• 제목/요약/키워드: Mutation

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High Feasibility of Liquid-Based Cytological Samples for Detection of EGFR Mutations in Chinese Patients with NSCLC

  • Wu, Chun-Yan;Hou, Li-Kun;Ren, Sheng-Xiang;Su, Bo;Chen, Gang
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권18호
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    • pp.7885-7889
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    • 2014
  • Background: Activating mutations of epidermal growth factor receptor (EGFR) could predict response to tyrosine kinase inhibitor (TKI) treatment in patients with non-small cell lung cancer (NSCLC). However, the detection of EGFR mutation is frequently challenging in clinical practice for the lack of tumor tissue. The aim of this study was to investigate the feasibility of performing EGFR mutation testing on various types of liquid-based cytology (LBC) samples. Materials and Methods: A total of 434 liquid-based cytology samples were collected from March 2010 and November 2013. Among them, 101 with diagnosis of lung adenocarcinoma had paired surgically resected specimens. The ADx Amplification Refractory Mutation System (ADx-ARMS) was used to determine EGFR mutation status both in LBC and resected samples. Results: All liquid-based cytology samples were adequate for EGFR mutation analysis. The mutation rate was 50.5% in the 434 NSCLC patients with LBC samples and the incidence rates of EGFR mutation were consistent among different specimens. We also detected EGFR positives in 52.5% (53/101) patients with paired histologic specimens. The concordance rate of EGFR mutation between LBC samples and paired histologic specimens was 92.1%. Conclusions: Our results suggest that liquid-based cytology samples are highly reliable for EGFR mutation testing in patients with NSCLC.

Mutagen4J: 효과적인 Java 프로그램 변이 생성 도구 (Mutagen4J: Effective Mutant Generation Tool for Java Programs)

  • 전이루;김윤호;홍신;김문주
    • 정보과학회 논문지
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    • 제43권9호
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    • pp.974-982
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    • 2016
  • 프로그램 변이 분석은 분석대상 프로그램의 코드를 변형한 다양한 프로그램 변이를 활용해 분석대상 프로그램의 특성을 분석하는 기법이다. 효과적인 변이 분석을 위해서는 분석대상 프로그램의 동작을 다양하게 변화시키는 유용한 변형 연산자의 사용이 필수적이다. 현재까지 Java 프로그램을 대상으로 제안된 변이 생성 도구들은 변형 연산자의 종류가 제한적이거나, 최근 Java 언어 요소로 작성된 분석대상 프로그램의 경우 올바른 변이 생성을 지원하지 못하는 한계가 있다. 본 논문은 Java 프로그램을 위한 새로운 변이 생성 도구 Mutagen4J를 소개한다. Mutagen4J는 기존 연구를 통해 유용한 것으로 알려진 프로그램 변형 연산자를 추가로 지원하며, 최근 Java 언어요소를 처리함으로써, Java 프로그램에 대한 효과적인 변이 분석을 지원한다. 기존 Java 프로그램 변이 생성 도구와 비교 실험을 수행한 결과, Mutagen4J이 기존 도구보다 유용한 변이를 평균 2.3배 생성하였다.

자가적응 유전자 알고리즘 프로세서의 VLSI 구현 (VLSI Implementation of Adaptive mutation rate Genetic Algorithm Processor)

  • 허인수;이주환;조민석;정덕진
    • 대한전자공학회:학술대회논문집
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    • 대한전자공학회 2001년도 하계종합학술대회 논문집(3)
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    • pp.157-160
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    • 2001
  • This paper has been studied a Adaptive Mutation rate Genetic Algorithm Processor. Genetic Algorithm(GA) has some control parameters such as the probability of bit mutation or the probability of crossover. These value give a priori by the designer There exists a wide variety of values for for control parameters and it is difficult to find the best choice of these values in order to optimize the behavior of a particular GA. We proposed a Adaptive mutation rate GA within a steady-state genetic algorithm in order to provide a self-adapting mutation mechanism. In this paper, the proposed a adaptive mutation rate GAP is implemented on the FPGA board with a APEX EP20K600EBC652-3 devices. The proposed a adaptive mutation rate GAP increased the speed of finding optimal solution by about 10%, and increased probability of finding the optimal solution more than the conventional GAP

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Homocysteine 과다증과 관련된 반복 자연유산에서 Methylenetetrahydrofolate Reductase돌연변이에 대한 분석 (The Analysis of Methylenetetrahydrofolate Reductase Mutation in Recurrent Spontaneous Abortion Associated with Hyperhomocysteinemia)

  • 남윤성;최종순;하권수;이지원;오도연
    • Clinical and Experimental Reproductive Medicine
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    • 제26권3호
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    • pp.441-445
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    • 1999
  • Objective: To analyze the methylenetetrahydrofolate reductase (MTHFR) mutation in recurrent spontaneous abortion associated with hyperhomocysteinemia. Material and Method: The blood sample of habitual aborter with high fasting homocysteine level was tested by PCR - RFLP method. Results: The patient was found to be a homozygosity for MTHFR gene mutation that was confirmed by the finding which is consistent with the mutation at the nucleotide 677 C to T, corresponding to Ala to Val. Conclusions: Hyperhomocysteinemia due to MTHFR mutation is a cause of recurrent spontaneous abortion. Therefore, the MTHFR mutation should be examined in the workup of recurrent spontaneous abortion showing hyperhomocysteinemia.

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Mutation Breeding of Mushroom by Radiation

  • Sathesh-Prabu, Chandran;Lee, Young-Keun
    • 방사선산업학회지
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    • 제5권4호
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    • pp.285-295
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    • 2011
  • Mushrooms belonging to macrofungi have been consumed by humans for their nutritional and medicinal values for centuries throughout the world. Mushroom farming is practiced in more than 100 countries of the world, with production increasing at a rate of 7% per annum. High yield and good quality are always the principal goals for agriculturally important crops, including mushrooms. Several breeding methods are employed for strain improvement such as mass selection based on the natural chance mutation and induced mutation (mutation breeding), protoplast fusion technology, cross breeding and transgenic breeding. However, mutation breeding has shown prominent success in crop plant improvement. Though several-hundred mutant crop varieties have been developed around the world, the mutation breeding of mushrooms is limited. This review paper explores the potential application of radiation on the development of mutant varieties of mushrooms for breeding with desired traits such as better quality and productivity.

클래스 수준 뮤테이션 분석을 위한 동등 뮤턴트 검출 기법 (An Equivalent Mutation Detection Method for Class-Level Mutation Analysis)

  • 장원호;마유승;권용래
    • 한국정보과학회논문지:컴퓨팅의 실제 및 레터
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    • 제16권5호
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    • pp.571-575
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    • 2010
  • 클래스 수준 뮤테이션 분석(class-level mutation analysis)의 경우, 동등 뮤턴트(equivalent mutant)는 전체 뮤턴트들의 개수에서 많은 비중을 차지하기 때문에 동등 뮤턴트의 검출은 뮤테이션 수행 비용 절감에 매우 중요하다. 하지만 현재까지 클래스 수준 뮤테이션을 대상으로 동등 뮤턴트를 검출하는 연구는 미미한 실정이다. 본 논문에서는 클래스 수준 뮤테이션을 대상으로 의존성 그래프(dependency graph)를 이용하여 동등 뮤턴트를 검출하기 위한 기법을 제안한다. 제안한 기법은 인트라-클래스(intra-class) 수준에서 정적분석을 수행함으로써 인트라-메소드(intra-method) 수준의 분석 방법을 사용하는 기존의 연구들이 검출할 수 없었던 클래스 수준 동등 뮤턴트를 검출할 수 있었다.

포유동물세포의 Forward Mutation을 지표로 한 Mouse Lymphoma Thymidine Kinase (tk+/-) Gene Assay (In vitro Mouse Lymphoma Thymidine Kinase (tk+/-) Gene Forward Mutation Assay in Mammalian cells)

  • 류재천;김경란;최윤정
    • 한국환경성돌연변이발암원학회지
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    • 제19권1호
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    • pp.7-13
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    • 1999
  • The mouse lymphoma thymidine kinase (tk+/-) gene assay (MOLY) using L5178Y tk+/- mouse lymphoma cell line is one of the mammalian forward mutation assays. It is well known that MOLY has many advantages and more sensitive than the other mammalian forward mutation assays such as x-linked hyposanthine phosphoribosyltransferase (hprt) gene assay. The target gene of MOLY is a heterozygous tk+/- gene located in 11 chromosome of L5178Y tk+/- cell, so it is able to detect the wide range of genetic changes like point mutation, deletion, rearrangement, and mitotic recombination within tk gene or deletion of entire chromosome 11. MOLY has relatively short expression time (2-3 days) compared to 1 week of hprt gene assay. MOLY can also induce relatively high mutant frequency so a large number of events can be recorded. The bimodal distribution of colony size which may indicate gene mutation and chromosome breakage potential of chemicals according to mutation scale such as large normal-growing mutants and small slow-growing mutants can be observed in this assay. The statistical analysis of data can be performed using the MUTANT program developed by York Electronic Research in association with Hazelton as recommended by the UKEMS (United Kingdom Environmental Mutagen Society) guidelines. This report reviewed MOLY using the microtiter cloning technique (microwell assay).

Evaluation of Pyrosequencing Method for a BRAFV600E Mutation Test

  • Oh, Seo Young;Lee, Hoon Taek
    • 대한임상검사과학회지
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    • 제47권1호
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    • pp.17-23
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    • 2015
  • A fine needle aspiration biopsy (FNAB) is the primary means of distinguishing benign from malignant in thyroid nodules. However, between 10 and 30% of the FNABs of thyroid nodules are diagnosed as 'indeterminate'. A molecular method is needed to reduce unnecessary surgery in this group. In Korea, most thyroid cancer is classic papillary type and BRAFV600E mutation is highly prevalent. Thus, this study compared the pyrosequencing method with the conventional direct DNA sequencing and PCR-RFLP analysis and investigated the evaluation of preoperative BRAFV600E mutation analysis as an adjunct diagnostic method with routine FNABs. Sixty-five (78.3%) of 83 histopathologically diagnosed malignant nodule revealed positive BRAFV600E mutation on pyrosequencing analysis. In detail, 65 (83.8%) of 78 papillary thyroid carcinomas sample showed positive BRAFV600E mutation. None of 29 benign nodules had in pyrodequencing, direct DNA sequencing and PCR-RFLP. Out of 31 thyroid nodules classified as 'indeterminate' on cytological examination preoperatively, 28 cases turned out to be malignant: 24 papillary thyroid carcinomas. Among that, 16 (66.7%) classic papillary thyroid carcinomas had BRAFV600E mutation. Among 65 papillary thyroid carcinomas with positive BRAFV600E mutation detected by pyrosequencing analysis, each 3 cases and 5 cases did not show BRAFV600E mutation by direct DNA sequencing and PCR-RFLP analysis. Therefore, pyrosequencing was superior to direct DNA sequencing and PCR-RFLP in detecting the BRAFV600E mutation of thyroid nodules (p =0.027). Detecting BRAFV600E mutation by pyrosequencing was more sensitivity, faster than direct DNA sequencing or PCR-RFLP.

Detection of Human Cytomegalovirus UL97 D605E Mutation in Korean Stem Cell Transplantation Recipients and Donors

  • Lee, Gyu-Cheol;Choi, Su-Mi;Lee, Chan Hee;Lee, Dong-Gun;Choi, Jung-Hyun;Yoo, Jin-Hong
    • Journal of Microbiology and Biotechnology
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    • 제23권8호
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    • pp.1154-1158
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    • 2013
  • Ganciclovir resistance of human cytomegalovirus is associated with mutations in the viral UL97 gene and poses severe problems for immunocompromised patients. In this study, PCR-based restriction fragment length polymorphism and sequencing analyses detected the UL97 D605E mutation in all five clinical isolates from patients with ganciclovir-resistant human cytomegalovirus infection during prolonged ganciclovir therapy, whereas the M460V mutation was only present in 1 of 5 isolates. On the other hand, the detection rates of the D605E mutation in the stored available DNA samples from the donor and allogeneic stem cell transplantation recipients were 66.7% and 93.7%, respectively, suggesting that the presence of D605E mutation was not associated with the ganciclovir exposure. Although the D605E mutation may not be related to ganciclovir resistance, we suggest that this mutation could be an important molecular marker of human cytomegalovirus evolution in East Asian countries. Moreover, the restriction fragment length polymorphism method using the restriction enzyme HaeIII, which is generally used to detect the UL97 A591V mutation, could also detect the D605E mutation and may therefore be a useful tool for future research on the investigation of UL97 gene mutations.

코시 분포의 축척 매개변수를 추정하여 돌연변이 연산에 적용한 진화 프로그래밍 (Evolutionary Programming of Applying Estimated Scale Parameters of the Cauchy Distribution to the Mutation Operation)

  • 이창용
    • 한국정보과학회논문지:소프트웨어및응용
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    • 제37권9호
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    • pp.694-705
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    • 2010
  • 진화 프로그래밍은 실수형 최적화 문제에 널리 사용되는 알고리즘으로 돌연변이 연산이 중요한 연산이다. 일반적으로 돌연변이 연산은 확률 분포와 이에 따른 매개변수를 사용하여 변수값을 변화시키는데, 이 때 매개변수 역시 돌연변이 연산의 대상이 됨으로 이를 위한 또 다른 매개변수가 필요하다. 그러나 최적의 매개변수 값은 주어진 문제에 전적으로 의존하기 때문에 매개변수 개수가 많은 경우 매개변수값들에 대한 최적 조합을 찾기 어렵다. 이러한 문제를 부분적으로나마 해결하기 위하여 본 논문에서는 변수의 돌연변이 연산을 위한 매개변수를 자기 적응적 관점에서 이론적으로 추정한 돌연변이 연산을 제안하였다. 제안한 알고리즘에서는 코시 확률 분포의 축척 매개변수를 추정하여 돌연변이 연산에 적용함으로 축척 매개변수에 대한 돌연변이 연산이 필요하지 않다는 장점이 있다. 제안한 알고리즘을 벤치마킹 문제에 적용한 실험 결과를 통해 볼 때, 최적값 측면에서는 제안한 알고리즘의 상대적 우수성은 벤치마킹 문제에 의존하였으나 계산 시간 측면에서는 모든 벤치마킹 문제에 대하여 제안한 알고리즘이 우수하였다.