• Title/Summary/Keyword: Molecular Characteristics

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The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome (한국인 묘성증후군 20명 환자에서의 5p 결실 양상 분석)

  • Park, Sang-Jin;Kim, Sook-Ryung;Baek, Kum-Nyeo;Yoon, Joon-No;Jeong, Eun-Jeong;Kown, Ji-Eun;Kim, Hyon-J.
    • Journal of Genetic Medicine
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    • v.4 no.2
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    • pp.133-141
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    • 2007
  • Purpose : Cri-du-Chat syndrome (CdCs) is a rare but clinically recongnizable condition with an estimated incidence of 1:50,000 live births. The clinical characteristics of the syndrome include severe psychomotor and mental retardation, microcephaly, hypertelorism, hypotonia, and slow growth. Also the size of the chromosome 5p deletion ranges were known from the region 5p13 to the terminal region. In this study, we report the spectrum of 5p deletion in Korean 20 pts. with CdCs and genotype-phenotype associations in CdCs. Methods : In order to delineate genotype-phenotype correlation, molecular cytogenetic studies including GTG banding and clinical characterization were performed on Korean 20 pts with CdCs including parents. CGH array and Fluorescence in situ hybridization (FISH) analysis were used to confirm a terminal deletion karyotype and map more precisely the location of the deletion breakpoint. Results : Molecular analysis of the spectrum of 5p deletion revealed 9 pts (45%) with a del (5)(p14), 7 pts. (35%) a del (5)(p13), 3 pts. (15%) a del (5)(p15.1) and 1 pt. (5%) a del (5)(p15.2) in 20 pts with CdCs. 4(20%)pts were identified to have additional chromosome abnormalites of deficiency and duplication involving chromosomes of 6, 8, 18, & 22. Parental study identified 3 familial case (2 paternal and 1 maternal origin) showing parents being a balanced translocation carrier. And the comparison study of the deletion break points among these 20 pts. with their phenotype has showed the varying clinical pheno-types in the CdCs critical region. Conclusion : The characterization of 5p deletion including parental study may help to delineate the genotypephenotype correlation in CdCs. Also these molecular cytogenetic analyses will be able to offer better information for accurate genetic diagnosis in CdCs and further make possible useful genetic counseling in pts. and family.

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Occurrence and Molecular Phylogenetic Characteristics of Benthic Sand-dwelling Dinoflagellates in the Intertidal Flat of Dongho, West Coast of Korea (서해안 동호 사질 조간대에 서식하는 저서성 와편모류의 출현양상 및 분자계통학적 특성)

  • KIM, SUNJU;YOON, JIHAE;PARK, MYUNG GIL
    • The Sea:JOURNAL OF THE KOREAN SOCIETY OF OCEANOGRAPHY
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    • v.20 no.3
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    • pp.141-150
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    • 2015
  • Dinoflagellates are ubiquitous and important primary producers in the oceans. They have diverse trophic modes, i.e., phototrophic, heterotrophic, and mixotrophic modes and thereby, play important ecological role in marine microbial food-web. While many studies have been focused on planktonic dinoflagellates in pelagic ecosystems, benthic, sand-dwelling dinoflagellates that inhabit in intertidal zone have been very poorly documented worldwide. We investigated biodiversity, occurrence, and molecular phylogeny of benthic, sand-dwelling dinoflagellates from the intertidal flat of Dongho, west coast of Korea during low-tide, monthly from November 2012 to February 2014. About 27 species of 13 genera in orders Gonyaulacales, Gymnodiniales, Peridiniales, Prorocentrales have been identified, of which members in the genus Amphidinium constituted a major part of the sand-dwelling dinoflagellates in this area. A total of 34 isolates from 16 species of the sand-dwelling dinoflagellates were isolated from Dongho, Mohang, Gamami, and Songho in the west coast and Hyupjae in Jeju of Korea, their 28S rDNA sequences were successfully amplified, and applied for molecular phylogenetic analyses. In the 28S rDNA phylogeny, Amphidinium species diverged across three major clusters within the order Gymnodiniales and formed polyphyletic group. Based on the unambiguously aligned partial 28S rDNA sequences including variable D2 region, the genotypes of Amphidinium mootonorum Korean strains greatly differed from that of Canadian strain with 19.2% of pairwise nucleotide difference, suggesting that further ultrastructural studies may provide additional characters to clearly separate these genotypes. Two potential toxic species, Amphidinium carterae and A. operculatum appeared occasionally during this study. Quantitative assessment and toxicity of those species should be addressed in the future.

Investigation of fish community structure and species diversity in two river estuary ecosystems, the Taehwa River and Changwon Stream, based on conventional survey and eDNA metabarcoding (어구조사 및 환경 DNA 메타바코딩을 이용한 태화강, 창원천 하구 생태계의 어류 군집 구조 및 종 다양성 평가)

  • Hee-kyu Choi;Yu Rim Kim;Soon Young Hwang;Yeounsu Chu;Pyoungbeom Kim;Hyuk Je Lee
    • Korean Journal of Environmental Biology
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    • v.41 no.4
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    • pp.637-656
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    • 2023
  • River estuaries are dynamic and productive ecosystems with high regional biodiversity. Environmental DNA (eDNA) has become a useful approach to assessing biodiversity in aquatic ecosystems. This study was conducted to investigate fish community characteristics and species diversity in two river estuary ecosystems, the Taehwa River and Changwon Stream. We further compared conventional and eDNA metabarcoding analyses of the fish communities. The conventional survey was performed in May, July, and October 2022, while the eDNA analysis was conducted only in May. We observed various fish species with different life histories, including carp, goby, and marine fish. We also found that migratory fish, such as dace Tribolodon hakonensis, sweetfish Plecoglossus altivelis, and eel Auguilla japonica, occurred in the Taehwa River, suggesting high river connectivity. Marine fish species were predominant in the Changwon Stream, as this river is located close to the sea. The diversity indices showed that the Taehwa River generally had higher species richness, evenness, and diversity values than the Changwon Stream. A total of 9-19 species were detected in the conventional survey for the three sites, whereas 11-18 species were found from eDNA analysis. The findings indicate that the sensitivity of eDNA was similar to or higher than that of the conventional method. Our study findings suggest the efficiency and efficacy of eDNA-based fish community monitoring, although with some shortcomings in applying the genetic marker to Korean fish, including no clear-cut distinction for Korean endemic species and/or genetically closely related species groups.

Vacuum Ultraviolet Emission Characteristics on High Xenon Mole Fraction at Low Pressure in AC-PDP (AC-PDP에서 저압의 높은 Xe함량 방전기체의 진공자외선 발광특성)

  • Son, C.G.;Kim, S.H.;Jung, S.H.;Han, Y.G.;Uhm, H.S.;Choi, E. H.
    • Journal of the Korean Vacuum Society
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    • v.18 no.2
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    • pp.92-96
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    • 2009
  • Nowadays, many research groups try to achieve the high Xe mole fraction discharge gas for high efficiency in AC-PDPs. However, the high Xe mole fraction discharge gas causes the high discharge voltage, which is a serious problem in AC-PDP's for high efficiency. In this study, the discharge gas with high Xe mole fraction and the low pressures has been applied and it's discharge voltage and vacuum ultraviolet emission characteristics have also been measured. It is shown that the discharge voltage is 354V and 389V at Ne+Xe (15%) with 400 Torr and Ne+Xe (30%) with 200 Torr, respectively. Their vacuum ultraviolet emission characteristics have similar characteristics to each other, in which their wavelengths are ranged from 140 nm to 200 nm. It is found in this experiment that the luminous efficiency for the discharge gas of Ne+Xe (30%) with 200 Torr is drastically increased by about 30%.

Association study analysis of phospholipase C zeta gene polymorphism forsperm motility and kinematic characteristics in liquid semen of Boar (Phospholipase C zeta 유전자의 유전적다형성과 돼지 액상정액의 운동학적 특성과의 연관성 분석)

  • Jeong, Yong-dae;Jeong, Jin-Young;Sa, Soo-Jin;Kim, Ki-Hyun;Cho, Eun-Seok;Yu, Dong-Jo;Park, Sungk-won;Jang, Hyun-Jun;Woo, Jae-Seok;Choi, Jung-Woo
    • Journal of Embryo Transfer
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    • v.31 no.3
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    • pp.293-297
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    • 2016
  • For evaluating the boar semen quality, sperm motility is an important parameter because the movement of sperm indicates active metabolism, membrane integrity and fertilizing capacity. Phospholipase C zeta (PLCz) is important enzyme in spermatogenesis, but the effect has not been confirmed in pigs yet. Therefore, this study was aimed to analyze their association with sperm motility and kinematic characteristics. DNA samples from 124 Duroc pigs with records of sperm motility and kinematic characteristics [total motile spermatozoa (MOT), curvilinear velocity (VCL), straight-line velocity (VSL), the ratio between VSL and VCL (LIN), amplitude of lateral head displacement (ALH)] were subjected. A SNP in non-coding region of PLCz g.158 A > C was associated with MOT (p < 0.05), VCL (p < 0.01), LIN (p < 0.01) and ALH (p < 0.05) in Duroc population. Therefore, we suggest that the intron region of the porcine PLCz gene may be used as a molecular marker for Duroc boar semen quality, although its functional effect was not defined yet. Whether the association is due to the candidate gene or not require further verification. Thus, it will be of interest to continue association studies in the regions surrounding those genes.

Characteristic evaluation of collected strains of Agaricus spp. based on ITS rDNA sequence (ITS 계통분석을 이용한 주름버섯류 수집균주의 특성평가)

  • Oh, Youn-Lee;Yoo, Young-Bok;Shin, Pyung-Gyun;Kong, Won-Sik;Choi, In-Geol
    • Journal of Mushroom
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    • v.12 no.4
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    • pp.244-250
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    • 2014
  • Phylogenic relationships and morphological characteristics were classified and investigated among the 233 collected strains of Agaricus spp. The 38 strains were differently identified as different characteristic group using analysis of ITS regions in rDNA. A. bitorquis was showed close relationship in groupA whereas A. campestris was in groupC as different characteristic group among with A. bisporus. There was no phylogentic difference with strains collected by country and different pileus colored Agaricus bisporus. Also the strains were cultivated twice to investigate morphological characteristics of fruiting bodies. The characteristics and yield of collected strains were compared with molecular varieties and seasons by the cultivation. In this result, A. campestirs showed good yield and quality in terms of hardness off-white mushroom was more harder than other number of A. bisporus. Also earliness and color of pileus was influenced by external environment all conditions.

Taxonomic studies of the tribe Potentilleae (Rosaceae) in Korea (한국산 양지꽃족(장미과)의 분류학적 연구)

  • HEO, Kyeong-In;LEE, Sangryong;KIM, Yongsung;PARK, Jongsun;LEE, Sangtae
    • Korean Journal of Plant Taxonomy
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    • v.49 no.1
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    • pp.28-69
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    • 2019
  • We conducted taxonomical investigations based on morphological characteristics, fruit morphology, and literature research on the tribe Potentilleae (Rosaceae) in Korea covering seven genera and 24 species. The style position on the ovary and the shape of style were useful characteristics for the classification of subtribal and generic levels in the tribe Potentilleae. The subtribe Fragariinae is characterized by subbasal or lateral style on the ovary and anthers with one theca. The subtribe Potentillinae has a subterminal style on the ovary, except for Argentina, which presents a subterminal and lateral style and anthers with two thecae. These results support the recent taxonomic recognition that i) the tribe Potentilleae consists of two subtribes, and ii) genera such as Dasiphora, Comarum, and Sibbaldianthe sometimes included in Potentilla s.l. are treated as independent genus. In the subtribe Potentillinae, Argentina, which has been treated as Potentilla, is supported as a distinct genus according to the characteristics of the subterminal and lateral style position and the ventral stipular auricles. In Fragaria, F. nipponica subsp. chejuensis, which has generally small leaves and a limited distribution only on Hallasan Mt., is supported by treatment as an endemic species. Duchesnea chrysantha is distinguished from D. indica by the characteristics of light green or yellowish green leaves, thin and somewhat membranous leaflets, and broad ovate or obovate leaflets. Each complex of P. dickinsii and P. chinensis remains unresolved with regard to controversy over the taxonomic circumscription due to their external morphological variations. Additional taxonomical research and molecular population studies are required for a more in-depth understanding of the tribe Potentilleae in Korea.

Susceptibility of Anthonomus grandis (Cotton Boll Weevil) and Spodoptera frugiperda (Fall Armyworm) to a Cry1Ia-type Toxin from a Brazilian Bacillus thuringiensis Strain

  • Grossi-De-Sa, Maria Fatima;De Magalhaes, Mariana Quezado;Silva, Marilia Santos;Silva, Shirley Margareth.Buffon;Dias, Simoni Campos;Nakasu, Erich Yukio Tempel;Brunetta, Patricia Sanglard Felipe;Oliveira, Gustavo Ramos;De Oliveira Neto, Osmundo Brilhante;De Oliveira, Raquel Sampaio;Soares, Luis Henrique Barros;Ayub, Marco Antonio Zachia;Siqueira, Herbert Alvaro Abreu;Figueira, Edson L.Z.
    • BMB Reports
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    • v.40 no.5
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    • pp.773-782
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    • 2007
  • Different isolates of the soil bacterium Bacillus thuringiensis produce multiple crystal (Cry) proteins toxic to a variety of insects, nematodes and protozoans. These insecticidal Cry toxins are known to be active against specific insect orders, being harmless to mammals, birds, amphibians, and reptiles. Due to these characteristics, genes encoding several Cry toxins have been engineered in order to be expressed by a variety of crop plants to control insectpests. The cotton boll weevil, Anthonomus grandis, and the fall armyworm, Spodoptera frugiperda, are the major economically devastating pests of cotton crop in Brazil, causing severe losses, mainly due to their endophytic habit, which results in damages to the cotton boll and floral bud structures. A cry1Ia-type gene, designated cry1Ia12, was isolated and cloned from the Bt S811 strain. Nucleotide sequencing of the cry1Ia12 gene revealed an open reading frame of 2160 bp, encoding a protein of 719 amino acid residues in length, with a predicted molecular mass of 81 kDa. The amino acid sequence of Cry1Ia12 is 99% identical to the known Cry1Ia proteins and differs from them only in one or two amino acid residues positioned along the three domains involved in the insecticidal activity of the toxin. The recombinant Cry1Ia12 protein, corresponding to the cry1Ia12 gene expressed in Escherichia coli cells, showed moderate toxicity towards first instar larvae of both cotton boll weevil and fall armyworm. The highest concentration of the recombinant Cry1Ia12 tested to achieve the maximum toxicities against cotton boll weevil larvae and fall armyworm larvae were 230 ${\mu}g/mL$ and 5 ${\mu}g/mL$, respectively. The herein demonstrated insecticidal activity of the recombinant Cry1Ia12 toxin against cotton boll weevil and fall armyworm larvae opens promising perspectives for the genetic engineering of cotton crop resistant to both these devastating pests in Brazil.

Effect of Maltodextrin and Recycled Dehydration Liquid on the Quality Characteristics of Green Pepper (Maltodextrin과 재사용 탈수액이 고추의 품질에 미치는 영향)

  • Lee, Hyun-Seok;Kwon, Ki-Hyun;Kim, Jong-Hoon;Kim, Byeong-Sam;Cha, Hwan-Soo
    • Food Science and Preservation
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    • v.16 no.6
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    • pp.843-848
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    • 2009
  • Green peppers were dried using maltodextrin and recycled dehydration liquid as dehydrating agents, and the quality of dried green pepper powders was compared with that of freeze-dried and hot air-dried samples in terms of moisture content, color, antioxidant activity, capsaicinoid level, and sensory acceptability. The moisture content of maltodextrin-treatedgreen pepper powder was higher than that of samples prepared using recycled dehydration liquid. The lightness (L) value rose with increasing concentrations of maltodextrin powder or liquid. The antioxidant activities of pepper powders prepared using the molecular press dehydration method were similar to that of alpha-tocopherol, and better than that offreeze-dried or hot air-dried samples. Capsaicinoid levels fell with increasing concentrations of maltodextrin powder and liquid. The sensory evaluation data on green pepper powders prepared using the molecular press dehydration method were better than those obtained when freeze-dried and hot air-dried samples were evaluated. These results indicate that drying of green pepper powders using maltodextrin and recycled dehydration liquid as dehydrating agents is very efficient.

Simultaneous Removal Characteristics of NOx, SOx from Combustion Gases using Pulse Corona induced Plasma Chemical Processing (PPCP에 의한 연소가스 중 NOx, SOx 동시제거 특성)

  • Park, Jae-Yoon;Koh, Yong-Sul;Jung, Jang-Gun;Kim, Jung-Dal
    • Journal of Korean Society of Environmental Engineers
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    • v.22 no.2
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    • pp.211-216
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    • 2000
  • In this paper, experimental investigations were carried out to remove NOx, SOx simultaneously from a simulated combustion flue gas [$NO(0.02%)-SO_2(0.08%)-CO_2-Air-N_2$] by using a pulse corona induced plasma chemical processing. Discharge domain of wire-cylindrical plasma reactor was separated from a gas flow duct to avoid unstable discharge by aerosol particle deposited on discharge electrode and grounded electrode. The NOx, SOx removal was experimentally investigated by a reaction induced to ammonium nitrate, ammonium sulfate using a low price of aqueous NaOH solution and a small quantity of ammonia. Volume percentage of aqueous NaOH solution used was 20% and $N_2$ flow rate was $2.5{\ell}/min$ for bubbling aqueous NaOH solution. Ammonia gas(l4.82%) balanced by argon was diluted by air and was introduced to a main simulated flue gas duct through $NH_3$ injection system which was in downstream of reactor. The $NH_3$ molecular ratio(MR) was determined based on [$NH_3$] and [$NO+SO_2$]. MR is 1.5. The NOx removal rates increased in the order of DC, AC and pulse, but SOx removal rates was not significantly effected by source of electricity. The NOx removal rate slightly decreased with increasing initial concentration. but SOx removal rate was not significantly affected by initial concentration. The NOx, SOx removal rates decreased with increasing gas flow rate.

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