Search results for: Y chromosome.

Authors: Xun Liang

Abstract:

In this paper, we probe into the traffic assignment problem by the chromosome-learning-based path finding method in simulation, which is to model the driver' behavior in the with-in-a-day process. By simply making a combination and a change of the traffic route chromosomes, the driver at the intersection chooses his next route. The various crossover and mutation rules are proposed with extensive examples.

Keywords: Chromosome learning, crossover, mutation, traffic path finding.

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Authors: J. Bernasovská, R. Lohajová Behulová, E. Petrejčiková, I. Boroňová, I. Bernasovský

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Y chromosome microdeletions are the most common genetic cause of male infertility and screening for these microdeletions in azoospermic or severely oligospermic men is now standard practice. Analysis of the Y chromosome in men with azoospermia or severe oligozoospermia has resulted in the identification of three regions in the euchromatic part of the long arm of the human Y chromosome (Yq11) that are frequently deleted in men with otherwise unexplained spermatogenic failure. PCR analysis of microdeletions in the AZFa, AZFb and AZFc regions of the human Y chromosome is an important screening tool. The aim of this study was to analyse the type of microdeletions in men with fertility disorders in Slovakia. We evaluated 227 patients with azoospermia and with normal karyotype. All patient samples were analyzed cytogenetically. For PCR amplification of sequence-tagged sites (STS) of the AZFa, AZFb and AZFc regions of the Y chromosome was used Devyser AZF set. Fluorescently labeled primers for all markers in one multiplex PCR reaction were used and for automated visualization and identification of the STS markers we used genetic analyzer ABi 3500xl (Life Technologies). We reported 13 cases of deletions in the AZF region 5,73%. Particular types of deletions were recorded in each region AZFa,b,c .The presence of microdeletions in the AZFc region was the most frequent. The study confirmed that percentage of microdeletions in the AZF region is low in Slovak azoospermic patients, but important from a prognostic view.

Keywords: AZF, male infertility, microdeletions, Y chromosome.

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Authors: Abolfazl Rashidi Asl, Siroos Mahfoozi, Mohammad Reza Bihamta

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Low temperature (LT) is one of the most abiotic stresses causing loss of yield in wheat (T. aestivum). Four major genes in wheat (Triticum aestivum L.) with the dominant alleles designated Vrn–A1,Vrn–B1,Vrn–D1 and Vrn4, are known to have large effects on the vernalization response, but the effects on cold hardiness are ambiguous. Poor cold tolerance has restricted winter wheat production in regions of high winter stress [9]. It was known that nearly all wheat chromosomes [5] or at least 10 chromosomes of 21 chromosome pairs are important in winter hardiness [15]. The objective of present study was to clarify the role of each chromosome in cold tolerance. With this purpose we used 20 isogenic lines of wheat. In each one of these isogenic lines only a chromosome from ‘Bezostaya’ variety (a winter habit cultivar) was substituted to ‘Capple desprez’ variety. The plant materials were planted in controlled conditions with 20º C and 16 h day length in moderately cold areas of Iran at Karaj Agricultural Research Station in 2006-07 and the acclimation period was completed for about 4 weeks in a cold room with 4º C. The cold hardiness of these isogenic lines was measured by LT50 (the temperature in which 50% of the plants are killed by freezing stress).The experimental design was completely randomized block design (RCBD)with three replicates. The results showed that chromosome 5A had a major effect on freezing tolerance, and then chromosomes 1A and 4A had less effect on this trait. Further studies are essential to understanding the importance of each chromosome in controlling cold hardiness in wheat.

Keywords: Cold hardiness, isogenic lines, LT50 , Triticum.

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Authors: Alexander Kaplunovsky, Vladimir Khailenko, Alexander Bolshoy, Shara Atambayeva, AnatoliyIvashchenko

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Eukaryotic protein-coding genes are interrupted by spliceosomal introns, which are removed from the RNA transcripts before translation into a protein. The exon-intron structures of different eukaryotic species are quite different from each other, and the evolution of such structures raises many questions. We try to address some of these questions using statistical analysis of whole genomes. We go through all the protein-coding genes in a genome and study correlations between the net length of all the exons in a gene, the number of the exons, and the average length of an exon. We also take average values of these features for each chromosome and study correlations between those averages on the chromosomal level. Our data show universal features of exon-intron structures common to animals, plants, and protists (specifically, Arabidopsis thaliana, Caenorhabditis elegans, Drosophila melanogaster, Cryptococcus neoformans, Homo sapiens, Mus musculus, Oryza sativa, and Plasmodium falciparum). We have verified linear correlation between the number of exons in a gene and the length of a protein coded by the gene, while the protein length increases in proportion to the number of exons. On the other hand, the average length of an exon always decreases with the number of exons. Finally, chromosome clustering based on average chromosome properties and parameters of linear regression between the number of exons in a gene and the net length of those exons demonstrates that these average chromosome properties are genome-specific features.

Keywords: Comparative genomics, exon-intron structure, eukaryotic clustering, linear regression.

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Authors: Wisam H. Benamer, Ehab A. Elfallah, Mohamed A. Elshaari, Farag A. Elshaari

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A challenge for laboratories is to provide bacterial identification and antibiotic sensitivity results within a short time. Hence, advancement in the required technology is desirable to improve timing, accuracy and quality. Even with the current advances in methods used for both phenotypic and genotypic identification of bacteria the need is there to develop method(s) that enhance the outcome of bacteriology laboratories in accuracy and time. The hypothesis introduced here is based on the assumption that the chromosome of any bacteria contains unique sequences that can be used for its identification and typing. The outcome of a pilot study designed to test this hypothesis is reported in this manuscript. Methods: The complete chromosome sequences of several bacterial species were downloaded to use as search targets for unique sequences. Visual basic and SQL server (2014) were used to generate a complete set of 18-base long primers, a process started with reverse translation of randomly chosen 6 amino acids to limit the number of the generated primers. In addition, the software used to scan the downloaded chromosomes using the generated primers for similarities was designed, and the resulting hits were classified according to the number of similar chromosomal sequences, i.e., unique or otherwise. Results: All primers that had identical/similar sequences in the selected genome sequence(s) were classified according to the number of hits in the chromosomes search. Those that were identical to a single site on a single bacterial chromosome were referred to as unique. On the other hand, most generated primers sequences were identical to multiple sites on a single or multiple chromosomes. Following scanning, the generated primers were classified based on ability to differentiate between medically important bacterial and the initial results looks promising. Conclusion: A simple strategy that started by generating primers was introduced; the primers were used to screen bacterial genomes for match. Primer(s) that were uniquely identical to specific DNA sequence on a specific bacterial chromosome were selected. The identified unique sequence can be used in different molecular diagnostic techniques, possibly to identify bacteria. In addition, a single primer that can identify multiple sites in a single chromosome can be exploited for region or genome identification. Although genomes sequences draft of isolates of organism DNA enable high throughput primer design using alignment strategy, and this enhances diagnostic performance in comparison to traditional molecular assays. In this method the generated primers can be used to identify an organism before the draft sequence is completed. In addition, the generated primers can be used to build a bank for easy access of the primers that can be used to identify bacteria.

Keywords: Bacteria chromosome, bacterial identification, sequence, primer generation.

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Authors: Kristina Davoian, Wolfram-M. Lippe

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Evolutionary Programming (EP) represents a methodology of Evolutionary Algorithms (EA) in which mutation is considered as a main reproduction operator. This paper presents a novel EP approach for Artificial Neural Networks (ANN) learning. The proposed strategy consists of two components: the self-adaptive, which contains phenotype information and the dynamic, which is described by genotype. Self-adaptation is achieved by the addition of a value, called the network weight, which depends on a total number of hidden layers and an average number of neurons in hidden layers. The dynamic component changes its value depending on the fitness of a chromosome, exposed to mutation. Thus, the mutation step size is controlled by two components, encapsulated in the algorithm, which adjust it according to the characteristics of a predefined ANN architecture and the fitness of a particular chromosome. The comparative analysis of the proposed approach and the classical EP (Gaussian mutation) showed, that that the significant acceleration of the evolution process is achieved by using both phenotype and genotype information in the mutation strategy.

Keywords: Artificial Neural Networks (ANN), Learning Theory, Evolutionary Programming (EP), Mutation, Self-Adaptation.

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Authors: Emanuele Stomeo, Tatiana Kalganova, Cyrille Lambert

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The evolution of logic circuits, which falls under the heading of evolvable hardware, is carried out by evolutionary algorithms. These algorithms are able to automatically configure reconfigurable devices. One of main difficulties in developing evolvable hardware with the ability to design functional electrical circuits is to choose the most favourable EA features such as fitness function, chromosome representations, population size, genetic operators and individual selection. Until now several researchers from the evolvable hardware community have used and tuned these parameters and various rules on how to select the value of a particular parameter have been proposed. However, to date, no one has presented a study regarding the size of the chromosome representation (circuit layout) to be used as a platform for the evolution in order to increase the evolvability, reduce the number of generations and optimize the digital logic circuits through reducing the number of logic gates. In this paper this topic has been thoroughly investigated and the optimal parameters for these EA features have been proposed. The evolution of logic circuits has been carried out by an extrinsic evolvable hardware system which uses (1+λ) evolution strategy as the core of the evolution.

Keywords: Evolvable hardware, genotype size, computational intelligence, design of logic circuits.

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Authors: Wayan F. Mahmudy, Romeo M. Marian, Lee H. S. Luong

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This paper and its companion (Part 2) deal with modeling and optimization of two NP-hard problems in production planning of flexible manufacturing system (FMS), part type selection problem and loading problem. The part type selection problem and the loading problem are strongly related and heavily influence the system-s efficiency and productivity. The complexity of the problems is harder when flexibilities of operations such as the possibility of operation processed on alternative machines with alternative tools are considered. These problems have been modeled and solved simultaneously by using real coded genetic algorithms (RCGA) which uses an array of real numbers as chromosome representation. These real numbers can be converted into part type sequence and machines that are used to process the part types. This first part of the papers focuses on the modeling of the problems and discussing how the novel chromosome representation can be applied to solve the problems. The second part will discuss the effectiveness of the RCGA to solve various test bed problems.

Keywords: Flexible manufacturing system, production planning, part type selection problem, loading problem, real-coded genetic algorithm

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Authors: Wayan F. Mahmudy, Romeo M. Marian, Lee H. S. Luong

Abstract:

This paper presents modeling and optimization of two NP-hard problems in flexible manufacturing system (FMS), part type selection problem and loading problem. Due to the complexity and extent of the problems, the paper was split into two parts. The first part of the papers has discussed the modeling of the problems and showed how the real coded genetic algorithms (RCGA) can be applied to solve the problems. This second part discusses the effectiveness of the RCGA which uses an array of real numbers as chromosome representation. The novel proposed chromosome representation produces only feasible solutions which minimize a computational time needed by GA to push its population toward feasible search space or repair infeasible chromosomes. The proposed RCGA improves the FMS performance by considering two objectives, maximizing system throughput and maintaining the balance of the system (minimizing system unbalance). The resulted objective values are compared to the optimum values produced by branch-and-bound method. The experiments show that the proposed RCGA could reach near optimum solutions in a reasonable amount of time.

Keywords: Flexible manufacturing system, production planning, part type selection problem, loading problem, real-coded genetic algorithm

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Authors: Wayan F. Mahmudy, Romeo M. Marian, Lee H. S. Luong

Abstract:

 This paper deals with modeling and optimization of two NP-hard problems in production planning of flexible manufacturing system (FMS), part type selection problem and loading problem. The part type selection problem and the loading problem are strongly related and heavily influence the system’s efficiency and productivity. These problems have been modeled and solved simultaneously by using real coded genetic algorithms (RCGA) which uses an array of real numbers as chromosome representation. The novel proposed chromosome representation produces only feasible solutions which minimize a computational time needed by GA to push its population toward feasible search space or repair infeasible chromosomes. The proposed RCGA improves the FMS performance by considering two objectives, maximizing system throughput and maintaining the balance of the system (minimizing system unbalance). The resulted objective values are compared to the optimum values produced by branch-and-bound method. The experiments show that the proposed RCGA could reach near optimum solutions in a reasonable amount of time.

Keywords: Flexible manufacturing system, production planning, part type selection problem, loading problem, real-coded genetic algorithm.

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Authors: Nicolae Bold, Daniel Nijloveanu

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The idea of cropping-system is a method used by farmers. It is an environmentally-friendly method, protecting the natural resources (soil, water, air, nutritive substances) and increase the production at the same time, taking into account some crop particularities. The combination of this powerful method with the concepts of genetic algorithms results into a possibility of generating sequences of crops in order to form a rotation. The usage of this type of algorithms has been efficient in solving problems related to optimization and their polynomial complexity allows them to be used at solving more difficult and various problems. In our case, the optimization consists in finding the most profitable rotation of cultures. One of the expected results is to optimize the usage of the resources, in order to minimize the costs and maximize the profit. In order to achieve these goals, a genetic algorithm was designed. This algorithm ensures the finding of several optimized solutions of cropping-systems possibilities which have the highest profit and, thus, which minimize the costs. The algorithm uses genetic-based methods (mutation, crossover) and structures (genes, chromosomes). A cropping-system possibility will be considered a chromosome and a crop within the rotation is a gene within a chromosome. Results about the efficiency of this method will be presented in a special section. The implementation of this method would bring benefits into the activity of the farmers by giving them hints and helping them to use the resources efficiently.

Keywords: Genetic algorithm, chromosomes, genes, cropping, agriculture.

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Authors: Kamal K. Bharadwaj, Basheer M. Al-Maqaleh

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In the recent past, there has been an increasing interest in applying evolutionary methods to Knowledge Discovery in Databases (KDD) and a number of successful applications of Genetic Algorithms (GA) and Genetic Programming (GP) to KDD have been demonstrated. The most predominant representation of the discovered knowledge is the standard Production Rules (PRs) in the form If P Then D. The PRs, however, are unable to handle exceptions and do not exhibit variable precision. The Censored Production Rules (CPRs), an extension of PRs, were proposed by Michalski & Winston that exhibit variable precision and supports an efficient mechanism for handling exceptions. A CPR is an augmented production rule of the form: If P Then D Unless C, where C (Censor) is an exception to the rule. Such rules are employed in situations, in which the conditional statement 'If P Then D' holds frequently and the assertion C holds rarely. By using a rule of this type we are free to ignore the exception conditions, when the resources needed to establish its presence are tight or there is simply no information available as to whether it holds or not. Thus, the 'If P Then D' part of the CPR expresses important information, while the Unless C part acts only as a switch and changes the polarity of D to ~D. This paper presents a classification algorithm based on evolutionary approach that discovers comprehensible rules with exceptions in the form of CPRs. The proposed approach has flexible chromosome encoding, where each chromosome corresponds to a CPR. Appropriate genetic operators are suggested and a fitness function is proposed that incorporates the basic constraints on CPRs. Experimental results are presented to demonstrate the performance of the proposed algorithm.

Keywords: Censored Production Rule, Data Mining, MachineLearning, Evolutionary Algorithms.

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Authors: Razagh Hafezi, Ahmad Keshavarz, Vida Moshfegh

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This paper presents a novel algorithm of stereo correspondence with rank transform. In this algorithm we used the genetic algorithm to achieve the accurate disparity map. Genetic algorithms are efficient search methods based on principles of population genetic, i.e. mating, chromosome crossover, gene mutation, and natural selection. Finally morphology is employed to remove the errors and discontinuities.

Keywords: genetic algorithm, morphology, rank transform, stereo correspondence

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Authors: Cyrille Lambert, Tatiana Kalganova, Emanuele Stomeo, Manissa Wilson

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A multi-board run-time reconfigurable (MRTR) system for evolvable hardware (EHW) is introduced with the aim to implement on hardware the bidirectional incremental evolution (BIE) method. The main features of this digital intrinsic EHW solution rely on the multi-board approach, the variable chromosome length management and the partial configuration of the reconfigurable circuit. These three features provide a high scalability to the solution. The design has been written in VHDL with the concern of not being platform dependant in order to keep a flexibility factor as high as possible. This solution helps tackling the problem of evolving complex task on digital configurable support.

Keywords: Evolvable Hardware, Evolutionary Strategy, multiboardFPGA system.

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Authors: Radhwan Yousif Sedik Al-Jawadi

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Optimization is necessary for finding appropriate solutions to a range of real-life problems. In particular, genetic (or more generally, evolutionary) algorithms have proved very useful in solving many problems for which analytical solutions are not available. In this paper, we present an optimization algorithm called Dynamic Schema with Dissimilarity and Similarity of Chromosomes (DSDSC) which is a variant of the classical genetic algorithm. This approach constructs new chromosomes from a schema and pairs of existing ones by exploring their dissimilarities and similarities. To show the effectiveness of the algorithm, it is tested and compared with the classical GA, on 15 two-dimensional optimization problems taken from literature. We have found that, in most cases, our method is better than the classical genetic algorithm.

Keywords: Genetic algorithm, similarity and dissimilarity, chromosome injection, dynamic schema.

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Authors: I. Nassiri, B. Goliaei, M. Tavassoli

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The ability to distinguish missense nucleotide substitutions that contribute to harmful effect from those that do not is a difficult problem usually accomplished through functional in vivo analyses. In this study, instead current biochemical methods, the effects of missense mutations upon protein structure and function were assayed by means of computational methods and information from the databases. For this order, the effects of new missense mutations in exon 5 of PTEN gene upon protein structure and function were examined. The gene coding for PTEN was identified and localized on chromosome region 10q23.3 as the tumor suppressor gene. The utilization of these methods were shown that c.319G>A and c.341T>G missense mutations that were recognized in patients with breast cancer and Cowden disease, could be pathogenic. This method could be use for analysis of missense mutation in others genes.

Keywords: Bioinformatics, missense mutations, PTEN tumorsuppressor gene.

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Authors: Bin Cai, Shilong Wang, Haibo Hu

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The job shop scheduling problem (JSSP) is well known as one of the most difficult combinatorial optimization problems. This paper presents a hybrid genetic algorithm for the JSSP with the objective of minimizing makespan. The efficiency of the genetic algorithm is enhanced by integrating it with a local search method. The chromosome representation of the problem is based on operations. Schedules are constructed using a procedure that generates full active schedules. In each generation, a local search heuristic based on Nowicki and Smutnicki-s neighborhood is applied to improve the solutions. The approach is tested on a set of standard instances taken from the literature and compared with other approaches. The computation results validate the effectiveness of the proposed algorithm.

Keywords: Genetic algorithm, Job shop scheduling problem, Local search, Meta-heuristic algorithm

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Authors: A.K.M. Khaled Ahsan Talukder, Taibun Nessa, Kaushik Roy

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The weight constrained shortest path problem (WCSPP) is one of most several known basic problems in combinatorial optimization. Because of its importance in many areas of applications such as computer science, engineering and operations research, many researchers have extensively studied the WCSPP. This paper mainly concentrates on the reduction of total search space for finding WCSP using some existing Genetic Algorithm (GA). For this purpose, some controlled schemes of genetic operators are adopted on list chromosome representation. This approach gives a near optimum solution with smaller elapsed generation than classical GA technique. From further analysis on the matter, a new generalized schema theorem is also developed from the philosophy of Holland-s theorem.

Keywords: Genetic Algorithm, Evolutionary Optimization, Multi Objective Optimization, Non-linear Schema Theorem, WCSPP.

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Authors: Meng-Hui Chen, Pei-Chann Chang, Wei-Hsiu Huang

Abstract:

Artificial Immune System is adopted as a Heuristic Algorithm to solve the combinatorial problems for decades. Nevertheless, many of these applications took advantage of the benefit for applications but seldom proposed approaches for enhancing the efficiency. In this paper, we continue the previous research to develop a Self-evolving Artificial Immune System II via coordinating the T and B cell in Immune System and built a block-based artificial chromosome for speeding up the computation time and better performance for different complexities of problems. Through the design of Plasma cell and clonal selection which are relative the function of the Immune Response. The Immune Response will help the AIS have the global and local searching ability and preventing trapped in local optima. From the experimental result, the significant performance validates the SEAIS II is effective when solving the permutation flows-hop problems.

Keywords: Artificial Immune System, Clonal Selection, Immune Response, Permutation Flow-shop Scheduling Problems

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Authors: Ovidiu Domşa, Nicolae Bold

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Using Information and Communication Technologies (ICT) notions in education and three basic processes of education (teaching, learning and assessment) can bring benefits to the pupils and the professional development of teachers. In this matter, we refer to these notions as concepts taken from the informatics area and apply them to the domain of education. These notions refer to genetic algorithms and arborescent structures, used in the specific process of assessment or evaluation. This paper uses these kinds of notions to generate subtrees from a main tree of tests related between them by their degree of difficulty. These subtrees must contain the highest number of connections between the nodes and the lowest number of missing edges (which are subtrees of the main tree) and, in the particular case of the non-existence of a subtree with no missing edges, the subtrees which have the lowest (minimal) number of missing edges between the nodes, where a node is a test and an edge is a direct connection between two tests which differs by one degree of difficulty. The subtrees are represented as sequences. The tests are the same (a number coding a test represents that test in every sequence) and they are reused for each sequence of tests.

Keywords: Chromosome, genetic algorithm, subtree, test.

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Authors: Pupong Pongcharoen, Aphirak Khadwilard, Anothai Klakankhai

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The importance of supply chain and logistics management has been widely recognised. Effective management of the supply chain can reduce costs and lead times and improve responsiveness to changing customer demands. This paper proposes a multi-matrix real-coded Generic Algorithm (MRGA) based optimisation tool that minimises total costs associated within supply chain logistics. According to finite capacity constraints of all parties within the chain, Genetic Algorithm (GA) often produces infeasible chromosomes during initialisation and evolution processes. In the proposed algorithm, chromosome initialisation procedure, crossover and mutation operations that always guarantee feasible solutions were embedded. The proposed algorithm was tested using three sizes of benchmarking dataset of logistic chain network, which are typical of those faced by most global manufacturing companies. A half fractional factorial design was carried out to investigate the influence of alternative crossover and mutation operators by varying GA parameters. The analysis of experimental results suggested that the quality of solutions obtained is sensitive to the ways in which the genetic parameters and operators are set.

Keywords: Genetic Algorithm, Logistics, Optimisation, Supply Chain.

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Authors: Suraiya Jabin, Kamal K. Bharadwaj

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This research presents a system for post processing of data that takes mined flat rules as input and discovers crisp as well as fuzzy hierarchical structures using Learning Classifier System approach. Learning Classifier System (LCS) is basically a machine learning technique that combines evolutionary computing, reinforcement learning, supervised or unsupervised learning and heuristics to produce adaptive systems. A LCS learns by interacting with an environment from which it receives feedback in the form of numerical reward. Learning is achieved by trying to maximize the amount of reward received. Crisp description for a concept usually cannot represent human knowledge completely and practically. In the proposed Learning Classifier System initial population is constructed as a random collection of HPR–trees (related production rules) and crisp / fuzzy hierarchies are evolved. A fuzzy subsumption relation is suggested for the proposed system and based on Subsumption Matrix (SM), a suitable fitness function is proposed. Suitable genetic operators are proposed for the chosen chromosome representation method. For implementing reinforcement a suitable reward and punishment scheme is also proposed. Experimental results are presented to demonstrate the performance of the proposed system.

Keywords: Hierarchical Production Rule, Data Mining, Learning Classifier System, Fuzzy Subsumption Relation, Subsumption matrix, Reinforcement Learning.

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Authors: Ashish Saini, A.K. Saxena

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The genetic algorithm (GA) based solution techniques are found suitable for optimization because of their ability of simultaneous multidimensional search. Many GA-variants have been tried in the past to solve optimal power flow (OPF), one of the nonlinear problems of electric power system. The issues like convergence speed and accuracy of the optimal solution obtained after number of generations using GA techniques and handling system constraints in OPF are subjects of discussion. The results obtained for GA-Fuzzy OPF on various power systems have shown faster convergence and lesser generation costs as compared to other approaches. This paper presents an enhanced GA-Fuzzy OPF (EGAOPF) using penalty factors to handle line flow constraints and load bus voltage limits for both normal network and contingency case with congestion. In addition to crossover and mutation rate adaptation scheme that adapts crossover and mutation probabilities for each generation based on fitness values of previous generations, a block swap operator is also incorporated in proposed EGA-OPF. The line flow limits and load bus voltage magnitude limits are handled by incorporating line overflow and load voltage penalty factors respectively in each chromosome fitness function. The effects of different penalty factors settings are also analyzed under contingent state.

Keywords: Contingent operation state, Fuzzy rule base, Genetic Algorithms, Optimal Power Flow.

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Authors: Huong M. T. Nguyen, Hoa A. P. Nguyen, Mai P. T. Nguyen, Ngoc D. Ngo, Van T. Ta, Hai T. Le, Chi V. Phan

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Wilson’s disease (WD) is an autosomal recessive disorder of the copper metabolism, which is caused by a mutation in the copper-transporting P-type ATPase (ATP7B). The mechanism of this disease is the failure of hepatic excretion of copper to bile, and leads to copper deposits in the liver and other organs. The ATP7B gene is located on the long arm of chromosome 13 (13q14.3). This study aimed to investigate the gene mutation in the Vietnamese patients with WD, and make a presymptomatic diagnosis for their familial members. Forty-three WD patients and their 65 siblings were identified as having ATP7B gene mutations. Genomic DNA was extracted from peripheral blood samples; 21 exons and exon-intron boundaries of the ATP7B gene were analyzed by direct sequencing. We recognized four mutations ([R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G) in the sum of 20 detectable mutations, accounting for 87.2% of the total. Mutation S105* was determined to have a high rate (32.6%) in this study. The hotspot regions of ATP7B were found at exons 2, 16, and 8, and intron 14, in 39.6 %, 11.6 %, 9.3%, and 7 % of patients, respectively. Among nine homozygote/compound heterozygote siblings of the patients with WD, three individuals were determined as asymptomatic by screening mutations of the probands. They would begin treatment after diagnosis. In conclusion, 20 different mutations were detected in 43 WD patients. Of this number, four novel mutations were explored, including [R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G. The mutation S105* is the most prevalent and has been considered as a biomarker that can be used in a rapid detection assay for diagnosis of WD patients. Exons 2, 8, and 16, and intron 14 should be screened initially for WD patients in Vietnam. Based on risk profile for WD, genetic testing for presymptomatic patients is also useful in diagnosis and treatment.

Keywords: ATP7B gene, mutation detection, presymptomatic diagnosis, Vietnamese Wilson’s disease.

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Authors: E. Dolatdar, S. Soleymani, B. Mozafari

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Power loss reduction is one of the main targets in power industry and so in this paper, the problem of finding the optimal configuration of a radial distribution system for loss reduction is considered. Optimal reconfiguration involves the selection of the best set of branches to be opened ,one each from each loop, for reducing resistive line losses , and reliving overloads on feeders by shifting the load to adjacent feeders. However ,since there are many candidate switching combinations in the system ,the feeder reconfiguration is a complicated problem. In this paper a new approach is proposed based on a simple optimum loss calculation by determining optimal trees of the given network. From graph theory a distribution network can be represented with a graph that consists a set of nodes and branches. In fact this problem can be viewed as a problem of determining an optimal tree of the graph which simultaneously ensure radial structure of each candidate topology .In this method the refined genetic algorithm is also set up and some improvements of algorithm are made on chromosome coding. In this paper an implementation of the algorithm presented by [7] is applied by modifying in load flow program and a comparison of this method with the proposed method is employed. In [7] an algorithm is proposed that the choice of the switches to be opened is based on simple heuristic rules. This algorithm reduce the number of load flow runs and also reduce the switching combinations to a fewer number and gives the optimum solution. To demonstrate the validity of these methods computer simulations with PSAT and MATLAB programs are carried out on 33-bus test system. The results show that the performance of the proposed method is better than [7] method and also other methods.

Keywords: Distribution System, Reconfiguration, Loss Reduction , Graph Theory , Optimization , Genetic Algorithm

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Authors: O. Grinchuk, E. Motakis, V. Kuznetsov

Abstract:

Sense-antisense gene pair (SAGP) is a pair of two oppositely transcribed genes sharing a common region on a chromosome. In the mammalian genomes, SAGPs can be organized in more complex sense-antisense gene architectures (CSAGA) in which at least one gene could share loci with two or more antisense partners. Many dozens of CSAGAs can be found in the human genome. However, CSAGAs have not been systematically identified and characterized in context of their role in human diseases including cancers. In this work we characterize the structural-functional properties of a cluster of 5 genes –TMEM97, IFT20, TNFAIP1, POLDIP2 and TMEM199, termed TNFAIP1 / POLDIP2 module. This cluster is organized as CSAGA in cytoband 17q11.2. Affymetrix U133A&B expression data of two large cohorts (410 atients, in total) of breast cancer patients and patient survival data were used. For the both studied cohorts, we demonstrate (i) strong and reproducible transcriptional co-regulatory patterns of genes of TNFAIP1/POLDIP2 module in breast cancer cell subtypes and (ii) significant associations of TNFAIP1/POLDIP2 CSAGA with amplification of the CSAGA region in breast cancer, (ii) cancer aggressiveness (e.g. genetic grades) and (iv) disease free patient-s survival. Moreover, gene pairs of this module demonstrate strong synergetic effect in the prognosis of time of breast cancer relapse. We suggest that TNFAIP1/ POLDIP2 cluster can be considered as a novel type of structural-functional gene modules in the human genome.

Keywords: Sense-antisense gene pair, complex genome architecture, TMEM97, IFT20, TNFAIP1, POLDIP2, TMEM199, 17q11.2, breast cancer, transcription regulation, survival analysis, prognosis.

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Authors: Suraiya Jabin, Kamal K. Bharadwaj

Abstract:

In the recent past Learning Classifier Systems have been successfully used for data mining. Learning Classifier System (LCS) is basically a machine learning technique which combines evolutionary computing, reinforcement learning, supervised or unsupervised learning and heuristics to produce adaptive systems. A LCS learns by interacting with an environment from which it receives feedback in the form of numerical reward. Learning is achieved by trying to maximize the amount of reward received. All LCSs models more or less, comprise four main components; a finite population of condition–action rules, called classifiers; the performance component, which governs the interaction with the environment; the credit assignment component, which distributes the reward received from the environment to the classifiers accountable for the rewards obtained; the discovery component, which is responsible for discovering better rules and improving existing ones through a genetic algorithm. The concatenate of the production rules in the LCS form the genotype, and therefore the GA should operate on a population of classifier systems. This approach is known as the 'Pittsburgh' Classifier Systems. Other LCS that perform their GA at the rule level within a population are known as 'Mitchigan' Classifier Systems. The most predominant representation of the discovered knowledge is the standard production rules (PRs) in the form of IF P THEN D. The PRs, however, are unable to handle exceptions and do not exhibit variable precision. The Censored Production Rules (CPRs), an extension of PRs, were proposed by Michalski and Winston that exhibit variable precision and supports an efficient mechanism for handling exceptions. A CPR is an augmented production rule of the form: IF P THEN D UNLESS C, where Censor C is an exception to the rule. Such rules are employed in situations, in which conditional statement IF P THEN D holds frequently and the assertion C holds rarely. By using a rule of this type we are free to ignore the exception conditions, when the resources needed to establish its presence are tight or there is simply no information available as to whether it holds or not. Thus, the IF P THEN D part of CPR expresses important information, while the UNLESS C part acts only as a switch and changes the polarity of D to ~D. In this paper Pittsburgh style LCSs approach is used for automated discovery of CPRs. An appropriate encoding scheme is suggested to represent a chromosome consisting of fixed size set of CPRs. Suitable genetic operators are designed for the set of CPRs and individual CPRs and also appropriate fitness function is proposed that incorporates basic constraints on CPR. Experimental results are presented to demonstrate the performance of the proposed learning classifier system.

Keywords: Censored Production Rule, Data Mining, GeneticAlgorithm, Learning Classifier System, Machine Learning, PittsburgApproach, , Reinforcement learning.

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Authors: Z. M. Biyasheva, M. Zh. Tleubergenova, Y. A. Zaripova, A. L. Shakirov, V. V. Dyachkov

Abstract:

In recent years, interest in ecogenetic and biomedical problems related to the effects on the population of radon and its daughter decay products has increased significantly. Of particular interest is the assessment of the consequence of irradiation at hazardous radon areas, which includes the Almaty region due to the large number of tectonic faults that enhance radon emanation. In connection with the foregoing, the purpose of this work was to study the genetic effects of exposure to supernormal radon doses on the alpha-radiation model. Irradiation does not affect the growth of the cell, but rather its ability to differentiate. In addition, irradiation can lead to somatic mutations, morphoses and modifications. These damages most likely occur from changes in the composition of the substances of the cell. Such changes are epigenetic since they affect the regulatory processes of ontogenesis. Variability in the expression of regulatory genes refers to conditional mutations that modify the formation of signs of intraspecific similarity. Characteristic features of these conditional mutations are the dominant type of their manifestation, phenotypic asymmetry and their instability in the generations. Currently, the terms “morphosis” and “modification” are used to describe epigenetic variability, which are maintained in Drosophila melanogaster cultures using linkaged X- chromosomes, and the mutant X-chromosome is transmitted along the paternal line. In this paper, we investigated the epigenetic effects of alpha particles, whose source in nature is mainly radon and its daughter decay products. In the experiment, an isotope of plutonium-238 (Pu²³⁸), generating radiation with an energy of about 5500 eV, was used as a source of alpha particles. In an experiment in the first generation (F₁), deformities or morphoses were found, which can be called "radiation syndromes" or mutations, the manifestation of which is similar to the pleiotropic action of genes. The proportion of morphoses in the experiment was 1.8%, and in control 0.4%. In this experiment, the morphoses in the flies of the first and second generation looked like black spots, or melanomas on different parts of the imago body; "generalized" melanomas; curled, curved wings; shortened wing; bubble on one wing; absence of one wing, deformation of thorax, interruption and violation of tergite patterns, disruption of distribution of ocular facets and bristles; absence of pigmentation of the second and third legs. Statistical analysis by the Chi-square method showed the reliability of the difference in experiment and control at P ≤ 0.01. On the basis of this, it can be considered that alpha particles, which in the environment are mainly generated by radon and its isotopes, have a mutagenic effect that manifests itself, mainly in the formation of morphoses or deformities.

Keywords: Alpha-radiation, genotoxicity, morphoses, radioecology, radon.

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