• 제목/요약/키워드: genetic mutation

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유전자 알고리즘을 이용한 유연생산시스템의 작업프로세스 스케쥴링분석 (WIP ANALYSIS OF FLEXIBLE MANUFACTURING SYSTEM BY GENETIC ALGORITHMS)

  • 김정원
    • 한국시뮬레이션학회:학술대회논문집
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    • 한국시뮬레이션학회 1998년도 추계학술대회 및 정기총회
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    • pp.142-146
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    • 1998
  • In this paper, we suggests a WIP(work in process) of FMS analysis methods based on the Genetic algorithm. We conjoined both the assignment and the scheduling problem in order to create a new representation scheme for a chromosome and a mutation operators.

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대장암에서 17, 18번 염색체의 이형접합성 소실 (Loss of Heterozygosity (LOH) on 17th and 18th Chromosome from Colorectal Carcinoma)

  • 이재식
    • 대한임상검사과학회지
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    • 제40권1호
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    • pp.41-47
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    • 2008
  • Colorectal carcinoma is occurred frequently to Korean and so ranked the fourth from various cancers. Due to western dietary life, this cancer has been increased continually. Therefore, the study will be needed to find a candidate gene involved in the development and progression of colorectal carcinoma and to diagnose and treatment helpfully. The striking feature from cancer suppressor genes is known for LOH (loss of heterozygosity), which is the method to find allele genetic loss or mutation of cancer cell. The purpose of this study was designed to find a carcinogenic gene from colon cancer using microsatellite marker on 17th and 18th chromosome from 30 subjects. The LOH was investigated in order of D18S59 57% (17/30), TP53CA 50% (15/30), D18S68 47% (14/30), D18S69 43% (13/30). The genetic mutation depends on loci of colorectal carcinoma was shown higher with 2.44 from colon cancer than with 1.25 from right colorectal carcinoma (p<0.032). The genetic mutation with lymph nodes was investigated higher with 2.69 at mutated group than with 1.14 at non-mutated group (p<0.003). At genetic mutated pattern depends on disease stage, there was higher significant difference at III-IV stage 2.50 than that of I-II stage 1.17, respectively (p=0.015). There was no difference at comparison between histological classification and serological CEA increase. The loss on 18q21 found in this study is highly recurrence loci and was observed 43% for Korean with high recurrence. Therefore, LOH is a very useful tool to detect 18q21 loci in clinical application, prior to the treatment of colorectal carcinoma. After the operation of colorectol carcinoma, the efficient application using LOH at operated part tissue which is designed to protect the recurrence as well as its cure will be needed.

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최단 경로 라우팅을 위한 새로운 유전자 알고리즘 (A New Genetic Algorithm for Shortest Path Routing Problem)

  • 안창욱;;강충구
    • 한국통신학회논문지
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    • 제27권12C호
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    • pp.1215-1227
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    • 2002
  • 본 논문은 최단 경로 라우팅 문제의 해결을 위한 새로운 방식의 유전자 알고리즘(Genetic Algorithm)을 제안한다. 이를 위해 가변길이(variable-length) 염색체(chromosome) 구조와 그에 따른 유전자 부호화(genes coding) 기법을 설계하고, 부분 염색체(partial-chromosome)를 교환하는데 있어서 교차점(crossing-site)에 의존성이 없는 교배(crossover) 기법과 개체군(population)의 다양성(diversity)을 유지하는 돌연변이(mutation) 기법을 개발한다. 또한, 모든 부적합(infeasible) 염색체를 간단하게 치료할 수 있는 복구 함수(repair function)를 제안한다. 제안 교배 기법과 돌연변이 기법의 상호 동작은 제안 알고리즘이 개체군의 다양성을 유지하면서 해-표면(solution-surface)을 효과적으로 탐색할 수 있도록 하여 해의 최적성(optimality) 및 수렴(convergence) 속도의 향상을 도모한다. 제안 알고리즘에 의해 계산된 경로의 최적성은 유전자 알고리즘을 이용하는 기존의 알고리즘보다 우수하고, 수렴 속도도 빠르다는 것을 컴퓨터 시뮬레이션을 통해 확인한다. 이 결과는 대부분의 출발지와 도착지 쌍에 대해 기존의 유전자 알고리즘 기반의 최단 경로 라우팅 알고리즘에 비해 네트워크 토폴로지에 비교적 덜 민감한 것으로 나타난다.

Genetic and Expression Analysis of the SIRT1 Gene in Gastric Cancers

  • Zhang, Cao;Song, Jae-Hwi;Kang, Young-Whi;Yoon, Jung-Hwan;Nam, Suk-Woo;Lee, Jung-Young;Park, Won-Sang
    • Journal of Gastric Cancer
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    • 제10권3호
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    • pp.91-98
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    • 2010
  • Purpose: Silent mating-type information regulation 2 homologue 1 (SIRT1) is a nicotinamide adenine dinucleotide-dependent deacetylase. SIRT1 plays an important role in the regulation of cell death/survival and stress response in mammals. The aim of this study was to investigate whether the SIRT1 gene is involved in the development or progression of gastric cancers. Materials and Methods: SIRT1 and p53 genes in 86 gastric cancers were examined for genetic alterations by PCR-single strand conformation polymorphism sequencing, as well as SIRT1 protein expression in 170 gastric cancers by immunohistochemistry. Results: In the genetic analysis, we found SIRT1 and p53 mutations in two and 12 cases, respectively. Two missense mutations, c.599 C>T (T200I) and c.1258 G>A (E420K), were detected in the SIRT1 gene coding region. The SIRT1 and p53 mutation were found in mutually exclusive gastric cancers. The immunohistochemistry revealed that SIRT1 overexpression was found in 95 (55.9%) of 170 gastric cancers. Altered SIRT1 expression was not statistically associated with clinicopathological parameters, including tumor differentiation, location, lymph node metastasis, or p53 expression. Two cases with an SIRT1 mutation showed increased SIRT1 expression. Conclusions: These results suggest that genetic alterations and overexpression of the SIRT1 gene may contribute to gastric cancer development.

Hereditary Breast Cancer in Korea

  • Kim, Sung-Won
    • Journal of Genetic Medicine
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    • 제9권1호
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    • pp.1-10
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    • 2012
  • About 7% of all breast cancer (BC) cases result from a genetic predisposition, and approximately 1,000 patients develop hereditary BC (HBC) every year in Korea. BRCA1 and BRCA2 are the primary genes underlying HBC. The average cumulative risks in BRCA1 mutation carriers at 70 years of age are 65% (95% confidence interval 44-78%) for BC and 39% (18-54%) for ovarian cancer (OC). The corresponding estimates for BRCA2 are 45% (31-56%) and 11% (2.4-19%), respectively. The penetrance of BRCA mutations is not the same between patients and can depend on factors such as race and birth-cohort. The Korean Hereditary Breast Cancer (KOHBRA) study is a large prospective nationwide study that includes 39 participating centers. Between May 2007 and May 2010, the first phase of the KOHBRA study was planned and fulfilled successfully. The primary aim of phase I was to estimate the prevalence of BRCA1/2 mutations and OC among a high-risk group of patients with HBC and their families. According to data collected during phase I of the study, the prevalence and penetrance of BRCA mutations were comparable to corresponding data from Western countries. For the second phase of the KOHBRA study, we are currently investigating a Korean BRCA mutation prediction model, prognostic factors in BRCA-related BC, environmental/genetic modifiers, and implementing a genetic counseling network. The final goal of the KOHBRA study is to create clinical practice guidelines for HBC in Korea. In this article, I review the genetics of HBC, summarize the characteristics of Korean HBC, and discuss current and future HBC research in Korea.

A case of Noonan syndrome diagnosed using the facial recognition software (FACE2GENE)

  • Kim, Soo Kyoung;Jung, So Yoon;Bae, Seong Phil;Kim, Jieun;Lee, Jeongho;Lee, Dong Hwan
    • Journal of Genetic Medicine
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    • 제16권2호
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    • pp.81-84
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    • 2019
  • Clinicians often have difficulties diagnosing patients with subtle phenotypes of Noonan syndrome phenotypes. Facial recognition technology can help in the identification of several genetic syndromes with facial dysmorphic features, especially those with mild or atypical phenotypes. A patient visited our clinic at 5 years of age with short stature. She was administered growth hormone treatment for 6 years, but her growth curve was still below the 3rd percentile. She and her mother had wide-spaced eyes and short stature, but there were no other remarkable features of a genetic syndrome. We analyzed their photographs using a smartphone facial recognition application. The results suggested Noonan syndrome; therefore, we performed targeted next-generation sequencing of genes associated with short stature. The results showed that they had a mutation on the PTPN11 gene known as the pathogenic mutation of Noonan syndrome. Facial recognition technology can help in the diagnosis of Noonan syndrome and other genetic syndromes, especially in patients with mild phenotypes.

The Homeobox and Genetic Disease: Structure and Dynamics of Wild Type and Mutant Homeodomain Proteins

  • Ferretti, James A.
    • BMB Reports
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    • 제34권1호
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    • pp.1-7
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    • 2001
  • Structural and physical properties of type wild type and various selected mutants of the vnd/NK-2 homeodomain, the protein product of the homeobox, and the implication in genetic disease are reviewed. The structure, dynamics and thermodynamics have been Investigated by NMR and by calorimetry. The interactions responsible for the nucleotide sequence-specific binding of the homeodomain to its consensus DNA binding site have been identified. There is a strong correlation between significant structural alterations within the homeodomain or its DNA complex and the appearance of genetic disease. Mutations in positions known to be important in genetic disease have been examined carefully For example, mutation of position 52 of vnd/NK-2 results in a significant structural modification and mutation of position 54 alters the DNA binding specificity and amity The $^{15}N$ relaxation behavior and heteronuclear Overhauser effect data was used to characterize and describe the protein backbone dynamics. These studies were carried out on the wild type and the double mutant proteins both in the free and in the DNA bound states. Finally, the thermodynamic properties associated with DNA binding are described for the vnd/NK-2 homeodomain. These thermodynamic measurements reinforce the hypothesis that water structure around a protein and around DNA significantly contribute to the protein-DNA binding behavior. The results, taken together, demonstrate that structure and dynamic studies of proteins combined with thermodynamic measurements provide a significantly more complete picture of the solution behavior than the individual studies.

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유전자 알고리듬을 이용한 트러스/보 구조물의 기하학적 치수 및 토폴로지 최적설계에 관한 연구 (A study on the optimal sizing and topology design for Truss/Beam structures using a genetic algorithm)

  • 박종권;성활경
    • 한국정밀공학회지
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    • 제14권3호
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    • pp.89-97
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    • 1997
  • A genetic algorithm (GA) is a stochastic direct search strategy that mimics the process of genetic evolution. The GA applied herein works on a population of structural designs at any one time, and uses a structured information exchange based on the principles of natural selection and wurvival of the fittest to recombine the most desirable features of the designs over a sequence of generations until the process converges to a "maximum fitness" design. Principles of genetics are adapted into a search procedure for structural optimization. The methods consist of three genetics operations mainly named selection, cross- over and mutation. In this study, a method of finding the optimum topology of truss/beam structure is pro- posed by using the GA. In order to use GA in the optimum topology problem, chromosomes to FEM elements are assigned, and a penalty function is used to include constraints into fitness function. The results show that the GA has the potential to be an effective tool for the optimal design of structures accounting for sizing, geometrical and topological variables.variables.

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강화학습에 의한 유전자 프로그래밍의 성능 개선 (Performance Improvement of Genetic Programming Based on Reinforcement Learning)

  • 전효병;이동욱;심귀보
    • 한국지능시스템학회논문지
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    • 제8권3호
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    • pp.1-8
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    • 1998
  • 본 논문에서는 유전자 프로그래밍의 성능을 향상시키기 위하여 강화학습법에 기반한 강화 유전자 프로그래밍을 제안한다. 트리구조와 프로그램을 염색체로 가지는 유전자 프로그래밍(GP)은 다른 진화 알고리즘에 비해 염색체의 크기에 제한이 없기 때문에 표현력에 융통성이 많다는 장점이 있다. 그러나 이러한 특징은 반대고 교차 및 돌연변이 연산에 있어서 수렴성을 떨어뜨리는 단점을 나타낸다. 따라서 유전자 프로그래밍은 다른 진화알고리즘에 비해 개체군의 크기 및 진화 세대수를 크게 잡는 것이 일반적이다. 본 논문에서는 유전자 프로그래밍의 이러한 성질을 개선하기 위해서 프로그램에 강화신호를 주어 이것의 보답/벌칙의 정도에 기반한 교차 및 돌연번이 연산을 실행하는 방법을 제안한다. 제안된 방법은 인공개미(Artificial Ant)문제에 적용하여 그 유효성을 입증한다.

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