• Title/Summary/Keyword: MUT

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Hereditary Colorectal Cancer (유전성 대장암)

  • Kim, Duck-Woo
    • Journal of Genetic Medicine
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    • v.7 no.1
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    • pp.24-36
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    • 2010
  • Colorectal cancer is one of the most steeply increasing malignancies in Korea. Among 398,824 new patients recorded by the Korea Central Cancer Registry between 2003 and 2005, 47,915 cases involved colorectal cancers, accounting for 12.0 % of all malignancies. In 2002, total number of colorectal cancer cases had accounted for 11.2 % of all malignancies. Hereditary syndromes are the source of approximately 5% to 15% of overall colorectal cancer cases. Hereditary colorectal cancers are divided into two types: hereditary nonpolyposis colorectal cancer (HNPCC), and cancers associated with hereditary colorectal polyposis, including familial adenomatous polyposis (FAP), Peutz-Jeghers syndrome, juvenile polyposis, and the recently reported hMutYH (MYH)-associated polyposis (MAP). Hereditary colorectal cancers have unique clinical features distinct from sporadic cancer because these are due to germline mutations of the causative genes; (i) early age-of-onset of cancer, (ii) frequent association with synchronous or metachronous tumors, (iii) frequent association with extracolonic manifestations. The management strategy for patients with hereditary colorectal cancer is quite different from that for sporadic cancer. Furthermore, screening, genetic counseling, and surveillance for at-risk familial member are also important. A well-organized registry can plays a central role in the surveillance and management of families affected by hereditary colorectal cancers. Here, we discuss each type of hereditary colorectal cancer, focusing on the clinical and genetic characteristics, management, genetic screening, and surveillance.

A Study on the Aesthetic Values related to the Morality Expressed in Recent Korean Street Fashion (한국 스트리트 패션에서 도덕성과 관련한 미의식 변화에 관한 연구)

  • Ha, Ji-Soo
    • Journal of the Korean Society of Clothing and Textiles
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    • v.29 no.2
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    • pp.379-390
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    • 2005
  • Every Society has it's own ideology and lifestyle and these form its unique aesthetic experience or values. In the paper observing recent, especially in 1980s and 1990s. Korean street fashion that is one way of expressing their values and lifestyle, the aesthetic values related to the morality have been studied. Through the studies using the cafes of Korean street fashion style we can understand the change of morality and fashion style according to the change of socio-cultural environments more deeply. For study methods documentary study and case study were executed. Morality related clothing were defined in detail through documentary studies and for analysis of street fashion from 1980s and 1990s the cases from 'Mut' and 'Ceci' magazines as well as the articles from Chosunilbo, Dongailbo and Maeilkyungje were looked over one by one. By understanding the intrinsic meanings and formal features of resent Korean street fashion, the direction for future fashion designing could be guided, which could satisfy consumers' needs in the rapidly changing world situation. Followings are the results of the study. First, morality of clothing could be defined in detail regarding modesty and extravagance. Modesty could be directly related to exposure of body and norms for appearances and extravagance to fashion oriented, luxury goods or brand name oriented and spending. Second, the exposing body has been accepted and permitted by public even with criticism more easily but they were less generous to values about norms regarding clothing. Third, the change of morality related to modest has happened earlier than the change of morality related to extravagance, which has begun very recently in 2000s.

Development of Ultrasonic Testing System for Piping Welds (배관 용접부 초음파검사 시스템 개발)

  • Choi, Sung-Nam;Kim, Hyung-Nam;Yoo, Hyun-Ju;Cho, Hyun-Jun;Hwang, Won-Gul
    • Journal of the Korean Society for Nondestructive Testing
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    • v.28 no.4
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    • pp.331-338
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    • 2008
  • Ultrasonic testing for welds is widely used to ensure the integrity of facilities in NPPs. Automated ultrasonic testing(AUT) is more consistent than the manual ultrasonic testing(MUT). It can scan welded parts, examines the scanned images, and saves the results as data files. AUT in NPPs is making use of commercial systems, and there has been some difficulties in calibration of the system. An AUT system is developed. It comprises of pulser/receiver, scanner and a control program(SonicWizard). The performance demonstration for piping welds in NPPs and the piping wall thickness measurement on site were conducted to verify this system. The test results of the ultrasonic testing system developed is satisfactory and effective.

5,10-Methylenetetrahydrofolate reductase 677C>T polymorphism and microsatellite instability in sporadic colorectal cancer (산발성 현미부수체 불안정성 대장암의 임상적 의의 및 MTHFR 677C>T 유전자 다형성과의 관계)

  • Kwon, Su-kyung;Kim, Jong Woo;Kim, Nam Keun
    • Korean Journal of Clinical Oncology
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    • v.9 no.2
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    • pp.80-86
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    • 2013
  • Purpose: Hypermethylation of human mut L homologue 1 (hMLH1) promoter region is known to cause sporadic microsatellite instability (MSI) colorectal cancers. 5,10-methylenetetrahydrofolate reductase (MTHFR) is the key enzyme in folate metabolism, acting as a methyl donor for DNA methylation. In this study, we investigate whether the polymorphism of MTHFR 677C>T plays a role in the alteration of the promoter-specific hypermethylation, predisposing to MSI colorectal cancers. Methods: Total of 487 sporadic colorectal cancer patients in CHA Bundang Medical Center were collected. MSI was identified when two or more are positive among five microsatellite markers (BAT25, BAT26, D17S250, D5S346, D2S123). The others were classified as microsatellite stable (MSS). Polymorphism of MTHFR 677C>T was genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: MSI was observed in 65 of 487 patients (12.73%). MSI colorectal cancers showed similar clinicopathological features with previously reported; younger age onset, right-sided preponderance, mucinous and poorly differentiated histology, lower stage, fewer lymph node metastases than MSS tumors (each P<0.05). The frequency of MTHFR 677TT genotype was 17.7% in the MSI group higher than 14.6% in the MSS group (P=0.17). Although not statistically significant, compared to the MTHFR 677CC referent, MTHFR 677 CT+TT genotype was more likely to have MSI than MSS (odds ratio, 1.81; 95% confidence interval, 0.94 to 3.68; P=0.06). Conclusion: This study demonstrated higher frequency of MTHFR 677TT genotype in MSI colorectal cancers. Furthermore, individuals with MTHFR 677CT+TT variant type might potentially develop MSI rather than MSS colorectal cancers.

Taxonomic Characterization and Safety of Nuruk Molds Used Industrially in Korea (국내에 유통되는 종국 곰팡이의 분류학적 특성 및 안전성)

  • Hong, Seung-Beom;Hong, Sung-Yong;Jo, Kyu-Hong;Kim, Young-Sik;Do, Jong-Ho;Do, Ji-Young;Noh, Seok-Beom;Yoon, Han-Hong;Chung, Soo-Hyun
    • The Korean Journal of Mycology
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    • v.43 no.3
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    • pp.149-157
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    • 2015
  • We examined taxonomic characteristics and safety of eight Nuruk molds that are widely used for making soybean paste, soy sauce and alcoholic beverages in Korea. HK1 from Hakyeong Fermentation Co., SW101 from Suwon Fermentation Co., CF1001, CF1002, CF1003 from Chungmoo Fermaentation Co. and KACC 93210 are yellow-Nuruk molds, and SW201 from Suwon Fermentation Co. and CF1005 from Chungmoo Fermentation Co. are white-Nuruk molds. Six strains of yellow-Nuruk molds were identified as Aspergillus oryzae. HK1, SW101, CF1001 and CF1003 of yellow-Nuruk molds have middle length of stipes ($711{\sim}1,121{\mu}m$), and CF1003 (for sake) produced less conidia and more hyphae than HK1, SW101 and CF1001 (for soybean paste). CF 1002 used for soy sauce has shorter stipes ($543{\mu}m$) and is clustered into IBLB-group based on omtA gene analysis although the other yellow-Nuruk molds are clustered into ICAo group. KACC 93210 isolated from traditional Korean Meju has very short stipes (average $270{\mu}m$), and showed velvety colonies although the others showed floccose colonies. The strain has different DNA sequences of omtA gene from other strains in NCBI GenBank as well as strains used in Korea, suggesting that it is unique from other strains published. SW201 and CF1005 of white-Nuruk molds were identified as Aspergillus luchuensis or A. luchuensis mut. Kawachii that is known as safe, non-toxigenic fungus. The six strains of yellow-Nuruk molds did not produce mycotoxins including aflatoxin, cyclopiazonic acid, and sterigmatocystin. Therefore, eight strains of Nuruk molds used for making soy sauce, soybean paste and alcoholic beverages in Korea were proved to be safe in this study.

Inter Simple Sequence Repeats (ISSR) Marker Analysis of Genetic Diversity in Korean Phasianus colchicus karpowi and Genetic Relationships Among Subspecies of Phasianus spp. (Inter Simple Sequence Repeats (ISSR) 표지자를 이용한 한국꿩의 유전적 다양성 및 아종간의 유연관계 분석)

  • Yoon, Seong-Il
    • Korean Journal of Environmental Biology
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    • v.26 no.2
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    • pp.66-75
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    • 2008
  • The level of genetic diversity and genetic relationships among Korean ring-necked pheasant (Phasianus colchicus karpowi) habitat and subspecies have been investigated based on Inter Simple Sequence Repeat (ISSR) markers. Wild and domesticated Korean ring-necked pheasant, hybrids between domesticated Korean ring-necked and foreign subspecies, and four foreign subspecies; Chinese ring-necked (P. c. torquatus), Melanistic mutant (P. c. mut. tenebrosus), XL White (P. c. mut) and Southern green (P. c. versicolor) were used for comparison. On the basis of the results of AMOV A, 94.08% of genetic diversity in Korean ring-necked was allocated among individuals within habitat differences. Estimate of $\Phi$st, which represents the degree of genetic differentiation among habitats was 5.9%. Based on the dendrogram reconstructed by UPGMA, Yangpyung habitat of the eight habitats turned out to be distinct from others habitat. Interestingly, domesticated Korean ring-necked and hybrid mixture showed closer genetic relationship with four foreign subspecies than Korean ring-necked. As a consequence of AMOVA, 96.63% of genetic diversity in four foreign subspecies was allocated among individuals within subspecies. Estimate of $\Phi$st representing the degree of genetic differentiation among subspecies was 3.4%, which was lower than that among habitats of Korean ring-necked. The lower level of genetic difference among four foreign subspecies showed that these subspecies were genetically closer even though they were morphologically classified into four different subspecies. When seven habitats of Korean ring-necked pheasant and four foreign subspecies were divided into Korean and Foreign Pheasant Groups, respectively, more than 17% of genetic diversity was allocated between groups (about 4% among habitats/subspecies within groups). This observation implied that Korean ring-necked pheasant is genetically quite different from four foreign subspecies. On the basis of cluster analysis, three foreign subspecies (Chinese ring-necked pheasant, Melanistic mutant pheasant, and XL White pheasant) formed a distinct group with domesticated Korean ring-necked pheasant and hybrid mixture at 98% confidence interval.

Current Status and Projection of Spent Nuclear Fuel for Geological Disposal System Design (심지층 처분시스템 설계를 위한 사용후핵연료 현황 분석 및 예측)

  • Cho, Dong-Keun;Choi, Jong-Won;Hahn, Pil-Soo
    • Journal of Nuclear Fuel Cycle and Waste Technology(JNFCWT)
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    • v.4 no.1
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    • pp.87-93
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    • 2006
  • Inventories, and characteristics such as dimension, fuel rod array, weight, $^{235}U$ enrichment, and discharge burnup of spent nuclear fuel (SNF) generated from existing and planed nuclear power plants based on National 2nd Basic Plan for Electric Power Demand and Supply were investigated and projected to support geological disposal system design. The historical and projected inventory by the end 2057 is expected to be 20,500 and 14,800MTU for PWR and CANDU spent nuclear fuel, respectively. The quantity of SNF with initial $^{235}U$ enrichment of 4.5 wt.% and below was shown to be 96.5% in total. Average burnup of SNF revealed $\sim36$ GWD/MTU and $\sim40$ GWD/MTU for the period of 1994-1999 and 2000-2003, respectively. It is expected that the average burnup of SNF will be $\sim45$ GWD/MTU at the end of 2000's. From the comprehensive study, it was concluded that the imaginary SNF with $16\times16$ Korean Standard Fuel Assembly, cross section of $21.4cm\times21.4cm$, length of 453cm, mass of 672 kg, initial $^{235}U$ enrichment of 4.5 wt.%, discharge burnup of 55 GWD/MTU could cover almost all SNFs to be produced by 2057.

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Expression of ERCC1, MSH2 and PARP1 in Non-small Cell Lung Cancer and Prognostic Value in Patients Treated with Platinum-based Chemotherapy

  • Xie, Ke-Jie;He, Hong-Er;Sun, Ai-Jing;Liu, Xi-Bo;Sun, Li-Ping;Dong, Xue-Jun
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.6
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    • pp.2591-2596
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    • 2014
  • Purpose: To evaluate the prognostic value of the expression of excision repair cross-complementation group l (ERCC1), MutS protein homolog 2 (MSH2) and poly ADP-ribose polymerase 1 (PARP1) in non-small-cell lung cancer patients receiving platinum-based postoperative adjuvant chemotherapy. Methods: Immunohistochemistry was applied to detect the expression of ERCC1, MSH2 and PARP1 in 111 cases of non-small cell lung cancer paraffin embedded surgical specimens. Through og-rank survival analysis, we evaluated the prognostic value of the ERCC1, MSH2, PARP1 and the related clinicopathological factors. COX regression analysis was used to determine whether ERCC1, MSH2 and PARP1 were independent prognostic factors. Results: In the enrolled 111 non-small cell lung cancer patients, the positive expression rate of ERCC1, MSH2 and RARP1 was 33.3%, 36.9% and 55.9%, respectively. ERCC1 (P<0.001) and PARP1 (P=0.033) were found to be correlated with the survival time while there was no correlation for MSH2 (P=0.298). Patients with both ERCC1 and PARP1 negative cancer had significantly longer survival time than those with ERCC1 (P=0.042) or PARP1 (P=0.027) positive alone. Similalry, the survival time of patients with both ERCC1 and PARP1 positive cancer was shorter than those with ERCC1 (P=0.048) or PARP1 (P=0.01) positive alone. Conclusion: Patients with ERCC1 or PARP1 negative non-small cell lung cancer appear to benefit from platinum-based postoperative adjuvant chemotherapy.

Practical scaling method for underwater hydrodynamic model test of submarine

  • Moonesun, Mohammad;Mikhailovich, Korol Yuri;Tahvildarzade, Davood;Javadi, Mehran
    • Journal of Advanced Marine Engineering and Technology
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    • v.38 no.10
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    • pp.1217-1224
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    • 2014
  • This paper provides a practical scaling method to solve an old problem for scaling and developing the speed and resistance of a model to full-scale submarine in fully submerged underwater test. In every experimental test in towing tank, water tunnel and wind tunnel, in the first step, the speed of a model should be scaled to the full-scale vessel (ship or submarine). In the second step, the obtained resistance of the model should be developed. For submarine, there are two modes of movement: surface and submerged mode. There is no matter in surface mode because, according to Froude's law, the ratio of speed of the model to the full-scale vessel is proportional to the square root of lengths (length of the model on the length of the vessel). This leads to a reasonable speed and is not so much for the model that is applicable in the laboratory. The main problem is in submerged mode (fully submerged) that there isn't surface wave effect and therefore, Froude's law couldn't be used. Reynold's similarity is actually impossible to implement because it leads to very high speeds of the model that is impossible in a laboratory and inside the water. According to Reynold's similarity, the ratio of speed of the model to the full-scale vessel is proportional to the ratio of the full-scale length to the model length that leads to a too high speed. This paper proves that there is no need for exact Reynold's similarity because after a special Reynolds, resistance coefficient remains constant. Therefore, there is not compulsion for high speeds of the model. For proving this finding, three groups of results are presented: two cases are based on CFD method, and one case is based on the model test in towing tank. All these three results are presented for three different shapes that can show; this finding is independent of the shapes and geometries. For CFD method, Flow Vision software has been used.

The Prediction of the Expected Current Selection Coefficient of Single Nucleotide Polymorphism Associated with Holstein Milk Yield, Fat and Protein Contents

  • Lee, Young-Sup;Shin, Donghyun;Lee, Wonseok;Taye, Mengistie;Cho, Kwanghyun;Park, Kyoung-Do;Kim, Heebal
    • Asian-Australasian Journal of Animal Sciences
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    • v.29 no.1
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    • pp.36-42
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    • 2016
  • Milk-related traits (milk yield, fat and protein) have been crucial to selection of Holstein. It is essential to find the current selection trends of Holstein. Despite this, uncovering the current trends of selection have been ignored in previous studies. We suggest a new formula to detect the current selection trends based on single nucleotide polymorphisms (SNP). This suggestion is based on the best linear unbiased prediction (BLUP) and the Fisher's fundamental theorem of natural selection both of which are trait-dependent. Fisher's theorem links the additive genetic variance to the selection coefficient. For Holstein milk production traits, we estimated the additive genetic variance using SNP effect from BLUP and selection coefficients based on genetic variance to search highly selective SNPs. Through these processes, we identified significantly selective SNPs. The number of genes containing highly selective SNPs with p-value <0.01 (nearly top 1% SNPs) in all traits and p-value <0.001 (nearly top 0.1%) in any traits was 14. They are phosphodiesterase 4B (PDE4B), serine/threonine kinase 40 (STK40), collagen, type XI, alpha 1 (COL11A1), ephrin-A1 (EFNA1), netrin 4 (NTN4), neuron specific gene family member 1 (NSG1), estrogen receptor 1 (ESR1), neurexin 3 (NRXN3), spectrin, beta, non-erythrocytic 1 (SPTBN1), ADP-ribosylation factor interacting protein 1 (ARFIP1), mutL homolog 1 (MLH1), transmembrane channel-like 7 (TMC7), carboxypeptidase X, member 2 (CPXM2) and ADAM metallopeptidase domain 12 (ADAM12). These genes may be important for future artificial selection trends. Also, we found that the SNP effect predicted from BLUP was the key factor to determine the expected current selection coefficient of SNP. Under Hardy-Weinberg equilibrium of SNP markers in current generation, the selection coefficient is equivalent to $2^*SNP$ effect.