• Title/Summary/Keyword: 표현형 변이

Search Result 222, Processing Time 0.027 seconds

A Classifier for the association study between SNPs and quantitative traits (SNP와 양적 표현형의 연관성 분석을 위한 분류기)

  • Uhmn, Saangyong;Lee, Kwang Mo
    • Journal of the Korea Society of Computer and Information
    • /
    • v.17 no.11
    • /
    • pp.141-148
    • /
    • 2012
  • The advance of technologies for human genome makes it possible that the analysis of association between genetic variants and diseases and the application of the results to predict risk or susceptibility to them. Many of those studies carried out in case-control study. For quantitative traits, statistical analysis methods are applied to find single nucleotide polymorphisms (SNP) relevant to the diseases and consider them one by one. In this study, we presented methods to select informative single nucleotide polymorphisms and predict risk for quantitative traits and compared their performance. We adopted two SNP selection methods: one considering single SNP only and the other of all possible pairs of SNPs.

한국인 윌슨병의 임상상과 유전자형

  • Lee, Beom-Hui;Kim, Gu-Hwan;Kim, Ju-Hyeon;Jeong, Chang-U;Lee, Jin;Choe, Jin-Ho;Yu, Han-Uk
    • Journal of The Korean Society of Inherited Metabolic disease
    • /
    • v.11 no.1
    • /
    • pp.84-87
    • /
    • 2011
  • 윌슨병은 ATP7B의 결함에 의해 발생하는 질환으로 구리 대사 이상질환이다. 구리대사의 이상은 체내에 구리의 축적을 유도하며, 이에 따르는 산화스트레스, 염증반응, 세포소멸사의 환경 조성, 마이토콘드리아의 손상 등이 동반되는 것으로 알려져 있다. 윌슨병은 간질환으로 발현하거나, 신경학적 증상으로 발현하는 환자도 있으며, 일부 환자는 무증상적 시기에 발현하기도 한다. 우리나라의 윌슨병 237 가계를 대상으로 한 연구에서 발현 표현형에 따른 임상상의 차이를 발견할 수 있었다. 또한, 이러한 표현형의 차이는 ATP7B의 유전형과도 일부 상관관계를 보이고 있었는데, 돌연변이의 종류나 위치에 따른 발현 임상상의 차이를 확인할 수 있었다. 그러나, 이외의 부위나 한국인에서 흔한 돌연변이에 따른 표현형은 상관관계를 밝힐 수 없었다. 향후 표현형의 다양성에 영향을 주는 요소를 찾아내고 이들이 임상경과에 미치는 영향을 밝히기 위한 노력이 필요하다.

  • PDF

Chromosome Redundancy and Tree Phenotype Variation in Autotetraploid Trifoliate Orange (동질 사배체 탱자에서 염색체 배가와 수체 표현형의 변이)

  • Oh, Eun Ui;Chae, Chi-Won;Kim, Sat-Byul;Lu, Jian Liang;Yun, Su-Hyun;Koh, Sang-Wook;Song, Kwan Jeong
    • Horticultural Science & Technology
    • /
    • v.32 no.3
    • /
    • pp.366-374
    • /
    • 2014
  • The study was conducted to investigate the possibility that epigenetic DNA methylation causes tree phenotypic variation in autotetraploids through evaluating the phenotypic variation and DNA methylation in autotetraploids occurred spontaneously from diploid trifoliate orange. Chromosome analysis confirmed that fourteen trifoliate orange trees of selected by flow cytometry were tetraploids (2n = 4X = 36) without any aneuploids. Chromomycin A3 staining determined that these trees were all autotetraploid with doubled chromosome set. Tree phenotypes, such as tree height and width, branching number, length, and angle, internode length, and leaf characteristics, varied in the autotetraploids. Chlorophyll indices were diverse in the autotetraploids, but photosynthetic rates were not significantly different. In addition, a wide range of variation was observed in stomatal density and guard cell length. Analysis of global cytosine DNA methylation showed that there was a variation of the methylation level in autotetraploids. More than half of 14 autotetraploids had at least 2 times higher methylation level than diploid trifoliate orange. The results indicate that tree phenotypic variation in autotetraploids might be related to global DNA methylation for reducing gene redundancy.

QTL for Quality Properties in the Milyang23 $\times$ Gyhobyeo Recombinant Inbred Lines by Different Locations (벼 밀양 23호 $\times$ 기호벼 재조합 자식계통의 지역에 따른 품질 특성 관련 QTL 분석)

  • Kwak Tae-Soon;Yeo Jun-Hwan;Eun Moo-Young;Cha Young-Soon
    • KOREAN JOURNAL OF CROP SCIENCE
    • /
    • v.49 no.6
    • /
    • pp.539-545
    • /
    • 2004
  • The purpose of this study was to locate the quantitative trait loci (QTL) associated with quality properties in the recombinant inbred lines derived from the 'Milyang 23' and 'Gihobyeo' cross. Four quality-related traits; protein content, amylose content, fat acid content and sensory value were measured. Eight QTLs for protein content were detected on chromosomes 1 (two loci), 3, 6, 7 and 8 (three loci), each accounting for $6.0\%\~15.2\%$ of the phenotypic variation. Three QTLs for amylose content were detected on chromosomes 6 and 7 (two loci), each explaining from $7.3\%\;to\;24.4\%$ of the phenotypic variation. Six QTLs for fat acid content were detected on chromosomes 2 (two loci), 3, 6 (two loci) and 7, each explaining form $5.5\%\;to\;14.0\%$ of the phenotypic variation. Six QTLs for sensory value were detected on chromosomes 2, 6, 7(two loci) and 8 (two loci), each accounting for $5.5\%\~10.3\%$ of the phenotypic variation.

The Correlation of Verbal Expression of Stool, Bristol Stool Form Scale and Colon Transit Time for Children with Gastrointestinal Symptoms (소화기 증상이 있는 환아의 대변표현형, Bristol 대변형태척도 및 대장통과시간검사와의 상관관계)

  • Lee, Yong Ju;Chung, Ki Sup
    • Pediatric Gastroenterology, Hepatology & Nutrition
    • /
    • v.8 no.2
    • /
    • pp.130-136
    • /
    • 2005
  • Purpose: The aim of this study was to evaluate the correlation among descriptions regarding one's stool, Bristol stool form scale and colon transit time (CTT) in children with gastrointestinal symptoms, along with the clinical significance of Bristol stool form scale. Methods: 489 patients treated in the pediatric department of Severance hospital with gastrointestinal symptoms between May 2002 to May 2004 were included. We analyzed their age, sex, verbal descriptions of stool, Bristol stool form types, and CTT measured by Metcalf's method. Results: 116 children were under 5 years of age, 202 children between 5.1~10, and 171 children 10 years of age or older. Their mean age was $8.2{\pm}3.9years$. Stools were described as loose in 65 children (13.3%), normal in 221 (45.2%), hard in 188 (38.4%), and mixed (loose+hard) in 15 (3.1%). According to Bristol stool form scale, 57 children(11.7%) were classified as type 1, 66 (13.5%) as type 2, 203 (41.5%) as type 3, 109 (22.3%) as type 4, 36 (7.4%) as type 5, 18 (3.7%) as type 6, and 1 (0.2%) as type 7. Their mean CTT was checked $35.9{\pm}19.5hours$. Though no significant relationship was observed between age and CTT (p=0.4), a significant relationship was noted among patient's stool description, Bristol stool form scale and CTT (p<0.001). However, concordance between stool description and Bristol stool form was relatively low in the loose stool group (29%) and normal stool group (37%) while high in the hard stool group (87%). Conclusion: Bristol stool form scale could be used in the estimation of CTT in clinical practice.

  • PDF

Genetic Diversity and Phenetic Relationships of Genus Oxalis in Korea Using Random Amplified Polymorphic DNA (RAPD) Markers (RAPD마크를 이용한 한국 내 괭이밥속 식물의 유전적 다양성과 표현형 관계)

  • Huh, Man Kyu;Choi, Byoung-Ki
    • Journal of Life Science
    • /
    • v.24 no.7
    • /
    • pp.707-712
    • /
    • 2014
  • We evaluated the phenetic relationships within six taxa of genus Oxalis L. in Korea with random amplified polymorphic DNA (RAPD) markers. Ten primers produced 125 bands for six taxa, and the mean number of bands per primer was 12.5. Across the six taxa, 121 (96.8%) bands were polymorphic, and only four were monomorphic. The mean number of RAPD phenotypes across the six taxa varied from 3.6 (O. stricta and O. corymbosa) to 4.8 (O. corniculata for. rubrifolia). In a simple measure of intraspecies variability according to the percentage of polymorphic bands, O. stricta and O. corymbosa exhibited the lowest variation (28.8%), and O. corniculata for. rubrifolia showed the highest (38.4%). A mean of 32.7% of the loci was polymorphic within taxa. The total interspecies genetic diversity ($H_T$) and intraspecies genetic diversity ($H_S$) was 0.362 and 0.122, respectively. On a per-locus basis, the proportion of total genetic variation due to differences among species ($G_{ST}$) was 0.663. This indicates that about 66.3% of the total variation was among species. The node of O. stricta and O. corniculata for. rubrifolia was strongly supported, with a high bootstrap value in the NJ tree and sistered with O. corniculata. According to RAPD analysis, the number of chromosomes was not congruent with a phenetic relationship.

Isogeometric Shape Design Optimization of Structures Subjected to Design-dependent Loads (설계 의존형 하중 조건을 갖는 구조물의 아이소-지오메트릭 형상 최적설계)

  • Yoon, Min-Ho;Ha, Seung-Hyun;Cho, Seon-Ho
    • Proceedings of the Computational Structural Engineering Institute Conference
    • /
    • 2009.04a
    • /
    • pp.412-415
    • /
    • 2009
  • 본 논문에서는 등기하 해석법을 이용하여 설계 의존형 하중조건을 갖는 구조물에 대한 형상 최적설계 를 수행하였다. 유한요소 기반 형상 최적설계는 설계영역 매개화에 어려움이 있으나 등기하 해석법은 NURBS 기저 함수와 조정점을 이용함으로써 기하학적 표현이 용이하다는 장점을 가지고 있다. 기하학적으로 정확한 모델은 응답 및 설계민감도 해석에 사용되며, 설계구배 기반의 최적화에 있어서 중요한 역할을 한다. 하중조건이 설계영역의 변화에 따라 변하는 최적설계 문제에서 경계에서 설계민감도가 부정확한 경우, 설계공간에서 최적설계가 균일한 수렴성을 갖기 어렵다. 즉 유한요소법을 이용한 형상 최적설계에서 설계 의존형 하중조건을 갖는 문제를 푸는 경우, 최적설계를 진행할 때 변하는 경계의 부정확성 때문에 정확한 설계민감도를 얻기가 어려운 점이 있다. 본 논문에서는, 엄밀한 기하형상을 표현하는 등기하 설계민감도를 활용한 형상 최적설계 기법이 설계 의존형 하중조건을 갖는 문제에서 좋은 결과를 제시함을 확인하였다.

  • PDF

FORM(형(型)): 로봇소문만복래

  • Gyeong, Byeong-Pyo
    • Cartoon and Animation Studies
    • /
    • s.5
    • /
    • pp.437-439
    • /
    • 2001
  • 변모하는 사대는 예술의 가치성에 대한 부분과 더불어 변해간다. 예술의 가치성, 예술의 척도, 예술 방법도 시대의 변모와 함께 변해간다. 순수회화를 지나 첨단 테크놀로지 예술이 용성화된 현실에서 과거의 따뜻함이 들어 있는 예술을 돌아보게 된다. 차가운 기계의 느낌을 전달하기에 급급한 현실에서 해학을 통한 아름다움을 표현하고자 한다.

  • PDF

Sigma S Involved in Bacterial Survival of Ralstonia pseudosolanacearum (Ralstonia pseudosolanacearum 생존에 관여하는 Sigma S 역할)

  • Hye Kyung Choi;Eun Jeong Jo;Jee Eun Heo;Hyun Gi Kong;Seon-Woo Lee
    • Research in Plant Disease
    • /
    • v.30 no.2
    • /
    • pp.148-156
    • /
    • 2024
  • Ralstonia pseudosolanacearum, a plant pathogenic bacterium that can survive for a long time in soil and water, causes lethal wilt in the Solanaceae family. Sigma S is a part of the RNA polymerase complex, which regulates gene expression during bacterial stress response or stationary phase. In this study, we investigated the role of sigma S in R. pseudosolanacearum under stress conditions using a rpoS-defective mutant strain of R. pseudosolanacearum and its wild-type strain. The phenotypes of rpoS-defective mutant were complemented by introducing the original rpoS gene. There were no differences observed in bacterial growth rate and exopolysaccharide production between the wild-type strain and the rpoS mutant. However, the wild-type strain responded more sensitively to nutrient deficiency compared to the mutant strain. Under the nutrient deficiency, the rpoS mutant maintained a high bacterial viability for a longer period, while the viability of the wild-type strain declined rapidly. Furthermore, a significant difference in pH was observed between the culture supernatant of the wild-type strain and the mutant strain. The pH of the culture supernatant for the wild-type strain decreased rapidly during bacterial growth, leading to medium acidification. The rapid decline in the wild-type strain's viability may be associated with medium acidification and bacterial sensitivity to acidity during transition to the stationary phase. Interestingly, the rpoS mutant strain cannot utilize acetic acid, D-alanine, D-trehalose, and L-histidine. These results suggest that sigma S of R. pseudosolanacearum regulates the production or utilization of organic acids and controls cell death during stationary phase under nutrient deficiency.

Morphological Variation of Marine Enteromorpha linza (L.) J. Agardh (Ulvales, Chlorophyceae) (해산 녹조 잎파래 (Enteromorpha linza (L.) J. Agardh)의 형태변이)

  • 김광용
    • Journal of Plant Biology
    • /
    • v.35 no.1
    • /
    • pp.61-67
    • /
    • 1992
  • Principal component analysis of the morphological characters was applied to ordinate and examine morphological variation of Enteromorpha linza due to differences in environmental factors. As results, the samples from exposed populations to wave action were characterized by having longer stipe and maximum length, and narrower maximum width than samples from sheltered populations. The results of multiple comparision in each character among populations provided further support for the hypothesized existence of exposed, moderate, and sheltered morphotypes.otypes.

  • PDF