17%) (GST = 0.17). Principal coordinate analysis and STRUCTURE analysis of the genotypes indicated that the pattern of clustering was in accordance with the origin and geographic location of SPAs, indicating specific identity of each population. A UPGMA dendrogram was prepared and showed that all the twenty samples from each of Konni and Parambikulam SPAs clustered into two separate groups, respectively. However, five Nilambur genotypes and one Wayanad genotype intruded into the Konni cluster. The higher gene flow estimated (Nm = 2.4) reflected the inclusion of Konni origin planting stock in the Nilambur and Wayanad plantations. Evidence for population structure investigated using 3D Principal Coordinate Analysis of FAMD software 1.30 indicated that the pattern of clustering was in accordance with the origin of SPAs. The present study showed that assessment of genetic diversity in seed production plantations can be achieved using AFLP markers. The AFLP fingerprinting was also capable of identifying the geographical origin of planting stock and there by revealing the occurrence of the errors in genotype labeling. Molecular marker-based selective culling of genetically similar trees from a stand so as to increase the genetic base of seed production areas could be a new proposition to improve quality of seeds required for raising commercial plantations of teak. The technique can also be used to assess the genetic diversity status of plus trees within provenances during their selection for raising clonal seed orchards for assuring the quality of seeds available for raising future plantations.

Keywords: AFLP, genetic structure, spa, teak

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Authors: Irina S. Burashnikova, Dmitriy A. Sychev, Ruslan Y. Kazakov

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Сytochrome P450 CYP2D6 activity affects antipsychotic therapy safety. CYP2D6*4 polymorphism frequency varies among different ethnic groups. We studied CYP2D6*4 polymorphism frequency in Tatar and Russian schizophrenic patients and association of CYP2D6*4 polymorphism and extrapyramidal disorders (EPD) frequency in schizophrenic patients on haloperidol monotherapy in daily doses up to 20 mg. Results: Heterozygous CYP2D6*4 allele carrier frequency among Tatars was lower (23.8% vs 32.4% in Russians), but the differences did not reach statistical significance. CYP2D6*4 allele frequency among Tatars was also lower (11.9% vs 24.3% in Russians), but the difference was not quite significant (p=0.0592). Average daily haloperidol dose in the group without EPD was significantly higher than in the group with EPD (11.35±4.6 vs 13.87±3.3 mg, p=0.0252), but average daily haloperidol dose/weight ratios in the compared groups had no significant differences. Statistically significant association between EPD development and heterozygous CYP2D6*1/*4 genotype and CYP2D6*4 allele carrier frequency was revealed among all schizophrenic patients and among those of Tatar nationality. Further well designed pharmacogenetic studies in different Russian regions are needed to improve psychotropic therapy safety and to establish evidence-based indications for pharmacogenetic testing in clinical practice.

Keywords: antipsychotic, CYP2D6 polymorphism, ethnic differences of CYP2D6*4 allele frequency, extrapyramidal side effects/disorder, schizophrenia, pharmacogenetics, Russians, Tatars

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Authors: Swati Gautam, Salman Akhtar, S. P. Jaiswar, Amita Jain

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Background: FGTB is now a major global health problem mostly in developing countries including India. In humans, Mycobacterium Tuberculosis (M.tb) is a causating agent of infection. High index of suspicion is required for early diagnosis due to asymptomatic presentation of FGTB disease. In macrophages Toll Like Receptor-2 (TLR-2) is one which mediated host’s immune response to M.tb. The expression of TLR-2 on macrophages is important to determine the fate of innate immune responses to M.tb. TLR-2 have two work. First its high expression on macrophages worsen the outer of infection and another side, it maintains M.tb to its dormant stage avoids activation of M.tb from latent phase. Single Nucleotide Polymorphism (SNP) of TLR-2 gene plays an important role in susceptibility to TB among different populations and subsequently, in the development of infertility. Methodology: This Case-Control study was done in the Department of Obs and Gynae and Department of Microbiology at King George’s Medical University, U.P, Lucknow, India. Total 300 subjects (150 Cases and 150 Controls) were enrolled in the study. All subjects were enrolled only after fulfilling the given inclusion and exclusion criteria. Inclusion criteria: Age 20-35 years, menstrual-irregularities, positive on Acid-Fast Bacilli (AFB), TB-PCR, (LJ/MGIT) culture in Endometrial Aspiration (EA). Exclusion criteria: Koch’s active, on ATT, PCOS, and Endometriosis fibroid women, positive on Gonococal and Chlamydia. Blood samples were collected in EDTA tubes from cases and healthy control women (HCW) and genomic DNA extraction was carried out by salting-out method. Genotyping of TLR2 genetic variants (Arg753Gln and Arg677Trp) were performed by using single amplification refractory mutation system (ARMS) PCR technique. PCR products were analyzed by electrophoresis on 1.2% agarose gel and visualized by gel-doc. Statistical analysis of the data was performed using the SPSS 16.3 software and computing odds ratio (OR) with 95% CI. Linkage Disequiliribium (LD) analysis was done by SNP stats online software. Results: In TLR-2 (Arg753Gln) polymorphism significant risk of FGTB observed with GG homozygous mutant genotype (OR=13, CI=0.71-237.7, p=0.05), AG heterozygous mutant genotype (OR=13.7, CI=0.76-248.06, p=0.03) however, G allele (OR=1.09, CI=0.78-1.52, p=0.67) individually was not associated with FGTB. In TLR-2 (Arg677Trp) polymorphism a significant risk of FGTB observed with TT homozygous mutant genotype (OR= 0.020, CI=0.001-0.341, p < 0.001), CT heterozygous mutant genotype (OR=0.53, CI=0.33-0.86, p=0.014) and T allele (OR=0.463, CI=0.32-0.66, p < 0.001). TT mutant genotype was only found in FGTB cases and frequency of CT heterozygous more in control group as compared to FGTB group. So, CT genotype worked as protective mutation for FGTB susceptibility group. In haplotype analysis of TLR-2 genetic variants, four possible combinations, i.e. (G-T, A-C, G-C, and A-T) were obtained. The frequency of haplotype A-C was significantly higher in FGTB cases (0.32). Control group did not show A-C haplotype and only found in FGTB cases. Conclusion: In conclusion, study showed a significant association with both genetic variants of TLR-2 of FGTB disease. Moreover, the presence of specific associated genotype/alleles suggest the possibility of disease severity and clinical approach aimed to prevent extensive damage by disease and also helpful for early detection of disease.

Keywords: ARMS, EDTA, FGTB, TLR

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Authors: G. Blanco-Lizana, C. García-Fernández, J. A. Sánchez

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Growth is a productive trait regulated by a large and complex gene network with very different effect. Some of they (candidate genes) have a higher effect and are excellent resources to search in them polymorphisms correlated with differences in growth rates. This study was focused on the identification of single nucleotide polymorphism (SNP) in MyoD-1 and MyoD-2 genes, members of the family of myogenic regulatory genes with a key role in the differentiation and development of muscular tissue.(MFRs), and its evaluation as potential markers in genetic selection programs for growth in gilthead sea bream (Sparus aurata). Through a sequencing in 30 seabream (classified as unrelated by microsatellite markers) of 1.968bp in MyoD-1 gene [AF478568 .1] and 1.963bp in MyoD-2 gene [AF478569.1], three SNPs were identified in each gene (SaMyoD-1 D2100A (D indicate a deletion) SaMyoD-1 A2143G and SaMyoD-1 A2404G and SaMyoD-2_A785C, SaMyoD-2_C1982T and SaMyoD-2_A2031T). The relationships between SNPs and body weight were evaluated by SNP genotyping of 53 breeders from two broodstocks (A:18♀-9♂; B:16♀-10♂) and 389 offspring divided into two groups (slow- and fast-growth) with significant differences in growth at 18 months of development (A18Slow: N=107, A18Fast: N=103, B18Slow: N=92 and B18Fast: N=87) (Borrell et al., 2011). Haplotype and diplotype were reconstructed from genotype data by Phase 2.1 software. Differences among means of different diplotypes were calculated by one-way ANOVA followed by post-hoc Tukey test. Association analysis indicated that single SNP did not show significant effect on body weight. However, when the analysis is carried out considering haplotype data it was observed that the DGG haplotipe of MyoD-1 gen and CCA haplotipe of MyoD- 2gen were associated to with lower body weight. This haplotype combination always showed the lowest mean body weight (P<0.05) in three (A18Slow, A18Fast & B18Slow) of the four groups tested. Individuals with DGG haplotipe of MyoD-1 gen have a 25,5% and those with CCA haplotipe of MyoD- 2gen showed 14-18% less on mean body weight. Although further studies are need to validate the role of these 3 SNPs as marker for body weight, the polymorphism-trait association established in this work create promising expectations on the use of these variants as genetic tool for future giltead seabream breeding programs.

Keywords: growth, MyoD-1 and MyoD-2 genes, selective breeding, SNP-haplotype

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Authors: Masoud Sheidaei, Fahimeh Koohdar

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Date palms are economically important tree plants with high nutrition and medicinal values. More than 400 date palm cultivars are cultivated in many regions of Iran, but no report is available on landscape genetics and species distribution modeling of these trees from the country. Therefore, the present study provides a detailed insight into the genetic diversity and structure of date palm populations in Iran and investigates the effects of geographical and climatic variables on the structuring of genetic diversity in them. We used different computational methods in the study like, spatial principal components analysis (sPCA), redundancy analysis (RDA), latent factor mixed model (LFMM), and Maxent and Dismo models of species distribution modeling. We used a combination of different molecular markers for this study. The results showed that both global and local spatial features play an important role in the genetic structuring of date palms, and the genetic regions associated with local adaptation and climatic variables were identified. The effects of climatic change on the distribution of these taxa and the genetic regions adaptive to these changes will be discussed.

Keywords: adaptive genetic regions, genetic diversity, isolation by distance, populations divergence

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Authors: Savjot Kaur, Mridula Mahajan, AJS Bhanwer, Santokh Singh, Kawaljit Matharoo

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Background: Disorders of lipid metabolism and genetic predisposition are CAD risk factors. ApoA1 is the apolipoprotein component of anti-atherogenic high density lipoprotein (HDL) particles. The protective action of HDL and ApoA1 is attributed to their central role in reverse cholesterol transport (RCT). Aim: This study was aimed at identifying sequence variations in ApoA1 (-75G>A) and its association with serum ApoA1 levels. Methods: A total of 300 CAD patients and 300 Normal individuals (controls) were analyzed. PCR-RFLP method was used to determine the DNA polymorphism in the ApoA1 gene, PCR products digested with restriction enzyme MspI, followed by Agarose Gel Electrophoresis. Serum apolipoprotein A1 concentration was estimated with immunoturbidimetric method. Results: Deviation from Hardy- Weinberg Equilibrium (HWE) was observed for this gene variant. The A- allele frequency was higher among Coronary Artery disease patients (53.8) compared to controls (45.5), p= 0.004, O.R= 1.38(1.11-1.75). Under recessive model analysis (AA vs. GG+GA) AA genotype of ApoA1 G>A substitution conferred ~1 fold increased risk towards CAD susceptibility (p= 0.002, OR= 1.72(1.2-2.43). With serum ApoA1 levels < 107 A allele frequency was higher among CAD cases (50) as compared to controls (43.4) [p=0.23, OR= 1.2(0.84-2)] and there was zero % occurrence of A allele frequency in individuals with ApoA1 levels > 177. Conclusion: Serum ApoA1 levels were associated with ApoA1 promoter region variation and influence CAD risk. The individuals with the APOA1 -75 A allele confer excess hazard of developing CAD as a result of its effect on low serum concentrations of ApoA1.

Keywords: apolipoprotein A1 (G>A) gene polymorphism, coronary artery disease (CAD), reverse cholesterol transport (RCT)

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Authors: C. Kridtayopas, W. Danvilai, P. Sopannarath, A. Kayan, W. Loongyai

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Both Betong chicken (KU Line) and Thai Native chickens were the high quality of the meat and low carcass fat compared to broiler chickens. The objective of this study was to determine the growth performance, carcass characteristic, meat quality and association of polymorphism in the ApoVLDL-II gene with fat accumulation in the female broiler, Thai Native and Betong (KU line) chickens at 4-14 weeks. The chickens were used and reared under the same environment and management (100 chicks per breed). The results showed that body weight (BW) of broiler chickens was significantly higher than Thai Native and Betong (KU line) chickens (P < 0.01) through all the experiment. At 4-8 weeks of age, feed conversion ratio (FCR) of broiler chickens was significantly better than Thai Native and Betong (KU line) chickens (P < 0.01), then increased at week 8-14. The percentage of breast, abdominal fat and subcutaneous fat of broiler chickens was significantly greater than Thai Native and Betong (KU line) chickens (P < 0.01). However, Thai Native chickens showed the highest percentage of liver (P < 0.01) when compared to other breeds. In addition, the percentage of wing of Thai Native and Betong (KU line) chickens were significantly (P < 0.01) higher than broiler chickens. Meat quality was also determined and found that, pH of breast meat left from slaughter 45 minutes (pH45) and 24 hours (pH24) of broiler was significantly higher than Thai Native and Betong (KU line) (P < 0.01) whereas the percentage of drip loss, thawing loss, cooking loss and shear force was not significantly different between breeds. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to genotype the polymorphism in the ApoVLDL-II gene in the broiler, Thai Native and Betong (KU line) chickens. The results found that, the polymorphism in the ApoVLDL-II gene at VLDL6 loci was not associated with fat accumulation in those studied population.

Keywords: ApoVLDL-II gene, Betong (KU line) chickens, broiler chickens, carcass characteristic, growth performance, meat quality, Thai native chickens

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Authors: Abbas Mirakhorli

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A hub covering problem is a type of hub location problem that tries to maximize the coverage area with the least amount of installed hubs. There have not been many studies in the literature about multi-objective hubs covering location problems. Thus, in this paper, a bi-objective model for the hub covering problem is presented. The two objectives that are considered in this paper are the minimization of total transportation costs and the maximization of coverage of origin-destination nodes. A genetic algorithm is presented to solve the model when the number of nodes is increased. The genetic algorithm is capable of solving the model when the number of nodes increases by more than 20. Moreover, the genetic algorithm solves the model in less amount of time.

Keywords: facility location, hub covering, multi-objective optimization, genetic algorithm

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Authors: Nadir Ali Rind, Özlem Aksoy, Muhammad Umar Dahot, Salih Dikilitaş, Muhammad Rafiq, Burçak Tütünoğlu

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Melia azedarach L. is freshly fruited small to medium sized tree native to China and North western India. It is growing in Pakistan and Turkey in various areas facing great environmental changes to maintain its survival. The species is valued for its high quality wood, medicinal, ornamental and shade purposes. The present work was aimed to estimate the genetic variation among the populations of Melia azedarach L. leaf samples that were collected from five different locations of Turkey and three different areas of Pakistan. These populations were chosen on the random bases by applying RAPD primers in order to construct a dendogram using UPGMA method to show genetic diversity. After that appropriate conservation strategies were suggested. 14 primers producing polymorphic and monomorphic bands were analyzed. Genetic distances were calculated for all the species studied by RAPD-PCR methods. According to the results the lowest genetic identity values and the highest genetic polymorphic values were determined. It is observed that there was a clear split among populations from different areas in Turkey and Pakistan. These differences may be due to eco-geographical association with genetic variation and should be conserved to retain the genetic variation of the species.

Keywords: melia azedarach L., genetic diversity, conservation, RAPD-PCR, medicinal plant

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Authors: Jasbir Singh Gill, Baljit Singh

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Scheduling and mapping the application task graph on multiprocessor parallel systems is considered as the most crucial and critical NP-complete problem. Many genetic algorithms have been proposed to solve such problems. In this paper, two genetic approach based algorithms have been designed and developed with or without task duplication. The proposed algorithms work on two fitness functions. The first fitness i.e. task fitness is used to minimize the total finish time of the schedule (schedule length) while the second fitness function i.e. process fitness is concerned with allocating the tasks to the available highly efficient processor from the list of available processors (load balance). Proposed genetic-based algorithms have been experimentally implemented and evaluated with other state-of-art popular and widely used algorithms.

Keywords: parallel computing, task scheduling, task duplication, genetic algorithm

Procedia PDF Downloads 306

Authors: Ogbonnaya O. Iroanya, Samson T. Fakorede, Osamudiamen J. Edosa, Hadiat A. Azeez

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The human mitochondrial DNA (mtDNA) is about 17 kbp circular DNA fragments found within the mitochondria together with smaller fragments of 1200 bp known as the control region. Knowledge of variation within populations has been employed in forensic and molecular anthropology studies. The study was aimed at investigating the polymorphic nature of the two hypervariable segments (HVS) of the mtDNA, i.e., HVS1 and HVS2, and to determine the haplogroup distribution among individuals resident in Lagos, Southwestern Nigeria. Peripheral blood samples were obtained from sixty individuals who are not related maternally, followed by DNA extraction and amplification of the extracted DNA using primers specific for the regions under investigation. DNA amplicons were sequenced, and sequenced data were aligned and compared to the revised Cambridge Reference Sequence (rCRS) GenBank Accession number: NC_012920.1) using BioEdit software. Results obtained showed 61 and 52 polymorphic nucleotide positions for HVS1 and HVS2, respectively. While a total of three indels mutation were recorded for HVS1, there were seven for HVS2. Also, transition mutations predominate nucleotide change observed in the study. Genetic diversity (GD) values for HVS1 and HVS2 were estimated to be 84.21 and 90.4%, respectively, while random match probability was 0.17% for HVS1 and 0.89% for HVS2. The study also revealed mixed haplogroups specific to the African (L1-L3) and the Eurasians (U and H) lineages. New polymorphic sites obtained from the study are promising for human identification purposes.

Keywords: hypervariable region, indels, mitochondrial DNA, polymorphism, random match probability

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Authors: Arbnor Pajaziti, Hasan Cana

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In this paper, the structural genetic algorithm is used to optimize the neural network to control the joint movements of robotic arm. The robotic arm has also been modeled in 3D and simulated in real-time in MATLAB. It is found that Neural Networks provide a simple and effective way to control the robot tasks. Computer simulation examples are given to illustrate the significance of this method. By combining Genetic Algorithm optimization method and Neural Networks for the given robotic arm with 5 D.O.F. the obtained the results shown that the base joint movements overshooting time without controller was about 0.5 seconds, while with Neural Network controller (optimized with Genetic Algorithm) was about 0.2 seconds, and the population size of 150 gave best results.

Keywords: robotic arm, neural network, genetic algorithm, optimization

Procedia PDF Downloads 479

Authors: Doreen Duri, Danai Zhou, Babil Stray-Pedersen, Collet Dandara

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Given the high prevalence of HIV/AIDS in sub-Saharan Africa, and the elusive search for a cure, understanding the pharmacogenetics of currently used drugs is critical in populations from the most affected regions. Compared to Asian and Caucasian populations, African population groups are more genetically diverse, making it difficult to extrapolate findings from one ethnic group to another. This study aimed to investigate the role of genetic variation in CYP2B6 (c.516G>T and c.983T>C) single nucleotide polymorphisms on plasma nevirapine levels among HIV-infected adult Zimbabwean patients. Using a cross-sectional study, patients on nevirapine-containing HAART, having reached steady state (more than six weeks on treatment) were recruited to participate. Blood samples were collected after patients provided consent and samples were used to extract DNA for genetic analysis or to measure plasma nevirapine levels. Genetic analysis was carried out using PCR and RFLP or Snapshot for the two single nucleotide polymorphisms; CYP2B6 c.516G>T and c.983T>C, while LC-MS/MS was used in analyzing nevirapine concentration. CYP2B6 c.516G>T and c.983T>C significantly predicted plasma nevirapine concentration with the c.516T and c.983T being associated with elevated plasma nevirapine concentrations. Comparisons of the variant allele frequencies observed in this group to those reported in some African, Caucasian and Asian populations showed significant differences. We conclude that pharmacogenetics of nevirapine can be creatively used to determine patients who are likely to develop nevirapine-associated side effects as well as too low plasma concentrations for viral suppression.

Keywords: allele frequencies, genetically diverse, nevirapine, single nucleotide polymorphism

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Authors: Tety Hartatik, Dian Kurniawati, Adiarto

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The aim of the research was to determine the associations between polymorphism of the bovine growth hormone (GH) gene (Leu/Val, L/V) and milk production of Friesian Holstein Cattle. A total of 62 cows which consist of two Friesian Holstein groups (cattle from New Zealand are 19 heads and cattle from Australia are 43 heads). We perform the PCR and RFLP method for analyzing the genotype of the target gene GH 211 bp in the part of intron 4 and exon 5 of GH gene. The frequencies of genotypes LL were higher than genotype LV. The number of genotype LL in New Zealand and Australia groups are 84% and 79%, respectively. The number of genotype LV in New Zealand and Australia groups are 16% and 21%, respectively. The association between Leu/Val polymorphism on milk production, fat and protein content in both groups does not show the significant effect. However base on the groups (cows from New Zealand compare with those from Australia) show the significant effect on fat and protein content.

Keywords: Friesian Holstein, fat content, growth hormone gene, milk production, PCR-RLFP, protein content

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Authors: Kumar Ashwini, Nayak C. Vinod

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Sudden unexpected death in epilepsy (SUDEP) is a rarity. Each year, about one in 150 epileptics, whose seizures are not controlled, may die of SUDEP. It is a leading cause of death in young adults with uncontrolled seizures. Understanding the genetic basis for SUDEP, is crucial given that the rate of sudden death in epilepsy patients is 20 fold that of the general population. We encountered one such case of a young male, a known epileptic, who was brought dead after a sudden collapse. We hereby present a poster discussing the autopsy findings of this case and also highlighting the importance of understanding the genetic basis of SUDEP.

Keywords: sudden death, epilepsy, genetic, autopsy

Procedia PDF Downloads 338

Authors: Maletsema Alina Mofokeng, Hussein Shimelis, Mark Laing, Pangirayi Tongoona

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Sorghum is one of the most important cereal crops grown for food, feed and bioenergy. Knowledge of genetic diversity is important for conservation of genetic resources and improvement of crop plants through breeding. The objective of this study was to assess the level of genetic diversity among sorghum genotypes using microsatellite markers. A total of 103 accessions of sorghum genotypes obtained from the Department of Agriculture, Forestry and Fisheries, the African Centre for Crop Improvement and Agricultural Research Council-Grain Crops Institute collections in South Africa were estimated using 30 microsatellite markers. For all the loci analysed, 306 polymorphic alleles were detected with a mean value of 6.4 per locus. The polymorphic information content had an average value of 0.50 with heterozygosity mean value of 0.55 suggesting an important genetic diversity within the sorghum genotypes used. The unweighted pair group method with arithmetic mean clustering based on Euclidian coefficients revealed two major distinct groups without allocating genotypes based on the source of collection or origin. The genotypes 4154.1.1.1, 2055.1.1.1, 4441.1.1.1, 4442.1.1.1, 4722.1.1.1, and 4606.1.1.1 were the most diverse. The sorghum genotypes with high genetic diversity could serve as important sources of novel alleles for breeding and strategic genetic conservation.

Keywords: Genetic Diversity, Genotypes, Microsatellites, Sorghum

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Authors: Younis R. Elhaddad, Mohamed A. Alshaari

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Since 2700 B.C the problem of constructing magic squares attracts many researchers. Magic squares one of most difficult challenges for mathematicians. In this work, we describe how to construct and enumerate Pan- magic squares using genetic algorithm, using new chromosome encoding technique. The results were promising within reasonable time.

Keywords: genetic algorithm, magic square, pan-magic square, computational intelligence

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Authors: Ashraf M. Ward, Ruban S. Yu

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Data consisting of 2757 records from tow Holstein herds made between 2000 and 2010 were used to examine environmental factors affecting age at first calving (AFC) and calving intervals (CI) and consequently estimate genetic and phenotypic parameters and trends. The overall means and standard errors for AFC and CI were 39.4 ± 7.2 months and 487.5 ± 151.6 days respectively. The respective heritability estimates were 0.091 ± 0.05 and 0.044 ± 0.032, while the repeatability estimate for CI was 0.096 ± 0.001. The genetic trends for CI and AFC were -0.6 d/yr and -0.01 mo/yr respectively and were both significant (P < 0.001), indicating a decrease in mean breeding value over the study period. Phenotypic trends were -0.31 mo/yr and -0.35 d/yr for AFC and CI respectively though non-significant (P > 0.05). The low heritability for CI and AFC indicated that temporary environmental influences were much greater than genetic influences or permanent environmental influences on these traits.

Keywords: Holstein, reproductive, genetic parameters, heritability

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Authors: Rishabh Srivastav, Divyam Sharma

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We propose an algorithm to cluster categorical data named as ‘Genetic algorithm initialized rough set based fuzzy K-Modes for categorical data’. We propose an amalgamation of the simple K-modes algorithm, the Rough and Fuzzy set based K-modes and the Genetic Algorithm to form a new algorithm,which we hypothesise, will provide better Centroid Model clustering results, than existing standard algorithms. In the proposed algorithm, the initialization and updation of modes is done by the use of genetic algorithms while the membership values are calculated using the rough set and fuzzy logic.

Keywords: categorical data, fuzzy logic, genetic algorithm, K modes clustering, rough sets

Procedia PDF Downloads 204