• Title/Summary/Keyword: 변이분석

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Detection of p53 Mutation in Colorectal Cancer Using PCR-SSCP and DHPLC (대장암에서 PCR-SSCP와 DHPLC를 이용한 p53 돌연변이의 검출)

  • Sang-Bum Park;Sang-Man Han;Youn-Hyoung Nam;Won-Cheoul Jang
    • Journal of the Korean Chemical Society
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    • v.47 no.5
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    • pp.460-465
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    • 2003
  • Structural alteration of p53 and overexpression of p53 protein are the most common genetic abnormalities in various kinds of human cancer. Mutations in the p53 tumor-suppressor gene are usually associated with an advanced development of colorectal cancer characterized by the transition from the adenoma to carcinoma stage. Mutations in exons 5-8 of the p53 gene were analyzed by the polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) and denaturing high performance liquid chromatography(DHPLC). SSCP analysis detected 7 mutations(C13109>T) in 50 colorectal cancer samples(14%) at exon 5, and DHPLC analysis detected 7 mutations (C13109>T) and 2 mutation(C13202>A, C13204>G) in 50 colorectal cancer samples(18%) at exon 5. All of 9 mutations were proved by sequencing analysis. We conclude that DHPLC is a highly sensitive and specific method for p53 gene mutations.

CNVDAT: A Copy Number Variation Detection and Analysis Tool for Next-generation Sequencing Data (CNVDAT : 차세대 시퀀싱 데이터를 위한 유전체 단위 반복 변이 검출 및 분석 도구)

  • Kang, Inho;Kong, Jinhwa;Shin, JaeMoon;Lee, UnJoo;Yoon, Jeehee
    • Journal of KIISE:Databases
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    • v.41 no.4
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    • pp.249-255
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    • 2014
  • Copy number variations(CNVs) are a recently recognized class of human structural variations and are associated with a variety of human diseases, including cancer. To find important cancer genes, researchers identify novel CNVs in patients with a particular cancer and analyze large amounts of genomic and clinical data. We present a tool called CNVDAT which is able to detect CNVs from NGS data and systematically analyze the genomic and clinical data associated with variations. CNVDAT consists of two modules, CNV Detection Engine and Sequence Analyser. CNV Detection Engine extracts CNVs by using the multi-resolution system of scale-space filtering, enabling the detection of the types and the exact locations of CNVs of all sizes even when the coverage level of read data is low. Sequence Analyser is a user-friendly program to view and compare variation regions between tumor and matched normal samples. It also provides a complete analysis function of refGene and OMIM data and makes it possible to discover CNV-gene-phenotype relationships. CNVDAT source code is freely available from http://dblab.hallym.ac.kr/CNVDAT/.

Statistical Study on Compressive Strength of Field-Cast Concrete (현장타설 콘크리트 압축강도의 확률적 분석)

  • 김상효;배규웅
    • Magazine of the Korea Concrete Institute
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    • v.1 no.2
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    • pp.93-100
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    • 1989
  • 철근콘크리트부재의 강도는 여러 가지 요인으로 인하여 변이를 보이고 있다. 주요 요인들은 콘크리트나 철근의 강도 및 역학적 특성의 변이, 시공오차등이다. 이들중 콘크리트의 강도는 상대적으로 높은 불확실성을 가지며, 다양한 요인(배합, 운반, 타설, 양생등)에 의해 변화정도가 영향을 받는다. 본 연구에서는 국내 철근콘크리트 구조물이 가지는 신뢰도의 수준을 분석하기 위한 기초자료 조사로서, 현장에서 타설되는 콘크리트를 설계강도별로 직접채취하여 습윤양생과 현장조건양생을 통하여 콘크리트의 28일 압축강도의 확률적 특성을 분석하였다. 분석된 결과를 이용하여 현장타설 부재내에서의 콘크리트의 압축강도를 추정하였다.

Identification of Polymorphisms in CAST Gene Associated with Economic Traits in Hanwoo (Bos taurus coreanae) (한우(Bos taurus coreanae)의 CAST 유전자 내 변이지역 탐색 및 경제형질과의 연관성 분석)

  • Oh, Jae-Don;Lee, Jin-A;Lee, Kun-Woo;Park, Kyung-Do;Cho, Byung-Wook;Jeon, Gwang-Joo;Lee, Hak-Kyo;Kong, Hong-Sik
    • Journal of Life Science
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    • v.20 no.10
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    • pp.1498-1504
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    • 2010
  • A number of studies have shown that the calpain system is important in normal skeletal muscle growth. An increased rate of skeletal muscle growth can result from a decreased rate of muscle protein degradation, and this is associated with a decrease in activity of the calpain system, due principally to a large increase in calpastatin (CAST) activity. The CAST gene, mapped to BTA 7, is considered a candidate gene for beef tenderness and muscle growth. The present study used comparative sequencing of five novel polymorphisms located within exon 20 and 22 of the bovine CAST gene in Hanwoo: exon20- 109737G/A, 109749T/C, 109823T/C, exon22- 116151G/A, intron- 109926G/A. The association of the CAST SNPs with economic traits was studied. The 109926G/A showed a significant effect only on the longissimus muscle area (LMA, p<0.05) in Hanwoo. 109926G/A with the genotype GG had a significantly higher effect on LMA (75.35) than the genotype AA (69.6, p<0.05). Also, the 116151G/A showed a significant effect only on weight at 18 months (W18, p<0.05). 116151G/A with the genotype GG had a significantly higher effect on W18 (428.54) than the genotype AA (408.87, p<0.05).

Spatial Variations of Nutrient Concentrations in Pennsylvania Watersheds (펜실바니아 유역 수질의 공간적 변이에 관한 연구)

  • Chang, Heejun
    • Journal of the Korean Geographical Society
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    • v.37 no.5
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    • pp.536-550
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    • 2002
  • This paper investigated the spatial variations of nitrogen (N) and phosphorus (P) concentrations for 38 watersheds in Pennsylvania using 7 years of hydroclimatic and water quality data. Watersheds with higher percentage of urban and agricultural land uses exhibited larger variations of nutrient concentrations than forested watersheds. N and P concentrations were strongly associated with agricultural and urban land uses, respectively. The principle component analysis identified three components - land use and topography related, hydroclimate related factors, and size. Results of partial redundancy analysis showed the joint effect of climate, land cover, and topographic variables for explaining 28.1% of the variance of nitrogen concentrations and a pure effect of land cover for explaining 41.8% of total variance of P concentrations. The geographical pattern of statewide nutrient concentrations demonstrated a strong spatial gradient; low concentration in northwestern PA and high concentrations in southeastern PA. This pattern is associated with combined effects of hydroclimate, land use, topography, and water quality at the regional scale.

A Case Study of the Characteristics of Mathematically Gifted Elementary Students' Statistical Reasoning : Focus on the Recognition of Variability (초등수학영재들의 통계적 사고 특성 사례 분석: 변이성에 대한 인식을 중심으로)

  • Lee, Hyung-Sook;Lee, Kyeong-Hwa;Kim, Ji-Won
    • Journal of Educational Research in Mathematics
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    • v.20 no.3
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    • pp.339-356
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    • 2010
  • It is important for children to develop statistical reasoning as they think through data. In particular, it is imperative to provide children instructional situations in which they are encouraged to consider variability in data because the ability to reason about variability is fundamental to the development of statistical reasoning. Many researchers argue that even highperforming mathematics students show low levels of statistical reasoning; interventions attending to pedagogical concerns about child ren's statistical reasoning are, thus, necessary. The purpose of this study was to investigate 15 gifted elementary students' various ways of understanding important statistical concepts, with particular attention given to 3 students' reasoning about data that emerged as they engaged in the process of generating and graphing data. Analysis revealed that in recognizing variability in a context involving data, mathematically gifted students did not show any difference from previous results with general students. The authors suggest that our current statistics education may not help elementary students understand variability in their development of statistical reasoning.

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Pressure fluctuation and characteristics of hydraulic jump downstream of a transversal structure for various Froude numbers (다양한 흐름조건에 따른 하천횡단구조물 하부의 도수특성 및 압력변동성 검토)

  • Yoo, Hyung Ju;Jeong, Seok il;Lee, Seung Oh
    • Proceedings of the Korea Water Resources Association Conference
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    • 2018.05a
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    • pp.63-63
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    • 2018
  • 최근 이상기후로 인한 국지성 호우의 발생빈도 및 강우강도의 증가는 하천횡단구조물의 안정성에 문제가 되고 있다. 하천 횡단구조물(보, 물받이공 등)의 파괴는 국부 세굴(bed scour), 파이핑(piping), 구조물 본체의 불안정성 등의 원인으로 발생되고 있으며, 이 중에서 구조물 본체의 불안정성은 도수(hydraulic jump)로 인한 압력변이도 주요 원인이 될 수 있다 (Bower and Toso, 1988; Kazemi, F. et al., 2016). 그러나, 현재 직접적인 파괴 원인인 세굴 등에 대한 연구에 비해 압력변이로 인한 구조물의 파괴원인을 분석하는 연구는 미비한 실정이다. 본 연구에서는 다양한 흐름조건을 발생시켜, 하천횡단구조물 주변의 도수특성 및 도수로 인한 압력변이에 대하여 수리실험 및 수치모의를 통하여 검토하고자 한다. 수리실험에 사용하는 수로는 길이 10 m, 폭 0.3 m, 높이 0.4 m이며 상류로부터 2.5 m 떨어진 곳에 보(weir)를 설치하였다. 실험조건은 다양한 흐름조건에 따른 도수 발생을 검토하고자 상하류 수위를 조절을 통해 Froude 수의 범위를 1 < Fr < 10로 설정하였다. 압력변이는 전압형 압력계(Model : UNIK 5000, 압력 측정 변위 : -2 ~ 5 kPa)를 사용하였으며, 보(weir) 하류단에서 2.5 cm 간격으로 천공하여 측정하였다. 또한 3차원 모형인 FLOW-3D 모형을 이용하여 실험수로를 재현하였으며, 도수 발생 위치, 도수 길이, 도수 발생 시 압력변이에 대하여 실험결과와 수치모의 결과를 비교하여 수치모형을 검증하였다. 최종적으로 Froude 수에 따른 도수특성(도수 발생위치, 도수 길이 등) 및 최대 압력변이를 무차원화 하여 나타내었다. 본 연구는 도수 발생 시 압력변이로 인한 구조물 파괴분석에 대한 기초가 되는 기본적인 연구이나, 향후에는 물받이공 길이, 두께 등 하천횡단 구조물 설계인자 도출에 선행연구로 발전할 수 있다고 판단된다.

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A Study on Small Area Variations of Hospital Services Utilization in Heart Diseases (심질환의 지역간 입원의료이용 변이에 관한 연구)

  • Kwon, Young-Chae;Chang, Dong-Min
    • Journal of Digital Convergence
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    • v.10 no.3
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    • pp.207-218
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    • 2012
  • The purpose of this study is to provide preliminary data for political measures to minimize the variations by understanding the regional variations and trends of hospital services for heart diseases, and analyzing the factors that could occur any variations. The various data collected from nation-wide inpatient services conducted separately by small region show that there have been some differences in income level, supply of medical resources, standardized rate of hospitalization by sex and age, health level in the residence, and the length of stay per head. Then it indicated that the number of special medical equipment per 10,000 people and the rate of vigorous physical activity have the highest influence over the regional variations in using hospital services. On the other hand, the number of sick-beds per 10,000 people, the number of special medical equipment, and the present smoking rate have significant degree of influence on the length of stay per head. Thus, it is imperative for the authorities to set aside health promoting policies and to distribute the medical resources equitably throughout the country and to enhance the accessibility of local residents to the health care services.

Analysis on geographic variations and variational factors in expenditures for hypertension (고혈압 의료비 지역 간 변이 및 변이 요인 분석)

  • Choi, Soon-Ho;Yong, Wang-Sik;Kim, Yoo-Mi
    • Journal of Digital Convergence
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    • v.13 no.10
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    • pp.425-436
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    • 2015
  • This study is to investigate how the expenditures for hypertension is affected by socioeconomic, health care resources, and health behavior factors with a special emphasis on geographic variations and to provide the data about regional management for hypertension. To analyze, we combined a unique data set including key indicators from Medical Service Usage Statistics 2012 by Region by National Health Insurance Corporation, Annual Community Health Survey 2012 by Korea Centers for Disease Control and Prevention and other government organizations at the 247 small administrative districts. We found that the average expenditures of hypertension in 249 small districts is 62,000 won and coefficient of variation is 30.0. Major factors of differences in hypertension expenditure is population density, marital status, household income, number of hospital per 100 thousand, medical expenses outside the jurisdiction, drinking rate, moderate and over-intensity physical activity, and hypertension diagnosis rate. The results of decision tree was that there were significant differences between regions in hypertension diagnosis rate, household income, marital status, number of hospital per 100 thousand, obesity rate, drinking rate. This study concluded that determinants of geographic variations in hypertension spending are not only health resources and socioepidemic characteristics but health behaviors.

Searching Narrow Values of Cache Memory for Yield-Aware Cache Design under Process Variation (공정 변이 조건 하의 수율 인식 캐시 설계를 위한 캐시 메모리 내로우 밸류 검색)

  • Jang, Hyung-Beom;Chung, Sung-Woo;Yoon, Sung-Roh
    • Proceedings of the Korean Information Science Society Conference
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    • 2008.06b
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    • pp.456-459
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    • 2008
  • 공정 기술의 발전에 따라 공정 변이 (process variation)에 따른 수율 (yield) 감소 문제가 대두하고 있으며, 공정 변이 대응 설계 기법 (process variation tolerant design technique)은 하드웨어 제작 시 반드시 고려되어야 할 중요한 요소가 되었다. 캐시 메모리 (cache memory)의 경우에도 공정 변이로 인한 수율 감소 문제에 대처할 수 있는 설계 방법의 개발이 절실하다. 본 논문에서는 캐시에 저장되는 데이터의 특성 분석을 통해 공정 변이에 대응할 수 있는 새로운 캐시 구조 설계에 대한 연구를 소개한다.

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