• Title/Summary/Keyword: 단일접합

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A Single Nucleotide Deletion resulting in Frameshift in Two Korean Neonates with Thyroxine-Binding Globulin Deficiency (단일 뉴클레오타이드 결손으로 인한 Frameshift 돌연변이로 규명된 티록신결합글로불린 결핍증 1례)

  • Park, Sang-Joon;Suh, Jin-Soon;Jung, Min-Ho;Lee, Hee-Jin;Suh, Byung-Kyu;Lee, Won-Bae;Lee, Byung-Churl
    • Clinical and Experimental Pediatrics
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    • v.48 no.11
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    • pp.1252-1255
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    • 2005
  • Abnormalities in the levels of thyroxine-binding globulin (TBG) are not associated with clinical disease and they do not require treatment. Congenital TBG deficiency is inherited in an X-linked manner. To date, some complete and partial TBG variants and one polymorphism have been identified by analysis of the TBG gene. Two male neonates were referred to us because of their low $T_4$ levels that were noted on the neonatal screening test. They showed normal levels of free $T_4$ and TSH. Their serum TBG was not detectable and those values of their parents were within the normal ranges. The genomic DNA was extracted from their white blood cells and the four coding exons of the TBG gene were amplified by using polymerase chain reaction. Sequencing of the four coding regions and all the intron/exon junctions revealed a single nucleotide deletion of the first base of the codon 352 of the mature protein in both of the neonates. This mutation resulted in a frameshift and a premature stop codon (TGA) 374. Their mothers were shown to be heterozygotes. We detected a single nucleotide deletion resulting in a frameshift in two male Korean neonates who had complete TBG deficiency.

Vinblastine Determination Measured by a Sensitive ELISA Inhibition Assay (ELISA Inhibition Assay에 의한 Vinblastine의 측정)

  • Jae Wha kim;Mi Young Han;Hee Gu Lee;Eun Young Song;Tai Wha Chung;Kyung Soo Nam;In Seong Choe
    • Biomedical Science Letters
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    • v.2 no.1
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    • pp.121-126
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    • 1996
  • Specific monoclonal antibodies(mAbs) against bis-indole alkaloids related to vinblastine were established to develop a simple and specific immunoassay system for the quantitation of Vinca alkaloids. Vinca alkaloids were extracted from tissue cultured cells of periwinkle plant (Vinca rosea L.). Spleen cells from Balb/c mice immunized with vinblastine-bovine serum albumin(VBL-BSA) conjugate as immunogen were fused with myeloma cells(Sp2/0-Ag.14) in the presence of polyethylene glycol. In the preliminary experiments, 32 clones which highly reacted with VBL-BSA conjugate were selected by ELISA(Enzyme-linked immunosorbent assay).These clones were further analyzed by inhibition assay of ELISA. The results obtained with two typical monoclonal antibodies, KN-1 and KN-2, were described. KN-1 exhibited considerable reactivities with soluble dimeric bis-indole alkaloids, whereas no cross reacted with monomeric bis-indole alkaloids. However KN-2 showed cross reactivity with mono- and di-meric bis-indole alkaloids. Furthermore, KN-1 was applied to the immunoassay system for determining the VBL amounts of in vitro cultured cell extracts. This assay system could detect dimeric vinca alkaloid as low as 0.05 nM.

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VRS-based Precision Positioning using Civilian GPS Code Measurements (가상기준점 기반 코드신호를 이용한 정밀 측위)

  • Bae, Tae-Suk
    • Journal of the Korean Society of Surveying, Geodesy, Photogrammetry and Cartography
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    • v.29 no.2
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    • pp.201-208
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    • 2011
  • With the increase in the number of smartphone users, precise 3D positional information is required by various applications. The positioning accuracy using civilian single-frequency pseudoranges is at the level of 10 m or so, but most applications these days are asking for a sub-meter level Therefore, instead of an absolute positioning technique, the VRS-based differential approach is applied along with the correction of the double-differenced (DD) residual errors using FKP (Flachen-Korrektur-Parameter). The VRS (Virual Reference Station) is located close to the rover, and the measurements are generated by correcting the geometrical distance to those of the master reference station. Since the unmodeled errors are generally proportional to the length of the baselines, the correction parameters are estimated by fitting a plane to the DD pseudorange errors of the CORS network. The DD positioning accuracy using 24 hours of C/A code measurements provides the RMS errors of 37 cm, 28 cm for latitudinal and longitudinal direction, respectively, and 76 cm for height. The accuracy of the horizontal components is within ${\pm}0.5m$ for about 90% of total epochs, and in particular the biases are significantly decreased to the level of 2-3 cm due to the network-based error modeling. Consequently, it is possible to consistently achieve a sub-meter level accuracy from the single-frequency pseudoranges using the VRS and double-differenced error modeling.

Measurement of R-134a Leakage from Vehicle Equipped Mobile Air Conditioning(MAC) System (실차를 이용한 자동차 에어컨 냉매 누출량 평가)

  • Kim, Ji Young;Seo, Chungyoul;Lee, Sangeun;Kim, Jeongsoo
    • Journal of Climate Change Research
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    • v.3 no.2
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    • pp.153-159
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    • 2012
  • CFC-12 used in mobile air conditioning(MAC) system has been replaced by R-134a, a type of HFC refrigerant, from 1991 to 1994. R-134a has since been widely used as a refrigerant of a mobile air conditioner. However, it is one of the six main green house gases listed in Kyoto Protocol, which makes it imperative to regulate its emission and develop alternative refrigerants. In this study, the concentration of leaked R-134a was measured using VT(Variable Temperature) shed and Running loss test shed to analyze the level of air conditioner refrigerant leaked in a vehicle. According to the analysis of the concentration of R-134a leaked from a vehicle parked, annual leakage amount of R-134a was in the range of 6.46~13.28 g/yr. The figure was similar with the leakage from the mobile air conditioning system currently used. In a study using the same vehicle model, a vehicle equipped with dual evaporation system had a higher leakage rate of refrigerant than a vehicle with a single evaporation system. It appears that the added fittings and joints of the dual evaporator system led to higher leakage rate. Besides, the analysis of the change in R-134a concentration under various car speed found that more refrigerant leaked under high speed(100km/hr) and but the volume of the wind did not affect to the variation of refrigerant leakage.

Evanescent-mode Waveguide Band-pass Filter Applied by Novel Metal Post Capacitor (새로운 금속막대 커패시터를 적용한 감쇄모드 도파관 대역통과 여파기)

  • Kim, Byung-Mun;Yun, Li-Ho;Lee, Sang-Min;Hong, Jae-Pyo
    • The Journal of the Korea institute of electronic communication sciences
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    • v.17 no.5
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    • pp.775-782
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    • 2022
  • In this paper, a novel small-diameter cylindrical post capacitor inserted into an evanescent-mode rectangular waveguide (EMRWG) is proposed for easier tuning. In order to feed the EMRWG, the proposed structure uses a single ridge rectangular waveguide with the same width and height as the waveguide at the input and output ends. The inserted post capacitor are made up a circular groove formed in the center of the lower part of the broad wall of the EMRWG, and a concentric cylindrical post inserted into the upper part. First, the equivalent circuit model for the proposed structure is presented. When the EMRWG and the single ridge waveguide are combined, the joint susceptance and the turns ratio of the ideal transformer are calculated by two simulations using HFSS (3d fullwave simulator, Ansoft Co.) respectively. The susceptance and resonance characteristics of the inserted post were analyzed by using the obtained parameters and the characteristics of the EMRWG. A 2-post filter with a center frequency of 4.5 GHz and a bandwidth of 170 MHz was designed using a WR-90 waveguide, and the simulation results by using the HFSS and CST, equivalent circuit model were in good agreement.

Detection of single-nucleotide polymorphism in RPB2 of Wolfiporia hoelen strains and assessment of its applicability for strain breeding (복령 균주의 RPB2 유전자 내 단일염기다형성 및 육종 활용성 분석)

  • Su Yeon, Kim;Mi-Jeong, Park;Seong Hwan, Kim;Kang-Hyeon, Ka
    • Journal of Mushroom
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    • v.20 no.4
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    • pp.199-207
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    • 2022
  • The demand for novel strains has been rising in the domestic market to increase the production of sclerotia from Wolfiporia hoelen. To improve strain breeding efficiency, we investigated whether single-nucleotide polymorphisms (SNPs) in the RNA polymerase II subunit (RPB2) gene, which may be linked to the mating type locus, are useful for distinguishing monokaryons from dikaryons in Korean W. hoelen strains. We designed a specific primer set to efficiently amplify a region of RPB2 using PCR with the genomic DNA of 12 cultivated strains and 31 wild strains of W. hoelen collected from Korea. Nucleotide sequences of the PCR-amplified RPB2 genes were determined and analyzed for the presence of SNPs among the 43 W. hoelen strains. Previously reported SNP loci were detected in the RPB2 gene of all W. hoelen strains tested. However, these previously reported SNP loci could not be applied to differentiate monokaryons from dikaryons in approximately one-third of Korean wild strains with homozygous genotypes. Three additional SNPs in the RPB2 gene, which may improve the ability to distinguish monokaryons from dikaryons, were identified by searching through the multiple sequence alignments of the 43 W. hoelen strains. The applicability of these three novel SNPs, together with the previously known SNPs, in the RPB2 gene to W. hoelen strain breeding was verified by examining the hybrid strains and their parental strains.

The relationship between catechol-O-methyltransferase gene polymorphism and coronary artery abnormality in Kawasaki disease (가와사키병의 관상동맥 이상과 catechol-O-methyltransferase 유전자의 단일염기다형성)

  • Lee, Hyo Jin;Lee, Myung Sook;Kim, Ji Sook;Kim, Eun Ryoung;Kang, Sung Wook;Kim, Soo Kang;Chung, Joo Ho;Yoon, Kyung Lim;Han, Mi Young;Cha, Seong Ho
    • Clinical and Experimental Pediatrics
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    • v.52 no.1
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    • pp.87-92
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    • 2009
  • Purpose : Many gene polymorphisms are associated with coronary artery abnormalities in Kawasaki disease. Catechol-O- methyltransferase (COMT) plays an important role in the metabolism of catecholamines, catechol estrogen, and catechol drugs. Polymorphisms of the COMT gene are reported to be associated with myocardial infarction and coronary artery abnormalities. The aim of this study was to evaluate the relationship between COMT gene polymorphisms and coronary artery abnormalities in Kawasaki disease patients. Methods : One hundred and one Korean children with Kawasaki disease and 306 healthy Korean control subjects were enrolled in this study. The polymorphisms of the COMT gene were analyzed by direct sequencing. Results : There were no differences in the genotype and allelic frequency of the rs4680 and rs769224 polymorphic sites between Kawasaki disease and control subjects. Further, no significant difference was found in the rs4680 polymorphism between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P=0.32, dominant P=0.74, recessive P=0.13). However, the distribution of the rs769224 polymorphism was significantly different between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P= 0.0077, dominant P=0.0021, recessive P=0.16). Conclusion : Our results indicate that the polymorphisms of the rs769224 gene might be related to the development of coronary artery abnormalities in Kawasaki disease.

The Study on Highly Miniaturized Active 90°C Phase Difference Power Divider and Combiner for Application to Wireless Communication (무선 통신 시스템 응용을 위한 초소형화된 능동형 90°C 위상차 전력 분배기와 결합기에 관한 연구)

  • Park, Young-Bae;Kang, Suk-Youb;Yun, Young
    • Journal of Advanced Marine Engineering and Technology
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    • v.33 no.1
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    • pp.144-152
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    • 2009
  • This paper propose highly miniaturized active $90^{\circ}C$ phase difference power divider and combiner for application to wireless communication system. The conventional passive $90^{\circ}C$ power divider and combiner cannot be integrated on MMIC because of their very large circuit size. Therefore, the highly miniaturized active $90^{\circ}C$ phase difference power divider and combiner are required for a development of highly integrated MMIC. In this paper, the highly miniaturized active $90^{\circ}C$ phase difference power divider and combiner employing InGaAs/GaAs HBT were designed, fabricated on GaAs substrate. According to the results, the circuit size of fabricated active $90^{\circ}C$ phase difference power divider and combiner were $1.67{\times}0.87$ mm and $2.42{\times}1.05$ mm, respectively, which were 31.6% and 2.2% of the size of conventional passive branch-line coupler. The output gain division characteristic of proposed divider circuit showed 8.4 dB and 7.9 dB respectively, and output phase difference characteristic showed $-89.3^{\circ}C$. The output gain coupling characteristic of proposed combiner circuit showed 9.4 dB and 10.5 dB respectively, and output phase difference characteristic showed $-92.6^{\circ}C$. The highly miniaturized active $90^{\circ}C$ phase difference power divider and combiner exhibited good RF performances compared with the conventional passive branch-line coupler.

방전 플라즈마 소결 공법을 이용한 FSW-Tool 용 $WC-5Mo_2C-5Co$ 소결체 제조와 기계적 특성 평가

  • Yun, Hui-Jun;Park, Hyeon-Guk;Lee, Seung-Min;Bang, Han-Seo;Bang, Hui-Seon;O, Ik-Hyeon
    • Proceedings of the Materials Research Society of Korea Conference
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    • 2011.10a
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    • pp.40.2-40.2
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    • 2011
  • 초경합금은 경도가 높은 재료를 말하며 일반적으로는 탄화텅스텐(WC)계 재료를 말한다. 국내 현재 초경합금 동향은 반도체 산업, 내마모성 공구, 절삭공구, 금형 등 많은 분야에 사용되어지고 있다. 또한 최근 들어 FSW (Friction Stir Welding, FSW)기술이 발전함에 따라 접합기술개발이 다양화되면서 FSW Tool의 고성능의 초경 재료가 요구되어지며 장수명의 Tool개발이 되어야 한다. 국내에서는 초경 합금 재료로 사용되어지고 있는 텅스텐 카바이드(WC)와 코발트(Co)를 이용하여 많은 연구가 진행되었다. 본 실험에서는 텅스텐 카바이드와 코발트 및 몰르브덴 카바이드를 혼합하여 소결체를 제조하였다. 실험에 사용된 텅스텐 카바이드는 높은 경도를 가지고 강한 취성을 나타내며, 소결에 어려운 단점이 있다. 이러한 단점을 코발트와 몰리브덴 카바이드를 첨가하여 소결온도를 낮춰주는 역할과 액상 소결시 텅스텐카바이드 입자사이에 침투하여 액상소결에 의한 치밀화가 가능하게 해주며 인성이 향상되어 고인성 재료를 만들 수 있었다. 본 실험에서는 합성과 치밀화가 동시에 진행되는 SPS (Spark Plasma Sintering:SPS) 장비를 이용하여 실험을 진행하였다. 이 방법은 방전플라즈마 소결 공법으로, 기존의 연소법과 열간 가압기술(Hot-press, HIP)을 결합한 방식으로 단 시간, 단일공정으로 치밀한 소결체를 얻을 수 있는 장점이 있다. 본 연구에서는 $WC-5Mo_2C$-5wt%Co 소결체 제조를 위해 원소 분말을 Horizontal ball milling 혼합하였다. 균일하게 혼합된 분말을 흑연다이에 충진하여 펄스전류와 기계적 압력을 동시에 가하여 $WC-5Mo_2C-5Co$ 복합재료를 제조하고 소결체의 밀도, 순도, 상변태, 미세조직 등을 분석 및 평가하였다. SPS공정 조건은 고진공하에서 $1,200^{\circ}C$-60MPa, 펄스비 12:1 조건으로 수행하였으며, 얻어진 $WC-5Mo_2C-5Co$ 소결체의 상대 밀도는 98%이상 이였다. 또한, 결정립 크기는 약 400 nm였으며, 경도는 $2,453kg/mm^2$를 나타내었다.

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A Single-Layer Waveguide Slot Array Antenna using Diaphragms for 38 GHz Frequency Band (칸막이 구조를 이용한 단일 평면상의 38 GHz용 도파관 슬롯 배열 안테나)

  • 황지환;오이석
    • The Journal of Korean Institute of Electromagnetic Engineering and Science
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    • v.14 no.7
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    • pp.721-726
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    • 2003
  • This paper present a waveguide slot 16${\times}$16 assay antenna with diaphragms for 38 GHz frequency band. Diaphragms are used to control the impedance and to minimize the return loss of the structure. A 20 dB Chebyshev array of 16 waveguide slots has been designed by optimizing the positions and sizes of the diaphragms. A serial feeding system with $\pi$- and T-junction power dividers has also designed to get a 20 dB Chebyshev power distribution. A 16${\times}$16 slot array was designed for a Fixed Wireless Access System at 38 GHz frequency band, manufactured using a computer controlled milling technique, and measured for the return -19 dB and the frequency band of 740 MHz.