• Title/Summary/Keyword: genetic advance

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Positional cloning in mice: a new mutant mouse, Sims (Sexual Immaturity, Megaencephaly, and Seizure)

  • Koo, S.K.;Jin, S.J.;Lee, K.S.;Oh, B.S.
    • Proceedings of the Zoological Society Korea Conference
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    • 1999.10b
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    • pp.31-31
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    • 1999
  • Characterization of mutant mice has been utilized as an animal model for the study of human inherited diseases. In addition to the pathogenesis stduy using the mutant mice, the mice have been used for the identification of the genes causing the phenotypes. Functional cloning and positional cloning are two approaches, depending on the phenotypes of the mutant mice. Though it takes a long time positional cloning has been well used to identify the gene of which function can not be presumed from the mouse phenotype. Recently by the advance of the molecular tools and the human genome project close to 10,000 genetic markers are developed to make the procedure faster. We obtained a new mutant mouse, sims, spontaneously arose and the affected mouse has a mild tremor and seizure was observed. Homozygote in either sex is sterile since uterus growth in female and seminal vesicle in male are not induced for the growth in puberty, implying the abnormal hormonal regulation during puberty. Supporting this, there is no detectable testosterone in the serum of the mutant male and the brain of the mutant is 30% heavier than littermate. To identify the location of the mutated gene, intraspecies cross to CAST/Ei was carried out and the 37 affected mice was analyzed for the linkage. The gene was mapped on chromosome 18, 20 cM from the centromere. More than 500 F2 progenies have been analyzed for the linkage and the locus becomes narrow within 3cM between Egrl and Fgf gene.f gene.

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A Current Advance of Gene Targeting and Gene Trapping Methods As Tools of Making Transgenic Mice (형질전환생쥐의 제조 수단으로서 유전자 적중법 및 함정법의 개발 현황)

  • Kang, Hae-Mook
    • Development and Reproduction
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    • v.14 no.4
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    • pp.215-223
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    • 2010
  • The construction of transgenic mouse using embryonic stem (ES) cells has been crucial in the functional studies of gene on mouse genome. Gene knockout mice have been powerful for elucidating the function of genes as well as a research model for human diseases. Gene targeting and gene trapping mathods have been the representative technologies for making the knockout mice by using ES cells. Since the gene targeting and the gene trapping methods were independently developed about 20 years ago, it's efficiency and productivity has been improved with a advance of molecular biology. Conventional gene targeting method has been changes to high throughput conditional gene targeting. The combination of the advantage of gene targeting and gene tapping elements allows to extend a spectrum of gene trapping and to improve the efficiency of gene targeting. These advance should be able to produce the mutant with various phenotype to target a certain gene, and in postgenome era they have served as crucial research tools in understanding the functional study of whole genome in mouse.

Population genetic analysis of special purpose dogs: linkage disequilibrium and effective population size

  • Lee, Doo Ho;Lee, Soo Hyun;Kang, Ji Min;Ju, Ho Young;Lee, Cheol Koo;Choi, Bong Hwan;Lee, Seung Hwan
    • Korean Journal of Agricultural Science
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    • v.44 no.4
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    • pp.549-557
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    • 2017
  • As exchanges between countries become more active, new threats such as drugs, illegal imports of food and medicines, and terrorism are present all over the world. From this, increased border security that protects people's safety is becoming a new issue. The activities of special purpose dogs that detect these threats in advance are becoming very important. One of the obstacles in securing superior individuals is musculoskeletal disorders which interfere with the work of special purpose dogs. In order to search for genes associated with these genetic disorders, we conducted genomic analysis using linkage disequilibrium information and investigated genetic characteristics to know heterozygosity and inbreeding status in the population. In this study, two breeds (Malinois, Shepherd) of army dogs and three breeds (Malinois, Shepherd, Retriever) from public databases were used for comparison. The 170K SNP marker panel was used for this study. In the principal component analysis, it was confirmed that clusters were formed for each breed. The number of effective populations differed for each cultivar, but this was due to the difference in numbers of individuals for each breed used for the analysis. The results of heterozygosity decay analysis showed that heterozygous alleles decreased with each generation. In the army dog group, if the population number is maintained properly, the frequency of allele genotype will not decrease significantly.

Integrated Genetic Algorithm with Direct Search for Optimum Design of RC Frames (직접탐색을 이용한 유전자 알고리즘에 의한 RC 프레임의 최적설계)

  • Kwak, Hyo-Gyoung;Kim, Ji-Eun
    • Journal of the Computational Structural Engineering Institute of Korea
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    • v.21 no.1
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    • pp.21-34
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    • 2008
  • An improved optimum design method for reinforced concrete frames using integrated genetic algorithm(GA) with direct search method is presented. First, various sets of initially assumed sections are generated using GA, and then, for each resultant design member force condition optimum solutions are selected by regression analysis and direct search within pre-determined design section database. In advance, global optimum solutions are selected from accumulated results through several generations. Proposed algorithm makes up for the weak point in standard genetic algorithm(GA), that is, low efficiency in convergence causing the deterioration of quality of final solutions and shows fast convergence together with improved results. Moreover, for the purpose of elevating economic efficiency, optimum design based on the nonlinear structural analysis is performed and therefore makes all members resist against given loading condition with the nearest resisting capacity. The investigation for the effectiveness of the introduced design procedure is conducted through correlation study for example structures.

Researches Trend of Korea Institute of Oriental Medicine in Sasang Constitution Field - from 2007 to 2010 (한국한의학연구원의 사상체질 연구동향 - 2007년부터 2010년까지의 논문을 중심으로 -)

  • Lee, Young-Seop;Kim, Sang-Hyuk;Lee, Si-Woo
    • Korean Journal of Oriental Medicine
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    • v.18 no.1
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    • pp.59-74
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    • 2012
  • Objective : The aim of this study is to investigate current status of Sasang constitutional medicine researches and to provide source in setting a development strategy and making a policy on the Sasang constitutional medicine. Method : This study analyzed trends in research as represented in the 142 articles of Korea Institute of Oriental Medicine in the field of Sasang constitution medicine from 2007 to 2010. Result : The main themes of studies were Sasang constitution clinical study (68, 47%) and developing instruments for measuring diagnosis (48, 33%), especially pulse diagnosis (25, 17%). Genetic researches and trends studies on Sasang constitutional medicine were respectively 17 (12%) and 8 (5%). As a result, Korea Institute of Oriental Medicine established Sasang clinical information bank, and discovered clinical character of Sasang constitution to develope various diagnosis tools include constitution survey form and pulse diagnosis instrument. Genetic researches also discover constitution related genes such as FTO and MC4R, and explore association between heredity and Sasang constitution. Conclusion : The above mentioned achievements of Korea Institute of Oriental Medicine were limited to diagnosis process, unquestionably studies for reproducibility and authenticity of constitution diagnosis were important mission of Sasang constitutional medicine. However, to develop the advance of Sasang constitutional medicine, not only constitution diagnosis but also constitutional treatment studies should be conducted.

Mapping Biodiversity throughoptimized selection of input variables in decision tree models (의사결정나무 변수 선정 방법을 적용한 대축적 생물다양성 지도 구축)

  • Kim, Do Yeon;Heo, Joon;Kim, Chang Jae
    • Journal of Environmental Impact Assessment
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    • v.20 no.5
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    • pp.663-673
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    • 2011
  • In the face of accelerating biodiversity loss and its significance in our coexistence with nature, biodiversity is becoming more crucial in sustainable development perspective. To estimate biodiversity in the future which provides valuable information for decision making system especially in the national level, a quantitative approach must be studied forehand as a baseline of the present status. In this study, we developed a large-scale map of Plant Species Richness (PSR, typical indicator of biodiversity) for Young-dong and Pyung-chang provinces. Due to the accessibility of appropriate data and advance of modelling techniques, reduction of variables without deteriorating the predictive power is considered by applying Genetic algorithm. In addition, a number of Correctly Classified Instances (CCI) with 10-fold cross validation which indicates the predictive power, was carried out for evaluation. This study, as a fundamental baseline, will be beneficial in future land work as well as ecosystem restoration business or other relevant decision making agenda.

Beyond gene expression level: How are Bayesian methods doing a great job in quantification of isoform diversity and allelic imbalance?

  • Oh, Sunghee;Kim, Chul Soo
    • Journal of the Korean Data and Information Science Society
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    • v.27 no.1
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    • pp.225-243
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    • 2016
  • Thanks to recent advance of next generation sequencing techniques, RNA-seq enabled to have an unprecedented opportunity to identify transcript variants with isoform diversity and allelic imbalance (Anders et al., 2012) by different transcriptional rates. To date, it is well known that those features might be associated with the aberrant patterns of disease complexity such as tissue (Anders and Huber, 2010; Anders et al., 2012; Nariai et al., 2014) specific differential expression at isoform levels or tissue specific allelic imbalance in mal-functionality of disease processes, etc. Nevertheless, the knowledge of post-transcriptional modification and AI in transcriptomic and genomic areas has been little known in the traditional platforms due to the limitation of technology and insufficient resolution. We here stress the potential of isoform variability and allelic specific expression that are relevant to the abnormality of disease mechanisms in transcriptional genetic regulatory networks. In addition, we systematically review how robust Bayesian approaches in RNA-seq have been developed and utilized in this regard in the field.

Automatic Gait Generation for Quadruped Robot Using GA with an Enhancement of Performance (GA를 이용한 4족 보행로봇의 걸음새 자동 생성 및 성능향상)

  • Seo, Ki-Sung;Choi, Jun-Seok;Cho, Young-Wan
    • Journal of the Korean Institute of Intelligent Systems
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    • v.18 no.4
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    • pp.555-561
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    • 2008
  • This Paper introduces new approach to develop fast and reliable gaits for quadruped robot using GA(genetic algorithm). Planning gaits for legged robots is a challenging task that requires optimizing parameters in a highly irregular and multidimensional space. Recent approaches have problems to select proper parameters which are not known in advance and optimize more than ten to twenty parameters simultaneously. In our approach, the effects of major gait parameters are analysed and used to guide the search more efficiently. The experiments of Sony AIBO ERS-7 in Webots environment indicate that our approach is able to produce much improved results in fast velocity and reliability.

Recent Advance in Very Early Onset Inflammatory Bowel Disease

  • Shim, Jung Ok
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.22 no.1
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    • pp.41-49
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    • 2019
  • Recent studies on pediatric inflammatory bowel disease (IBD) have revealed that early-onset IBD has distinct phenotypic differences compared with adult-onset IBD. In particular, very early-onset IBD (VEO-IBD) differs in many aspects, including the disease type, location of the lesions, disease behavior, and genetically attributable risks. Several genetic defects that disturb intestinal epithelial barrier function or affect immune function have been noted in these patients from the young age groups. In incidence of pediatric IBD in Korea has been increasing since the early 2000s. Neonatal or infantile-onset IBD develops in less than 1% of pediatric patients. Children with "neonatal IBD" or "infantile-onset IBD" have higher rates of affected first-degree relatives, severe disease course, and a high rate of resistance to immunosuppressive treatment. The suspicion of a monogenic cause of VEO-IBD was first confirmed by the discovery of mutations in the genes encoding the interleukin 10 (IL-10) receptors that cause impaired IL-10 signaling. Patients with such mutations typically presented with perianal fistulae, shows a poor response to medical management, and require early surgical interventions in the first year of life. To date, 60 monogenic defects have been identified in children with IBD-like phenotypes. The majority of monogenic defects presents before 6 years of age, and many present before 1 year of age. Next generation sequencing could become an important diagnostic tool in children with suspected genetic defects especially in children with VEO-IBD with severe disease phenotypes. VEO-IBD is a phenotypically and genetically distinct disease entity from adult-onset or older pediatric IBD.

Morphological Characteristics, and Coefficient of Variation, Heritability and Genetic Advance of Major Cultivars of Spray Chrysanthemum (주요 스프레이 국화 품종의 형태적 특성과 변이계수, 유전율 및 유전자 전이율)

  • Shim, Sung-Im;Lim, Ki-Byung;Kim, Chang-Kil;Chung, Mi-Young;Kim, Kyung-Min;Chung, Jae-Dong
    • Horticultural Science & Technology
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    • v.34 no.2
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    • pp.269-281
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    • 2016
  • The statistical analyses of coefficient of variation, heritability, and genetic advance were carried out to identify differences in morphological characteristics, such as the stem and inflorescence length, of 10 major commercial cultivars of spray chrysanthemum (Chrysanthemum morifolium). For morphological characteristics, stem lengths ranged from 46.4 cm to 54.9 cm, the maximum diameter of stem was 5.6 to 8.5 mm, the hardness of the stem was 0.17 to $0.70kg{\cdot}m^{-2}$, the fresh weight of stem was 7.5 to 17.5 g, the dry weight of the stem was 1.6 to 3.3 g, the ratio of dry weight/fresh weight of stem was 15.9% to 23.1%. Also, the number of leaves on the stem was 8.4 to 12.2, the stem leaf area was 17.8 to $37.8m^2$, the fresh weight stem leaves was 5.3 to 18.6 g, the dry weight was 0.5 to 1.4 g and the ratio of dry weight /fresh weight of stem leaves was 7.6% to 11.5%. The inflorescence length ranged from 10.1 to 18.6 cm, the fresh weight of inflorescence was 7.3 to 26.7 g, the dry weight of inflorescence was 1.2 to 2.8 g, the ratio of dry weight /fresh weight of inflorescence was 10.4% to 17.1%. For flower, the diameter of the flower center was 8.2 to 13.3 mm, the petal width was 5.7 to 14.0 mm, the petal length was 12.9 to 33.1 mm, and the petal thickness was 157.8 to $354.4{\mu}m$. The mean values of each character in each cultivar were very different, and DMRT and LSD values based on morphological characteristics among 10 cultivars were highly significant. For variability and genetic parameters, the lowest CV (coefficient of variation), PCV (phenotypic coefficient of variation), and GCV (genotypic coefficient of variation) were 4.79% to 5.15% in stem length, and the highest variations were 62.97% to 65.21% in leaf area. ECV (error or environmental coefficient of variation) was the lowest for leaf area (1.71%) and it was the highest for leaf dry weight (19.30%). Heritability also significantly differed among the characteristics, ranging from 68.69% to 99.67%, the lowest value was shown in ratio of dry weight /fresh weight of stem and the highest value was for leaf area of stem. The value for genetic advance was the lowest in hardness of stem at 0.30 and the highest in leaf thickness at 156.65. The lowest genetic advance as percentage of mean of stem hardness was 9.17%, while the highest percentage of stem length was 134.27%. Thus the characters which had the highest values indicated above show the influence of additive gene action and may provide useful resources for selection programs for agronomic improvement.