• Title/Summary/Keyword: Genetic assessment

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Clinical Applications of Chromosomal Microarray Analysis (염색체 Microarray 검사의 임상적 적용)

  • Seo, Eul-Ju
    • Journal of Genetic Medicine
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    • v.7 no.2
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    • pp.111-118
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    • 2010
  • Chromosomal microarray analysis (CMA) enables the genome-wide detection of submicroscopic chromosomal imbalances with greater precision and accuracy. In most other countries, CMA is now a commonly used clinical diagnostic test, replacing conventional cytogenetics or targeted detection such as FISH or PCR-based methods. Recently, some consensus statements have proposed utilization of CMA as a first-line test in patients with multiple congenital anomalies not specific to a well-delineated genetic syndrome, developmental delay/intellectual disability, or autism spectrum disorders. CMA can be used as an adjunct to conventional cytogenetics to identify chromosomal abnormalities observed in G-banding analysis in constitutional or acquired cases, leading to a more accurate and comprehensive assessment of chromosomal aberrations. Although CMA has distinct advantages, there are several limitations, including its inability to detect balanced chromosomal rearrangements and low-level mosaicism, its interpretation of copy number variants of uncertain clinical significance, and significantly higher costs. For these reasons, CMA is not currently a replacement for conventional cytogenetics in prenatal diagnosis. In clinical applications of CMA, knowledge and experience based on genetics and cytogenetics are required for data analysis and interpretation, and appropriate follow-up with genetic counseling is recommended.

Development and characterization of nine microsatellite loci from the Korean hare (Lepus coreanus) and genetic diversity in South Korea

  • Kim, Sang-In;An, Jung-Hwa;Choi, Sung-Kyoung;Lee, Yun-Sun;Park, Han-Chan;Kimura, Junpei;Kim, Kyung-Seok;Min, Mi-Sook;Lee, Hang
    • Animal cells and systems
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    • v.16 no.3
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    • pp.230-236
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    • 2012
  • The Korean hare, Lepus coreanus, is an important mammal in ecosystem food chains, and is distributed across the entire Korean peninsula and northeastern China. Polymorphic microsatellite loci were developed using the biotinenrichment technique for use in population genetics studies. Five trinucleotide and four dinucleotide microsatellite loci were selected and tested on 22 Korean hare specimens collected from Gangwon Province and Gyeongsangbuk Province in South Korea. The number of alleles across the two sampling regions ranged from three to nine with a mean of 6.1. Mean observed and expected heterozygosities and polymorphic information content were 0.540, 0.627 and 0.579, respectively. Only one locus, Lc06, showed departure from Hardy-Weinberg equilibrium after applying the Bonferroni correction. Four microsatellites, Lc01, Lc03, Lc12, and Lc19, satisfied the criteria to serve as a core set of markers recommended for population genetics studies. These new microsatellite markers will be widely applicable to future genetic studies for management and conservation of the Korean hare and related species, including assessment of the genetic diversity and population structure of L. coreanus.

Discovery of novel haplotypes from wild populations of Kappaphycus (Gigartinales, Rhodophyta) in the Philippines

  • Roleda, Michael Y.;Aguinaldo, Zae-Zae A.;Crisostomo, Bea A.;Hinaloc, Lourie Ann R.;Projimo, Vicenta Z.;Dumilag, Richard V.;Lluisma, Arturo O.
    • ALGAE
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    • v.36 no.1
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    • pp.1-12
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    • 2021
  • As the global demand for the carrageenophyte Kappaphycus is steadily increasing, its overall productivity, carrageenan quality, and disease resistance are gradually declining. In the face of this dilemma, wild Kappaphycus populations are viewed as sources of new cultivars that could potentially enhance production; therefore, assessment of their diversity is crucial. This study highlights the morphological and genetic diversity of wild Kappaphycus species obtained from two sites in the Philippines. Nucleotide alignments of available 5' region of the mitochondrial cytochrome c oxidase subunit I (COI-5P) and cox2-3 spacer sequences of Kappaphycus confirmed the presence of K. alvarezii in Guiuan, Eastern Samar and K. striatus in Bolinao, Pangasinan. Based on the concatenated sequences of the COI-5P and the cox2-3 spacer, nine novel haplotypes were observed along with other published haplotypes. However, there was no relationship between haplotype and morphology. These newly recognized haplotypes indicate a reservoir of unutilized wild genotypes in the Philippines, which could be taken advantage of in developing new cultivars with superior traits. DNA barcodes generated from this study effectively expand the existing databank of Kappaphycus sequences and can provide insights in elucidating the genetic diversity of Kappaphycus species in the country.

Development of EST-SSRs and Assessment of Genetic Diversity in Germplasm of the Finger Millet, Eleusine coracana (L.) Gaertn.

  • Wang, Xiaohan;Lee, Myung Chul;Choi, Yu-Mi;Kim, Seong-Hoon;Han, Seahee;Desta, Kebede Taye;Yoon, Hye-myeong;Lee, Yoonjung;Oh, Miae;Yi, Jung Yoon;Shin, Myoung-Jae;Kim, Kyung-Min
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.66 no.4
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    • pp.443-451
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    • 2021
  • Finger millet (Eleusine coracana) is widely cultivated in tropical regions worldwide owing to its high nutritional value. Finger millet is more tolerant against biotic and abiotic stresses such as pests, drought, and salt than other millet crops; therefore, it was proposed as a candidate crop to adapt to climate change in Korea. In 2019, we used expressed sequence tag simple sequence repeat (EST-SSR) markers to evaluate the genetic diversity and structure of 102 finger millet accessions from two geographical regions (Africa and South Asia) to identify appropriate accessions and enhance crop diversity in Korea. In total, 40 primers produced 116 alleles, ranging in size from 135 to 457 bp, with a mean polymorphism information content (PIC) of 0.18225. Polymorphism was detected among the 40 primers, and 13 primers were found to have PIC values > 0.3. Principal coordinate and phylogenetic analyses, based on the combined data of both markers, grouped the finger millet accessions according to their respective collection areas.Therefore, the 102 accessions were classified into two groups, one from Asia and the other from Africa. We have conducted an in-depth study on the finger millet landrace pedigree. By sorting out and using the molecular characteristics of each pedigree, it will be useful for the management and accession identification of the plant resource. The novel SSR markers developed in this study will aid in future genetic analyses of E. coracana.

Calibration of crop growth model CERES-MAIZE with yield trial data (지역적응 시험 자료를 활용한 옥수수 작물모형 CERES-MAIZE의 품종모수 추정시의 문제점)

  • Kim, Junhwan;Sang, Wangyu;Shin, Pyeong;Cho, Hyeounsuk;Seo, Myungchul
    • Korean Journal of Agricultural and Forest Meteorology
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    • v.20 no.4
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    • pp.277-283
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    • 2018
  • The crop growth model has been widely used for climate change impact assessment. Crop growth model require genetic coefficients for simulating growth and yield. In order to determine the genetic coefficients, regional growth monitoring data or yield trial data of crops has been used to calibrate crop growth model. The aim of this study is to verify that yield trial data of corn is appropriate to calibrate genetic coefficients of CERES-MAIZE. Field experiment sites were Suwon, Jinju, Daegu and Changwon. The distance from the weather station to the experimental field were from 1.3km to 27km. Genetic coefficients calibrated by yield trial data showed good performance in silking day. The genetic coefficients associated with silking are determined only by temperature. In CERES-MAIZE model, precipitation or irrigation does not have a significant effect on phenology related genetic coefficients. Although the effective distance of the temperature could vary depending on the terrain, reliable genetic coefficients were obtained in this study even when a weather observation site was within a maximum of 27 km. Therefore, it is possible to estimate the genetic coefficients by yield trial data in study area. However, the yield-related genetic coefficients did not show good results. These results were caused by simulating the water stress without accurate information on irrigation or rainfall. The yield trial reports have not had accurate information on irrigation timing and volume. In order to obtain significant precipitation data, the distance between experimental field and weather station should be closer to that of the temperature measurement. However, the experimental fields in this study was not close enough to the weather station. Therefore, When determining the genetic coefficients of regional corn yield trial data, it may be appropriate to calibrate only genetic coefficients related to phenology.

Application on Multi-biomarker Assessment in Environmental Health Status Monitoring of Coastal System (해역 건강도 평가를 위한 다매체 바이오마커 적용)

  • Jung, Jee-Hyun;Ryu, Tae-Kwon;Lee, Taek-Kyun
    • Ocean and Polar Research
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    • v.30 no.1
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    • pp.109-117
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    • 2008
  • Application of biomarkers for assessing marine environmental health risk is a relatively new field. According to the National Research Council and the World Health Organization, biomarkers can be divided into three classes: biomarkers of exposure, biomarkers of effect, and biomarkers of susceptibility. In order to assess exposure to or effect of the environmental pollutants on marine ecosystem, the following set of biomarkers can be examined: detoxification, oxidative stress, biotransformation products, stress responses, apoptosis, physiological metabolisms, neuromuscular responses, reproductions, steroid hormones, antioxidants, genetic modifications. Since early 1990s, several biomarker research groups have developed health indices of marine organisms to be used for assessing the state of the marine environment. Biomarker indices can be used to interpret data obtained from monitoring biological effects. In this review, we will summarize Health assessment Index, Biomarker Index, Bioeffect Assessment Index and Generalized Linear Model. Measurements of biomarker responses and development of biomarker index in marine organisms from contaminated sites offer great a lot of information, which can be used in environmental monitoring programs, designed for various aspects of ecosystem risk assessment.

Assessment of Endophytic Fungal Diversity and Beyond

  • Kim, Soonok
    • 한국균학회소식:학술대회논문집
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    • 2015.05a
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    • pp.20-20
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    • 2015
  • Endophytic fungi are microorganisms inhabiting living plant tissues without causing apparent harm to the host. They are drawing increasing attention due to their ability to produce various bioactive compounds as well as their effects on host growth and resistance to biotic and abiotic stresses. As a first step to assess biodiversity of plant associated fungi in Korea and the following evaluation on diverse biological activities, we are collecting endophytic fungi from plant in wild followed by systematic long-term storage in liquid nitrogen. Molecular identification using ITS sequences was also incorporated for pure culture by hyphal tip isolation. As of April 2015, about 1,400 fungal strains had been isolated from about 170 plant taxa. Fungal isolates belonging to Pleosporales, Diaporthales, Glomerellales, Hypocreales, and Xylariales were the most abundant. These collections are being used for several complementary researches, including screening of isolates with novel bioactive compounds or conferring drought stress resistance, phylogenetic and genomic study. Genome sequencing was performed for 3 isolates, one Xylaria sp. strain JS573 producing griseofulvin, an antifungal compound, and two Fusarium spp. strains JS626 and JS1030, which are assumed to be new species found in Korea. More detailed analysis on these genomes will be presented. These collections and genome informations will serve as invaluable resources for identifying novel bioactive materials in addition to expand our knowledge on fungal biodiversity.

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Safety Assessment of Genetically Modified Foods and Food Additives in Korea

  • Kim, Chang-Min
    • Toxicological Research
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    • v.17
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    • pp.185-188
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    • 2001
  • Genetically modified foods and food additives are derived from organisms that have been inserted foreign genetic materials by recombinant DNA techniques to improve the quality or any other pur-poses. The problems such as toxicity, allergenicity and antibiotics resistance in the safety of genetically modified foods are usually concerned. In Korea, the safety of foods is ensured by the Food Sanitation Act. Although there is no specific provision regarding the genetically modified foods in it, any foods that might cause negative effect(s) on public health or human life are prohibited to sell in the market. In order to systematically evaluate safety of genetically modified foods, the Korea Food and Drug Administration (KFDA) promulgated "Guidelines regarding review of safety assessment data for genetically modified foods and food additives (KFDA Notification 1999-46)". The objectives of these guidelines are to ensure safety of genetically modified foods and food additives. In order to evaluate the safety of genetically modified foods. KFDA operates a special expert committee composed by experts from government, universities, research institutes. and consumer's unions. Recently. manufacturers and consumers are interested in the issues on safety and labeling of genetically modified foods, because of increment of imported genetically modified crops and processed foods. Since government and consumers unions have different viewpoints, their positions regarding the issue are different each other. Therefore, the regulation of labeling on genetically modified foods is prepared and should be enforced at July 2000 in Korea. in Korea.

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A Study on Distribution Characteristics of Corylopsis coreana Using SDM (종분포모형을 이용한 히어리 서식지의 분포 특성 연구)

  • Kwon, Hyuksoo;Ryu, Ji-Eun;Seo, Changwan;Kim, Jiyeon;Lim, Dong-Ok;Suh, Min-Hwan
    • Journal of Environmental Impact Assessment
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    • v.21 no.5
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    • pp.735-743
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    • 2012
  • Since the CBD(Conservation on Biological Diversity)'s 10th Conference of the Parties adopted the protocol on access to genetic resources and benefit sharing in Nagoya 2010, the importance of endangered species studies such as habitat distribution, protection and management have been more emerged. Corylopsis coreana, an endangered species in Korea, was isolated nationally and has been damaged by anthropogenic factors. In this paper, we identified the factors affecting C. coreana habitat at the national scale and regional scale using National Survey of Natural Environment and predicted the distribution of C. coreana. Annual precipitation, precipitation of wettest quarter, temperature seasonality and Digital Elevation Model(DEM) were derived as important factors at the national scale, and precipitation of wettest quarter, DEM and solar radiation on spring were identified as important factors at regional scale. Colylopsis distribution was affected by an effect of climate significantly at the national scale, and by additionally the microclimate and topography at regional scale. These findings will be used as the basis on habitat conservation and restoration plan and climate change.

Current status of development and event-dependent genetic analysis of genetically modified crops in Korea (우리나라의 유전변명작물 개발 현황 및 사상-종속 유전 분석)

  • Jeong, Soon-Chun
    • Journal of Plant Biotechnology
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    • v.35 no.1
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    • pp.23-29
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    • 2008
  • Development of genetically modified crops using modern biotechnology is regarded as a promising way to combat with ever-increasing human population. Korea attempted to develop its own genetically modified crops essentially for the past 20 years, however no example of commercialization has been announced. Here, I briefly summarized current status of development and risk assessment of genetically modified crops in Korea. Then, I attempted to identify a death valley in the process of commercialization. Based on experience of risk assessment of 15 different genetically modified organisms, I suggested that lack of the screening of elite events may serve as a death valley.