• 제목/요약/키워드: mutation rate

검색결과 349건 처리시간 0.026초

THE APPLICATION OF STOCHASTIC DIFFERENTIAL EQUATIONS TO POPULATION GENETIC MODEL

  • Choi, Won;Choi, Dug-Hwan
    • 대한수학회보
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    • 제40권4호
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    • pp.677-683
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    • 2003
  • In multi-allelic model $X\;=\;(x_1,\;x_2,\;\cdots\;,\;x_d),\;M_f(t)\;=\;f(p(t))\;-\;{\int_0}^t\;Lf(p(t))ds$ is a P-martingale for diffusion operator L under the certain conditions. In this note, we examine the stochastic differential equation for model X and find the properties using stochastic differential equation.

정신장애의 진화유전학적 모델 (Evolutionary Genetic Models of Mental Disorders)

  • 박한선
    • 생물정신의학
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    • 제26권2호
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    • pp.33-38
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    • 2019
  • Psychiatric disorder as dysfunctional behavioural syndrome is a paradoxical phenomenon that is difficult to explain evolutionarily because moderate prevalence rate, high heritability and relatively low fitness are shown. Several evolutionary genetic models have been proposed to address this paradox. In this paper, I explain each model by dividing it into selective neutrality, mutation-selection balance, and balancing selection hypothesis, and discuss the advantages and disadvantages of them. In addition, the feasibility of niche specialization and frequency dependent selection as the plausible explanation about the central paradox is briefly discussed.

한국의 젊은 여성유방암 환자에서 BRCA 배선유전자 돌연변이는 예후인자인가? (Is the BRCA Germline Mutation a Prognostic Factor in Korean Patients with Early-onset Breast Carcinomas?)

  • 최두호;이민혁
    • Radiation Oncology Journal
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    • 제21권2호
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    • pp.149-157
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    • 2003
  • 목적: 한국인 젊은 여성 유방암 환자에서 유방암 유전자 (BRCA)가 예후인자가 될 수 있는지 알아보기 위하여 본 연구를 시행하였다. 대상 및 방법: 대학병원에서 치료를 받은 환자 중에서 유방암이나 난소암의 가족력과 관계없이 40세 이하의 환자를 선택하였다. 환자의 나이는 18~40세이었고 중앙값은 34.5세이었다. 환자의 말초혈액에서 림프구를 모아 DNA를 추출하였으며 BRCA1과 BRCA2의 모든 염기 중에서 기능과 관계 있는 부위의 DNA를 직접염기서열 결정방식으로 검사하였다. 조직표본 검사가 가능한 환자는 면역화학조직검사를 시행하였다. 대상 및 방법: 60명의 환자 중에서 유방암 발생과 직접 관계가 있는 돌연변이가 11개(18.3%) 있었고(BRCA1 6명, BRCA2 5명), 의미를 알기가 곤란한 돌연변이가 7개 있었으며 반 수 이상의 돌연변이는 이제까지 보고되지 않은 것이었다. 그리고 대부분의 돌연변이 환자는 유방암이나 난소암의 가족력이 관찰되지 않았다. 유방암 유전자 돌연변이 환자는 한 명도 치료의 실패가 없었으며 한 면에서 반대측 유방암이 발생하였다. 7년 무병 생존율은 돌연변이 환자에서 50%, 돌연변이와 관계가 없는 환자에서 79%이었고 차이는 없었다. BRCA 관련 종양에서 에스트로젠, 프로제스테론 수용체 음성의 비율이 높았으며 조직학적 분화도가 낮았으나 예후는 비교대상에 비해 나쁘지 않았다. 결론: 한국의 젊은 여성 유방암 환자는 예후가 인자가 있어도 재발률이 낮았으며 유전자 돌연변이 이환율이 높았으나 암의 발현율은 상대적으로 낮은 것으로 추정되었다 이 결과를 확인하기 위해 더 많은 환자 집단과 오랜 추적기간의 연구가 필요하다.

역할극을 활용한 지구 온난화와 생태계 변화에 관한 수업이 고등학생들의 학업 성취도와 환경적 태도에 미치는 효과 (Effects of Role-Play Method Related to the Global Warming and Ecosystem on High School Students' Knowledge Achievement as well as the Attitude towards Environment)

  • 김동렬;손연아;문두호
    • 한국환경교육학회지:환경교육
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    • 제21권4호
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    • pp.12-24
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    • 2008
  • In this research, we have carried out an experiment with grade 10 students. Students will be choosing their roles and creating their own script in relation to the environmental problems such as the seriousness of global wanning and the mutation of ecosystem. Throughout this process, they will come up with a solution to the problem In addition, we will assess students' knowledge achievement as well as the changes in attitudes toward environment, and analyze whether the role-play method of education is efficient or not. According to the research result, we have confirmed that the method of role-play as a education tool was more efficient than the traditional lecturing method. Students experienced higher rate of knowledge acquisition and more optimistic effects on their attitudes toward the mutation of ecosystem and also the seriousness of the global wanning. Students also pointed out in the interview that the role-play allowed them to share their thoughts with other classmates, which were not carried out frequently in the traditional education system In addition, each member of groups could participate cooperatively with teammates, which ultimately helped them to develop scientific and introspective ways of thinking.

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c-KIT Positive Schistosomal Urinary Bladder Carcinomas are Frequent but Lack KIT Gene Mutations

  • Shams, Tahany M.;Metawea, Mokhtar;Salim, Elsayed I.
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권1호
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    • pp.15-20
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    • 2013
  • Urinary bladder squamous cell carcinoma (SCC), one of the most common neoplasms in Egypt, is attributed to chronic urinary infection with Schistosoma haematobium (Schistosomiasis). The proto-oncogene c-KIT, encoding a tyrosine kinase receptor and implicated in the development of a number of human malignancies, has not been studied so far in schistosomal urinary bladder SCCs. We therefore determined immunohistochemical (IHC) expression of c-KIT in paraffin sections from 120 radical cystectomies of SCCs originally obtained from the Pathology Department of Suez Canal University (Ismailia, Egypt). Each slide was evaluated for staining intensity where the staining extent of >10% of cells was considered positive. c-KIT overexpression was detected in 78.3% (94/120) of the patients, the staining extents in the tumor cells were 11-50% and >50% in 40 (42.6%) and 54 (57.4%) respectively. The positive cases had 14.9%, 63.8%, 21.3% as weak, moderate and strong intensity respectively. Patients with positive bilharzial ova had significantly higher c-KIT expression than patients without (95.2% vs. 38.9%, P=0.000). Mutation analysis of exons 9-13 was negative in thirty KIT positive cases. The high rate of positivity in SBSCC was one of the striking findings; However, CD117 may be a potential target for site specific immunotherapy to improve the outcome of this tumor.

딸기로부터 분리된 Fusarium oxysporum nit 변이주의 특성과 안정성 및 재분리 (Characteristics, Stability and Reisolation of nit Mutant of Fusarium oxysporum from Strawberry)

  • 신동범;홍연규;조재민
    • 한국식물병리학회지
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    • 제14권6호
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    • pp.583-588
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    • 1998
  • This study was conducted to investigate the potential of nitrate-nonutilizing mutants (nit mutants) in ecological studies of Fusarium disease of strawberry. Nit mutants of Fusarium oxysporum from strawberry were easily formed on chlorate-containing media. Nit mutants were assigned to three phenotypic classes, nit1, nit3, and NitM, on the basis of their growth on media containing one of the following five different nitrogen sources ; nitrate, nitrite, hypoxanthine, ammonium and uric acid. Frequency of nit mutation and proportion of three phenotypes of nit mutants depended on the isolate. Mutation rate was 45.6% and ranged from 15.0% to 95.0%. The frequency of nit1 mutants was higher than that of nit3 or NitM. The complementary reaction between nit1 and NitM was higher than that of other combination. There has been no complementary response observed between nit3 and nit3. The nit mutants showed similar growth pattern as the that of wild type isolate on potato sucrose agar and potato sucrose liquid media. Most of the mutants retained pathogenicity, and maintained their phenotypes even after two year preservation through subculture on slanted PSA at room temperature. Nit mutants were selctively isolated from infested soil and infected plants on the selective medium (MMCPA) containing potassium chlorate with their original phenotypes, while naturally occurring isolates of Fusarium oxysporum were not grow on the medium. On the contrary, nit mutants showed very slight growth on the medium (MMPA) containing nitrate as a sole nitrogen source, and therefore could be distinguished from wild type isolate.

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An Active Site Arginine Residue in Tobacco Acetolactate Synthase

  • Kim, Sung-Ho;Park, En-Joung;Yoon, Sung-Sook;Choi, Jung-Do
    • Bulletin of the Korean Chemical Society
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    • 제24권12호
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    • pp.1799-1804
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    • 2003
  • Acetolatate synthase(ALS) catalyzes the first common step in the biosynthesis of valine, leucine, isoleucine in plants and microorganisms. ALS is the target of several classes of herbicides, including the sulfonylureas, the imidazolinones, and the triazolopyrimidines. To elucidate the roles of arginine residues in tobacco ALS, chemical modification and site-directed mutagenesis were performed. Recombinant tobacco ALS was expressed in E. coli and purified to homogeneity. The ALS was inactivated by arginine specific reagents, phenylglyoxal and 2,3-butanedione. The rate of inactivation was a function of the concentration of modifier. The inactivation by butanedione was enhanced by borate, and the inactivation was reversible on removal of excess butanedione and borate. The substrate pyruvate and competitive inhibitors fluoropyruvate and phenylpyruvate protected the enzyme against inactivation by both modifiers. The mutation of well-conserved Arg198 of the ALS by Gln abolished the enzymatic activity as well as the binding affinity for cofactor FAD. However, the mutation of R198K did not affect significantly the binding of FAD to the enzyme. Taken together, the results imply that Arg198 is essential for the catalytic activity of the ALS and involved in the binding of FAD, and that the positive charge of the Arg is crucial for the interaction with negatively charged FAD.

Prevalence of negative frequency-dependent selection, revealed by incomplete selective sweeps in African populations of Drosophila melanogaster

  • Kim, Yuseob
    • BMB Reports
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    • 제51권1호
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    • pp.1-2
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    • 2018
  • Positive selection on a new beneficial mutation generates a characteristic pattern of DNA sequence polymorphism when it reaches an intermediate allele frequency. On genome sequences of African Drosophila melanogaster, we detected such signatures of selection at 37 candidate loci and identified "sweeping haplotypes (SHs)" that are increasing or have increased rapidly in frequency due to hitchhiking. Based on geographic distribution of SH frequencies, we could infer whether selective sweeps occurred starting from de novo beneficial mutants under simple constant selective pressure. Single SHs were identified at more than half of loci. However, at many other loci, we observed multiple independent SHs, implying soft selective sweeps due to a high beneficial mutation rate or parallel evolution across space. Interestingly, SH frequencies were intermediate across multiple populations at about a quarter of the loci despite relatively low migration rates inferred between African populations. This invokes a certain form of frequency-dependent selection such as heterozygote advantage. At one locus, we observed a complex pattern of multiple independent that was compatible with recurrent frequency-dependent positive selection on new variants. In conclusion, genomic patterns of positive selection are very diverse, with equal contributions of hard and soft sweeps and a surprisingly large proportion of frequency-dependent selection in D. melanogaster populations.

BREEDING EXPERIMENT ON MUTATION INDUCTION BY IRRADIATION (2) Effects of X-ray and Thermal Neutron Irradiation on Dry Seeds of Chinese Cabbage and Radish.

  • Kim, Dawng Woo;Kim, Yang Choon;Cho, Mi Kyung
    • Journal of Plant Biology
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    • 제5권1호
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    • pp.1-6
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    • 1962
  • 1) Germination rate was rather irregular than decreasing as increasing dose of radiation and there were no differences between Kyong-Sam and Chuong-Bang of Chinese cabbage. 2) In R1 generation, abnormal leaves from seedling of irradiated seeds were observed. These were more apparent in X-ray irradiation than in thermal neutron. 3) Seedling height was inhibited with increasing dose of X-ray and thermal neutrons. Growth inhibition was more remarkable in X-ray than in thermal neutron. Kyong-Sam demonstrated more sensitivity than Chyong-Bang in both X-ray and thermal neutron. 4) Seedling height produced from seeds subjected to thermal neutrons showed small variation around its mean value, while in X-irradiation there was a greater deviaton from the mean value. 5) Fertility was decreased as increasing with dose, while the frequency of abortive pollen was increased. There were variability of the fertility and frequency of abortive pollen among plants or branches of a plant. 6) The mutants were obtained more in thermal neutron irradiation than in X-ray. The types of mutations obtained in Chinese radish of R2 generation were abnormal leaf, densely glowing leaf, degeneration in growing point and dwarf. The maximum frequency of phenotypic mutations was abnormal leaf mutation.

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오염하천의 자동보정을 위한 QUAL2Kw 모형의 적용과 유전알고리즘의 매개변수에 관한 민감도분석 (Application of the QUAL2Kw model to a Polluted River for Automatic Calibration and Sensitivity Analysis of Genetic Algorithm Parameters)

  • 조재현
    • 환경영향평가
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    • 제20권3호
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    • pp.357-365
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    • 2011
  • The QUAL2K has the same basic characteristics as the QUAL2E model, which has been widely used in stream water quality modeling; in QUAL2K, however, various functions are supplemented. The QUAL2Kw model uses a genetic algorithm(GA) for automatic calibration of QUAL2K, and it can search for optimum water quality parameters efficiently using the calculation results of the model. The QUAL2Kw model was applied to the Gangneung Namdaecheon River on the east side of the Korean Peninsula. Because of the effluents from the urban area, the middle and lower parts of the river are more polluted than the upper parts. Moreover, the hydraulic characteristics differ between the lower and upper parts of rivers. Thus, the river reaches were divided into seven parts, auto-calibration for the multiple reaches was performed using the function of the user-defined automatic calibration of the rates worksheets. Because GA parameters affect the optimal solution of the model, the impact of the GA parameters used in QUAL2Kw on the fitness of the model was analyzed. Sensitivity analysis of various factors, such as population size, crossover probability, crossover mode, strategy for mutation and elitism, mutation rate, and reproduction plan, were performed. Using the results of this sensitivity analysis, the optimum GA parameters were selected to achieve the best fitness value.