• Title/Summary/Keyword: Mutation Rate

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p53 Gene Mutation in Gastric Cancer Tissue (위암조직에서 p53 유전자의 돌연변이)

  • Ku, Ki-Beom;Park, Seong-Hoon;Cheong, Ho-Young;Lee, Myung-Hoon;Yu, Wan-Sik
    • Journal of Gastric Cancer
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    • v.6 no.4
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    • pp.214-220
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    • 2006
  • Purpose: p53 is one of the most commonly mutated genes in human tumors. The aim of this study was to analyze p53 mutation in gastric cancer and its correlations with the clinicopathologic variables to clarify the usefulness of p53 mutation as a prognostic factor. Materials and Methods: Specimens from 331 patients with gastric cancer who underwent a gastrectomy between March 1999 and April 2001 at the Kyungpook National University Hospital were used. p53 gene mutations were assessed by using a polymerase chain-reaction single-strand conformation polymorphism (PCR-SSCP) analysis. The correlations between p53 gene mutation and clinocopathologic parameters were analyzed. Results: p53 mutations were found in 66 (19.9%) tumors. Among those 66 cases, mutations were seen in 23 tumors at axon 5, in 8 at exon 6, in 21 at exon 7, and in 17 at exon 8. Two mutations were shown in 3 tumors. Thiriy-six (23.1%) of 156 intestinal-type tumors and 19 (13.1%) of 145 diffuse-type tumors showed p53 gene mutation (P=0.007). The frequency of p53 gene mutation didn't show any significant differences according to age, sex, stage, location, or gross type. Exon 5 mutations showed more frequently in intestinal-type tumors than in diffuse-type tumors (9.7% vs. 2.8%, P=0.024), and p53 mutation were more frequent in lymph nodes metastasis group than lymph nodes non-metastasis group with statistical significance (25.0% vs 15.6%, P=0.034). The five-year survival rate showed no statistically significant difference with p53 mutation (P=0.704). Conclusion: p53 mutations assessed by PCR-SSCP had little value as a prognostic factor after gastrectomy in patients with gastric cancer.

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THE APPLICATION OF STOCHASTIC DIFFERENTIAL EQUATIONS TO POPULATION GENETIC MODEL

  • Choi, Won;Choi, Dug-Hwan
    • Bulletin of the Korean Mathematical Society
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    • v.40 no.4
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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.

Evolutionary Genetic Models of Mental Disorders (정신장애의 진화유전학적 모델)

  • Park, Hanson
    • Korean Journal of Biological Psychiatry
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    • v.26 no.2
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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.

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

  • Choi Doo Ho;Lee Min Hyuk;Haffty Bruce G.
    • Radiation Oncology Journal
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    • v.21 no.2
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    • pp.149-157
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    • 2003
  • Purpose: The purpose of this study was to determine if there were prognostic differences between BRCA related and BRCA non-related Korean patients with early-onset breast carcinomas. Materials and Methods: Sixty women who had developed breast cancers before the age of 40, and who were treated at the Soonchunhyang University Hospital, were studied independently of their family histories. The age range was 18 to 40 with a median of 34.5 years. Lymphocyte specimens from peripheral blood were studied for the heterozygous mutations of BRCA1 and BRCA2 using direct sequencing methods. Immunohistochemistry was peformed on the paraffin-embedded tissue blocks that were available. Results: Eleven deleterious mutations (18.3%, 6 in BRCA1 and 5 in BRCA2) and 7 missense mutations of unknown significance (11.7%), were found among the 60 patients. More than half of the mutation were novel, and were not reported in the database. Most of the BRCA-associated patients had no history of breast cancer. No treatment related failures were observed in the BRCA carriers, with the exception of one patient that had experienced a new primary tumor of the contralateral breast. The seven year relapse free survival rate were 50 and 79% In the BRCA carrier and BRCA negative patients, respectively. Although the expression of estrogen and progesterone receptors were less common, and histological features more aggressive, in the BRCA associated tumors, the outcome of the patients with BRCA mutations was not poorer than that on the patients without deleterious mutations. Conclusion.: Despite the BRCA mutation carriers having adverse prognostic features, the recurrence rate was relatively lower than that in the BRCA non-carrying Korean patients wi4h early-onset breast carcinomas. In addition, although the prevalence of the BRCA mutation in Korean patients was higher than that in white patients, the penetrance of the cancer seemed to be relatively low in Korean women carrying BRCA mutations. A large population based study of the BRCA mutation, with a long-term follow-up of the study patients will be required to confirm these results.

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 (역할극을 활용한 지구 온난화와 생태계 변화에 관한 수업이 고등학생들의 학업 성취도와 환경적 태도에 미치는 효과)

  • Kim, Dong-Ryeul;Son, Yeon-A;Moon, Doo-Ho
    • Hwankyungkyoyuk
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    • v.21 no.4
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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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    • v.14 no.1
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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.

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

  • 신동범;홍연규;조재민
    • Korean Journal Plant Pathology
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    • v.14 no.6
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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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    • v.24 no.12
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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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    • v.51 no.1
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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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    • v.5 no.1
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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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