• Title/Summary/Keyword: Mutation

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Structural Bioinformatics Analysis of Disease-related Mutations

  • Park, Seong-Jin;Oh, Sang-Ho;Park, Dae-Ui;Bhak, Jong
    • Genomics & Informatics
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    • v.6 no.3
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    • pp.142-146
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    • 2008
  • In order to understand the protein functions that are related to disease, it is important to detect the correlation between amino acid mutations and disease. Many mutation studies about disease-related proteins have been carried out through molecular biology techniques, such as vector design, protein engineering, and protein crystallization. However, experimental protein mutation studies are time-consuming, be it in vivo or in vitro. We therefore performed a bioinformatic analysis of known disease-related mutations and their protein structure changes in order to analyze the correlation between mutation and disease. For this study, we selected 111 diseases that were related to 175 proteins from the PDB database and 710 mutations that were found in the protein structures. The mutations were acquired from the Human Gene Mutation Database (HGMD). We selected point mutations, excluding only insertions or deletions, for detecting structural changes. To detect a structural change by mutation, we analyzed not only the structural properties (distance of pocket and mutation, pocket size, surface size, and stability), but also the physico-chemical properties (weight, instability, isoelectric point (IEP), and GRAVY score) for the 710 mutations. We detected that the distance between the pocket and disease-related mutation lay within $20\;{\AA}$ (98.5%, 700 proteins). We found that there was no significant correlation between structural stability and disease-causing mutations or between hydrophobicity changes and critical mutations. For large-scale mutational analysis of disease-causing mutations, our bioinformatics approach, using 710 structural mutations, called "Structural Mutatomics," can help researchers to detect disease-specific mutations and to understand the biological functions of disease-related proteins.

Comparison of Test Case Effectiveness Based on Dynamic Diagrams Using Mutation Testing (뮤테이션 테스트를 이용한 동적 다이어그램에 근거한 테스트 케이스의 효율 비교)

  • Lee, Hyuck-Su;Choi, Eun-Man
    • The KIPS Transactions:PartD
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    • v.16D no.4
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    • pp.517-526
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    • 2009
  • It is possible to indicate the complex design and execution of object-oriented program with dynamic UML diagram. This paper shows the way how to make several test cases from sequence, state, and activity diagram among dynamic UML diagram. Three dynamic UML diagrams about withdrawal work of ATM simulation program are drawn. Then different test cases are created from these diagrams using previously described ways. To evaluate effectiveness of test cases, mutation testing is executed. Mutants are made from MuClipse plug-in tool based on Eclipse which supports many traditional and class mutation operators. Finally we've got the result of mutation testing and compare effectiveness of test cases, etc. Through this document, we've known some hints that how to choose the way of making test cases.

Mutations of ${\beta}3$ Adrenergic Receptor in Korean Patients treated with Herbal Dieting Program for Obesity (한방비만치료임상례중 ${\beta}3$ Adrenergic Receptor 변이율에 대한 고찰 (비만유전자보유유무에 따른 치료효과 비교))

  • Kim, Dong-Yeol;Kim, Kil-Soo;Kim, Sun-Min
    • Journal of Korean Medicine for Obesity Research
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    • v.2 no.1
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    • pp.43-52
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    • 2002
  • Purpose & Methods: In order to study obese gene mutation rate in obese Korean patients and to investigate the effect at Chegamuiyiin-tang and electro-lipolysis-acupuncture on obesity treatment. the difference of the reaction to herbal dieting between patients with ${\beta}3$ adrenergic receptor mutation and the patients with wild type ${\beta}3$ adrenergic receptor is observed. Results: Chegamuiyiin-tang and electro-lipolysis-acupuncture treatment are effective on the treatment of obesity in weight reduction. body fat reduction and the circumferences of arm, abdomen, hip and thigh. In the comparison of ${\beta}3$ adrenergic receptor wild type and ${\beta}3$ adrenergic receptor mutation groups, body fat was more reduced with statistical significance, and as for BMI change and body weight change were higher in ${\beta}3$ adrenergic receptor mutation groups with no statistical significance. In the comparison of ${\beta}3$ adrenergic receptor wild type and ${\beta}3$ adrenergic receptor mutation groups among BMI under 25 patients change rate of body weight. BMI, body fact percentage, WHR and body circumference were higher in ${\beta}3$ adrenergic receptor mutation group than in ${\beta}3$ adrenergic receptor wild type group. Conclusion: These results imply that herbal dieting program combined with electro-lipolysis-acupuncture is more effective on reducing body weight and body fat in ${\beta}3$ adrenergic receptor mutation group than wild type group, and that the earlier the treatment is applied, the more effective it is.

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An Efficiency Analysis on Mutation Operation with TSP solved in Genetic Algorithm

  • Yoon, Hoijin
    • Journal of the Korea Society of Computer and Information
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    • v.25 no.12
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    • pp.55-61
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    • 2020
  • Genetic Algorithm(GA) is applied to a problem that could not figure out its solution in a straightway. It is called as NP-hard problem. GA requires a high-performance system to be run on since the high-cost operations are needed such as crossover, selection, and mutation. Moreover, the scale of the problem domain is normally huge. That is why the straightway cannot be applied. To reduce the drawback of high-cost requirements, we try to answer if all the operations including mutation are necessary for all cases. In the experiment, we set up two cases of with/without mutation operations and gather the number of generations and the fitness of a solution. The subject in the experiment is Travelling Salesman Problem(TSP), which is one of the popular problems solved by GA. As a result, the cases with mutation operation are not faster and the solution is fitter than the case with mutation operation. From the result, the conclusion is that mutation operation does not always need for a better solution in a faster way.

Design and Implementation of Learning Contents Using Interactive Genetic Algorithms with Modified Mutation (변형된 돌연변이를 가진 대화형 유전자 알고리즘을 이용한 학습 콘텐츠의 설계 및 구현)

  • Kim Jung-Sook
    • Journal of the Korea Society of Computer and Information
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    • v.10 no.6 s.38
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    • pp.85-92
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    • 2005
  • In this Paper, we develope an effective web-based learning contents using interactive genetic algorithms with modified mutation operation. In the interactive genetic algorithm, reciprocal exchange mutation is used. But. we modify the mutation operator to improve the learning effects. The new web-based learning contents using interactive genetic algorithm provide the dynamic learning contents providing and real-time test system. Especially, learners can execute the interactive genetic algorithm according to the learners' characters and interests to select the efficient learning environments and contents sequences.

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A Hybrid Method for Improvement of Evolutionary Computation (진화 연산의 성능 개선을 위한 하이브리드 방법)

  • Chung, Jin-Ki;Oh, Se-Young
    • Journal of the Korean Institute of Intelligent Systems
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    • v.12 no.4
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    • pp.317-322
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    • 2002
  • The major operations of Evolutionary Computation include crossover, mutation, competition and selection. Although selection does not create new individuals like crossover or mutation, a poor selection mechanism may lead to problems such as taking a long time to reach an optimal solution or even not finding it at all. In view of this, this paper proposes a hybrid Evolutionary Programming (EP) algorithm that exhibits a strong capability to move toward the global optimum even when stuck at a local minimum using a synergistic combination of the following three basic ideas. First, a "local selection" technique is used in conjunction with the normal tournament selection to help escape from a local minimum. Second, the mutation step has been improved with respect to the Fast Evolutionary Programming technique previously developed in our research group. Finally, the crossover and mutation operations of the Genetic Algorithm have been added as a parallel independent branch of the search operation of an EP to enhance search diversity.

Early onset of colorectal cancer in a 13-year-old girl with Lynch syndrome

  • Ahn, Do Hee;Rho, Jung Hee;Tchah, Hann;Jeon, In-Sang
    • Clinical and Experimental Pediatrics
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    • v.59 no.1
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    • pp.40-42
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    • 2016
  • Lynch syndrome is the most common inherited colon cancer syndrome. Patients with Lynch syndrome develop a range of cancers including colorectal cancer (CRC) and carry a mutation on one of the mismatched repair (MMR) genes. Although CRC usually occurs after the fourth decade in patients with Lynch syndrome harboring a heterozygous MMR gene mutation, it can occur in children with Lynch syndrome who have a compound heterozygous or homozygous MMR gene mutation. We report a case of CRC in a 13-year-old patient with Lynch syndrome and congenital heart disease. This patient had a heterozygous mutation in MLH1 (an MMR gene), but no compound MMR gene defects, and a K-RAS somatic mutation in the cancer cells.

Performance Improvement of Evolution Strategies using Reinforcement Learning

  • Sim, Kwee-Bo;Chun, Ho-Byung
    • International Journal of Fuzzy Logic and Intelligent Systems
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    • v.1 no.1
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    • pp.125-130
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    • 2001
  • In this paper, we propose a new type of evolution strategies combined with reinforcement learning. We use the variances of fitness occurred by mutation to make the reinforcement signals which estimate and control the step length of mutation. With this proposed method, the convergence rate is improved. Also, we use cauchy distributed mutation to increase global convergence faculty. Cauchy distributed mutation is more likely to escape from a local minimum or move away from a plateau. After an outline of the history of evolution strategies, it is explained how evolution strategies can be combined with the reinforcement learning, named reinforcement evolution strategies. The performance of proposed method will be estimated by comparison with conventional evolution strategies on several test problems.

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Mutation of Placental Mitochondria in the Etiology of Preeclampsia (자간전증 원인에 있어서 태반 미토콘드리아의 돌연변이)

  • 김영태;박상희;김선행
    • Development and Reproduction
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    • v.3 no.1
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    • pp.15-19
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    • 1999
  • Preeclampsia is a common, pregnancy-induced hypertensive disease leading to severe morbidity in the mother and fetus. Although the etiology of preeclampsia remains unclear, many studies focus mutation of placental mitochondria as the cause of this disease. This review covers mutation of placental mitochondria as the possible etiology of preeclampsia, prevention and treatment strategies based on the hypothesis of mutation of placental mitochondria in the etiology of preeclampsia.

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Two Cases of Prolonged Mutation Difficulty Treated by Pressure Method (압박법으로 교정한 변성기장애지속증)

  • 문영일
    • Proceedings of the KOR-BRONCHOESO Conference
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    • 1983.05a
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    • pp.11.1-11
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    • 1983
  • Mutation consisted of abrupt and uncontrolled rises and falls in vocal pitch due to poor coordination of the laryngeal musculature associated with general bodily growth. The male voice drops about 10 semitones after mutation period but the female voice drops about 2 semitones. Symptoms of abnormal voice mutation are many variations in the voice. Sometimes the voice is a true falsetto, high and thin. The au thor experienced two male cases of prolonged mutation difficulty treated by pressure method. The result were excellent with simple maneuver. The author reported the result of treatment for two cases and reviewed the literatures.

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