• Title/Summary/Keyword: Genetic assessment

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Pre- and Post-Treatment Imaging of Primary Central Nervous System Tumors in the Molecular and Genetic Era

  • Sung Soo Ahn;Soonmee Cha
    • Korean Journal of Radiology
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    • 제22권11호
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    • pp.1858-1874
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    • 2021
  • Recent advances in the molecular and genetic characterization of central nervous system (CNS) tumors have ushered in a new era of tumor classification, diagnosis, and prognostic assessment. In this emerging and rapidly evolving molecular genetic era, imaging plays a critical role in the preoperative diagnosis and surgical planning, molecular marker prediction, targeted treatment planning, and post-therapy assessment of CNS tumors. This review provides an overview of the current imaging methods relevant to the molecular genetic classification of CNS tumors. Specifically, we focused on 1) the correlates between imaging features and specific molecular genetic markers and 2) the post-therapy imaging used for therapeutic assessment.

Genetic Diversity Among Waxy Corn Accessions in Korea Revealed by Microsatellite Markers

  • Park, Jun-Seong;Park, Jong-Yeol;Park, Ki-Jin;Lee, Ju-Kyong
    • 한국육종학회지
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    • 제40권3호
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    • pp.250-257
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    • 2008
  • Knowledge of genetic diversity and of the genetic relationships among elite breeding materials has had a significant impact on the improvement of crops. In maize, this information is particularly useful in i) planning crosses for hybrid and line development, ii) in assigning lines to heterotic groups and iii) in plant variety protection. We have used the SSR technique to study the genetic diversity and genetic relationships among 76 Korean waxy corn accessions, representing a diverse collection from throughout Korea. Assessment of genetic diversity among members of this group was conducted using 30 microsatellite markers. Among these 30 microsatellite markers, we identified a total of 127 alleles (with an average of 4.2 and a range of between 2 and 9 alleles per locus). Gene diversity at these 30 microsatellite loci varied from 0.125 to 0.795 with an average of 0.507. The cluster tree generated with the described microsatellite markers recognized two major groups with 36.5% genetic similarity. Group I includes 63 inbred lines, with similarity coefficients of between 0.365 and 0.99. Group II includes 13 inbred lines, with similarity coefficients of between 0.45 and 0.85. The present study indicates that the 30 microsatellite loci chosen for this analysis are effective molecular markers for the assessment of genetic diversity and genetic relationships between Korean waxy corn accessions. Specifically, this study's assessment of genetic diversity and relationships between a set of 76 Korean waxy corn inbred lines will be helpful for such activities as planning crosses for hybrid and line development and association mapping analyses of maize breeding programs in Korea.

유전자변형 미세조류의 생태 유출 모니터링 및 위해성평가 연구 (Monitoring and Environmental Risk Assessment of Genetically Modified Microalgae)

  • 조기철;전한철;황현주;홍지원;이대성;한종원
    • 한국해양바이오학회지
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    • 제11권2호
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    • pp.52-61
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    • 2019
  • Over the past few decades, microalgae-based biotechnology conjugated with innovative CRISPR/Cas9-mediated genetic engineering has been attracted much attention for the cost-effective and eco-friendly value-added compounds production. However, the discharge of reproducible living modified organism (LMO) into environmental condition potentially causes serious problem in aquatic environment, and thus it is essential to assess potential environmental risk for human health. Accordingly, in this study, we monitored discharged genetically modified microalgae (GMM) near the research complex which is located in Daejeon, South Korea. After testing samples obtained from 6 points of near streams, several green-colored microalgal colonies were detected under hygromicin-containing agar plate. By identification of selection marker genes, the GMM was not detected from all the samples. For the lab-scale environmental risk assessment of GMM, acute toxicity test using rotifer Brachionus calcyflorus was performed by feeding GMM. After feeding, there was no significant difference in mortality between WT and transformant Chlamydomonas reinhardtii. According to further analysis of horizontal transfer of green fluorescence protein (GFP)-coding gene after 24 h of incubation in synthetic freshwater, we concluded that the GFP-expressed gene not transferred into predator. However, further risk assessments and construction of standard methods including prolonged toxicity test are required for the accurate ecological risk assessment.

Assessment and Management of Rice, Taro and Tropical Fruit Trees in Contrasting Agro-ecosystems in Vietnam

  • Hue, Nguyen Thi Ngoc;Jarvis, Devra;Sthapit, Bhuwon
    • The Korean Journal of Ecology
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    • 제27권1호
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    • pp.21-26
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    • 2004
  • Understanding farmer household and community management of crop diversity is necessary in order to effectively strengthen the local plant genetic resources management system in Vietnam, Assessment and management for distribution of farmer's cultivars of rice, taro and tropical tree species were conducted in four different agro-ecological zones in Vietnam using participatory approaches, focus surveys, diversity fairs, agro-morphological field trials, isozyme analysis to understand why Vietnamese farmers grow diverse types of these crop cultivars, when and where these crops cultivars are grown and how farmers maintain and use them. Results showed significant differences in the extent, distribution and use pattern crop cultivars diversity in contrasting environments and between community farmer households. Seed system is an important role in the access and use of diversity in eco-geographical regions.

EFFECT OF BREEDING LENGTH ON GENETIC IMPROVEMENT IN JAPANESE HOLSTEIN POPULATION

  • Terawaki, Y.;Shimizu, H.;Fukui, Y.
    • Asian-Australasian Journal of Animal Sciences
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    • 제9권4호
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    • pp.363-370
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    • 1996
  • The effect of breeding length of sire on genetic progress was examined in the Holstein dairy cattle population in Japan. Genetic progress was extimated by gene flow method. Breeding length of sires directly influences the replacement rates of sires and the selection intensity of sires because there are a fixed number of progeny tested young bulls per year. As breeding length of sires increased, rate of gene flow decreased and average proportions of genes deriving from selected animals had lower asymptotic values. When breeding length was short, average proportions of genes required a longer period to converge to asymptotic values. Changes of Rcow-sire's(sire to breed recorded cows) and Ncow-sire's(sire to breed non recorded cows) breeding length influenced not only transmission of their genes but also that of genes derived from all other selected animals. Irrespective of whether the discount rate was assumed to be 0 or 6%, longer term (${\geq}$ 20 years) expected total genetic improvement was maximized by a sire breeding length of five years. For shorter term assessment(10 years), genetic improvement was maximized by a sire breeding length of three years. There was a linear increase in the contribution of the sire to bulls pathway to the total genetic improvement, with increase in the term of assessment.

유전의료시대의 "맞춤의학" (Challenge of Personalized Medicine in the Genomic Era)

  • 김현주
    • Journal of Genetic Medicine
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    • 제5권2호
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    • pp.89-93
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    • 2008
  • "Personalized medicine," the goal of which is to provide better clinical care by applying patient's own genomic information to their health care is a global challenge for the $21^{st}$ century "genomic era." This is especially true in Korea, where provisions for clinical genetic services are inadequate for the existing demand, let alone future demands. Genomics-based knowledge and tools make it possible to approach each patient as a unique biological individual, which has led to a paradigm-shift in medical practice, giving it more of a predictive focus as compared with current treatment oriented approach. With recent advancements in genomics, many genetic tests, such as susceptibility genetic tests, have been developed for both rare single gene diseases and more common multifactorial diseases. Indeed, genetic tests for presymtomatic individuals and genetic tests for drug response have become widely available, and personalized medicine will face the challenge of assisting patients who use such tests to make appropriate and wise use of genetic risk assessment. A major challenge of genomic medicine lies in understanding and communicating disease risk in order to facilitate and support patients and their families in making informed decisions. Establishment of a health care system with provisions for genetic counseling as an integral part of health care service, in addition to genomic literacy of health care providers, is vital to meet this growing challenge. Realization of the promise of personalized medicine in the era of genomics for improvement of health care is dependent on further development of next generation sequencing technology and affordable sequencing test costs. Also necessary will be policy development concerning the ethical, legal and social issues of genomic medicine and an educated and ready medical community with clinical practice guidelines for genetic counseling and genetic testing.

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영향계수법과 유전알고리즘을 이용한 QUAL2K 모형의 매개변수 최적화 (Parameter Optimization of QUAL2K Using Influence Coefficient Algorithm and Genetic Algorithm)

  • 조재현;이창훈
    • 환경영향평가
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    • 제18권2호
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    • pp.99-109
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    • 2009
  • In general, manual calibration is commonly used for the stream water quality modelling. Because the manual calibration depends upon the subjectivity and experience of the researcher, it has a problem with the objectivity of the modelling. Thus, the interest about the automatic calibration by the optimization technique is deeply increased. In this study, Influence coefficient algorithm and Genetic algorithm are introduced to develop an automatic calibration model for the QUAL2K that are the latest version of the QUAL2E. Genetic algorithm, used in this study, is very simple and easy to understand but also applicable to any complicated mathematical problem, and it can find out the global optimum solution effectively. The developed automatic calibration model is applied to the Gangneung Namdaecheon. The calibration results about the 11 water quality variables show the good correspondence between the calculated and observed water quality values.

Risk Assessment and Pharmacogenetics in Molecular and Genomic Epidemiology

  • Park, Sue-K.;Choi, Ji-Yeob
    • Journal of Preventive Medicine and Public Health
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    • 제42권6호
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    • pp.371-376
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    • 2009
  • In this article, we reviewed the literature on risk assessment (RA) models with and without molecular genomic markers and the current utility of the markers in the pharmacogenetic field. Epidemiological risk assessment is applied using statistical models and equations established from current scientific knowledge of risk and disease. Several papers have reported that traditional RA tools have significant limitations in decision-making in management strategies for individuals as predictions of diseases and disease progression are inaccurate. Recently, the model added information on the genetic susceptibility factors that are expected to be most responsible for differences in individual risk. On the continuum of health care, from diagnosis to treatment, pharmacogenetics has been developed based on the accumulated knowledge of human genomic variation involving drug distribution and metabolism and the target of action, which has the potential to facilitate personalized medicine that can avoid therapeutic failure and serious side effects. There are many challenges for the applicability of genomic information in a clinical setting. Current uses of genetic markers for managing drug therapy and issues in the development of a valid biomarker in pharmacogenetics are discussed.

Clinical Application of Chromosomal Microarray for Germline Disorders

  • Chang Ahn Seol
    • Journal of Interdisciplinary Genomics
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    • 제5권2호
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    • pp.24-28
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    • 2023
  • Chromosomal microarray (CMA) is primarily recommended for detecting clinically significant copy number variants (CNVs) in the genetic diagnosis of developmental delay, intellectual disability, autism, and congenital malformations. Prenatal CMA is recommended when a fetus has major congenital malformations. The main principles of CMA can be divided into array comparative genomic hybridization and single-nucleotide polymorphism arrays. In the current CMA platforms, these two principles are combined, and detection of genetic abnormalities including CNVs and absence of heterozygosity is facilitated. In this review, I described practical assessment of CMA testing regarding to laboratory management of CMA, interpretation of CNVs, and special considerations for comprehensive genetic counseling.