• Title/Summary/Keyword: 3D probe

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Development of Frozen Vegetable Groundnut Product for Year-round Supply (주년공급을 위한 풋땅콩 냉동가공기술 개발)

  • 손영구;황종진;김선림;허한순;박장환;김석동;이춘기
    • Food Science and Preservation
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    • v.5 no.4
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    • pp.326-330
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    • 1998
  • Freeze storage technique is widely used for food processing to keep freshness and quality of the product. This technique was applied to fresh, unshelled groundnut to develop a new type of product which could maintain fresh taste and nutritive values even after several months of storage. The groundnut varieties, Daepungtangkong, Daekwangtangkong and Sindaekwangtangkong were grown at the experimental field of NCES in 1996. Immatured pods or groundnut were harvested around 20 to 3o days before full maturity, washed, and steamed at 100$^{\circ}C$ for 5 min. to stop enzyme activity. After vacuum packing (at -760mmHg for 10 min.) with 0.08mm polyvinyldichloride film, the pods were immediately frozen at -70$^{\circ}C$ for 24h and transfered at -20$^{\circ}C$ for long-term storage. Physico-chemical properties of frozen vegetable groundnut were investigated at 2 months after storage and compared to those of conventionally dried groundnut. After 2 months storage, the thawed kernels were very palatable with softness and fresh taste. Acid value and hardness (measured as the compression force on the probe of a texture analyzer) were much lower in frozen vegetable groundnut than those in the air-dried ones. Presence of free sugars is one of the important factors affecting groundnut taste, and the free sugar contents were considerably decreased in the frozen vegetable groundnut compared to freshly harvested groundnut. But in dried groundnut no free sugar was detected.

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Changes of Glutamate and Polyamine Levels of Hippocampal Microdialysates in Response to Occlusion of Both Carotid Arteries in Mongolian Gerbils (뇌허혈 손상에 있어서 해마-세포외액내 Glutamate와 Polyamine 농도의 변동에 관한 연구)

  • Shin, Kyung-Ho;Kim, Hyung-Gun;Choi, Sang-Hyun;Cho, So-Hyun;Chun, Yeon-Sook;Chun, Boe-Gwun
    • The Korean Journal of Pharmacology
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    • v.30 no.3
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    • pp.273-289
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    • 1994
  • Reversible brain ischemia was produced by occluding both common carotid arteries for 5 min, and the effects of aminoguanidine (AG), $DL-{\alpha}-difluoromethylornithine$ (DFMO), MK-801, and nimodipine (NM) on the ischemia induced changes of the polyamine, glutamate and acetylcholine levels in the hippocampus CA1 subfield and the specific $[^3H]\;MK-801$ binding to the hippocampus synaptosomal membranes were studied with a histological reference of the cresyl violet stained hippocampus. The basal putrescine level $(PT:\;74.4{\pm}8.8\;nM)$ showed a rapid increase (up to 1.7 fold) for 5 min of ischemia, remained significantly increased for 6 h, and then resumed the further increase to amount gradually up to about 3 fold 96 h after recirculation. However, the level of spermidine was little changed, and the spermine level showed a transient increase during ischemia followed by a sustained decrease to about 40% of the preischemic level after recirculation. The increase of PT level induced by brain ischemia was enhanced with AG or MK-801, but it was reduced by DFMO or NM. The basal glutamate level $(GT:\;0.90{\pm}0.l4\;{\mu}M)$ rapidly increased to a peak level of $8.19{\pm}1.14\;{\mu}M$ within 5 min after onset of the ischemia and then decreased to the preischemic level in about 25 min after recirculation. And NM reduced the ischemia induced increase of GT level by about 25%, but AG, DFMO and MK-801 did not affect the GT increase. The basal acetylcholine level $(ACh:\;118.0{\pm}10.5\;{\mu}M)$ did little change during/after brain ischemia and was little affected by AG or NM. But DFMO and MK-801, respectively, produced the moderate decrease of ACh level. The specific $[^3H]\;MK-801$ binding to the hippocampus synaptosomal membrane was little affected by brain ischemia for 5 min. The control value (78.9 fmole/mg protein) was moderately decreased by AG and MK-801, respectively but was little changed by DFMO or NM. The microscopic findings of the brains extirpated on day 7 after ischemia showed severe neuronal damage of the hippocampus, particularly CA1 subfield. NM and AG moderately attenuated the delayed neuronal damage, and DFMO, on the contrary, aggravated the ischemia induced damage. However, MK-801 did not protect the hippocampus from ischemic damage. These results suggest that unlike to the mode of anti-ischemic action of NM, AG might protect the hippocampus from ischemic injury as being negatively regulatory on the N-methyl-D-aspartate (NMDA) receptor function in the hippocampus.

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Validation of Stem-loop RT-qPCR Method on the Pharmacokinetic Analysis of siRNA Therapeutics (Stem-loop RT-qPCR 분석법을 이용한 siRNA 치료제의 생체시료 분석법 검증 및 약물 동태학적 분석)

  • Kim, Hye Jeong;Kim, Taek Min;Kim, Hong Joong;Jung, Hun Soon;Lee, Seung Ho
    • Journal of Life Science
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    • v.29 no.6
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    • pp.653-661
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    • 2019
  • The first small interfering RNA (siRNA) therapeutics have recently been approved by the Food and Drug Administration in the U.S., and the demand for a new RNA therapeutics bioanalysis method-which is essential for pharmacokinetics, including the absorption, distribution, metabolism, and excretion of siRNA therapeutics-is rapidly increasing. The stem-loop real-time qPCR (RT-qPCR) assay is a useful molecular technique for the identification and quantification of small RNA (e.g., micro RNA and siRNA) and can be applied for the bioanalysis of siRNA therapeutics. When the anti-HPV E6/E7 siRNA therapeutic was used in preclinical trials, the established stem-loop RT-qPCR assay was validated. The limit of detection was sensitive up to 10 fM and the lower limit of quantification up to 100 fM. In fact, the reliability of the established test method was further validated in three intra assays. Here, the correlation coefficient of $R^2$>0.99, the slope of -3.10 ~ -3.40, and the recovery rate within ${\pm}20%$ of the siRNA standard curve confirm its excellent robustness. Finally, the circulation profiles of siRNAs were demonstrated in rat serum, and the pharmacokinetic properties of the anti-HPV E6/E7 siRNA therapeutic were characterized using a stem-loop RT-qPCR assay. Therefore, the stemloop RT-qPCR assay enables accurate, precise, and sensitive siRNA duplex quantification and is suitable for the quantification of small RNA therapeutics using small volumes of biological samples.

Practical Applications of DNA Marker-Assisted Selection and OPU-Derived IVF Embryo Transfer for the Production of High Quality Meat in Hanwoo I. Collection of Follicular Oocytes with Ultrasound-Guided Transvaginal Ovum Pick-Up from DNA Marker-proved Hanwoo (유전자 분석을 통하여 선발된 한우로부터 초음파 유래 체외수정란 이식에 의한 고품질 한우 생산기술의 실용화 I. DNA 검정우에서 초음파기기를 이용한 난포란의 채란에 관한 연구)

  • 박희성;이지삼;진종인;박준규;홍승표;이명열;정장용
    • Journal of Embryo Transfer
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    • v.16 no.3
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    • pp.183-191
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    • 2001
  • This study was designed to establish the superior method for IVF embryos from DNA marker-proved Hanwoo cattle. DNA markers related to marbling score were identified using DNA fingerprinting with Ml3 probe and restriction enzyme Hae III. Oocytes were aspirated from unstimulated. immature ovarian follicles using a combined method of rectal ovarian-palpation and transvaginal ultrasound-guidance(6.5MHz) under local abesthesia. The aspirated oocytes were washed twice with fresh D-PBS containing 5% FBS and were rewashed 4 to 5 times with TCM-199 containing 5% FBS. A morphological grade of I to IV was assigned to each oocyte. Data were analysed using the GLM procedure of SAS. Mean number of follicles identified on ultrasound was 5.5 $\pm$2.9 in right and 4.3 $\pm$2.8 in left ovaries, respectively. The highest follicles(16.6$\pm$2.6) were found in 5101 cow compared to others. Recovery rate of follicular oocytes in individual cow was highest in 5101 cow with 89.3% in > 2mm and 94.0% in $\leq$ 2mm follicles. Total recovery rate was significantly(P<0.01) higher in $\leq$ 2mm(85.7%, 130/154) than > 2mm follicles(74.2%, 201/271). Significantly more oocytcs of Grade IV were recovered from > 2mm follicles. Mean number follicles recovered was 4.8$\pm$3.7. 3.0$\pm$3.4 and 0.3$\pm$0.6 in $\leq$2mm, 2~6mm and $\geq$6mm follicles. respectively. Our results imply that the more fertilizablc oocytes can be recovered from invisible-immature follicles by the combination of simultaneous rectal ovarian-palpation and ultrasound-guided approach in Hanwoo cattle.

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Effects of thickness of GIZO active layer on device performance in oxide thin-film-transistors

  • Woo, C.H.;Jang, G.J.;Kim, Y.H.;Kong, B.H.;Cho, H.K.
    • Proceedings of the Korean Institute of Electrical and Electronic Material Engineers Conference
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    • 2009.06a
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    • pp.137-137
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    • 2009
  • Thin-film transistors (TFTs) that can be prepared at low temperatures have attracted much attention due to the great potential for flexible electronics. One of the mainstreams in this field is the use of organic semiconductors such as pentacene. But device performance of the organic TFTs is still limited by low field effect mobility or rapidly degraded after exposing to air in many cases. Another approach is amorphous oxide semiconductors. Amorphous oxide semiconductors (AOSs) have exactly attracted considerable attention because AOSs were fabricated at room temperature and used lots of application such as flexible display, electronic paper, large solar cells. Among the various AOSs, a-IGZO was considerable material because it has high mobility and uniform surface and good transparent. The high mobility is attributed to the result of the overlap of spherical s-orbital of the heavy pest-transition metal cations. This study is demonstrated the effect of thickness channel layer from 30nm to 200nm. when the thickness was increased, turn on voltage and subthreshold swing were decreased. a-IGZO TFTs have used a shadow mask to deposit channel and source/drain(S/D). a-IGZO were deposited on SiO2 wafer by rf magnetron sputtering. using power is 150W, working pressure is 3m Torr, and an O2/Ar(2/28 SCCM) atmosphere at room temperature. The electrodes were formed with Electron-beam evaporated Ti(30nm) and Au(70nm) structure. Finally, Al(150nm) as a gate metal was evaporated. TFT devices were heat treated in a furnace at $250^{\circ}C$ in nitrogen atmosphere for an hour. The electrical properties of the TFTs were measured using a probe-station to measure I-V characteristic. TFT whose thickness was 150nm exhibits a good subthreshold swing(S) of 0.72 V/decade and high on-off ratio of 1E+08. Field effect mobility, saturation effect mobility, and threshold voltage were evaluated 7.2, 5.8, 8V respectively.

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Comparison by Measurement Sites in Temperature of Neonates : Ear-based rectal, Rectal, Axilla, Abdominal Temperature (측정부위별 신생아의 체온 비교 : 고막기준 직장체온, 직장체온, 액와체온, 복부체온)

  • 김화순;안영미
    • Journal of Korean Academy of Nursing
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    • v.29 no.4
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    • pp.903-916
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    • 1999
  • The purpose of this study was to compare the ear-based rectal temperature measured with a tympanic thermometer with the rectal temperature measured with a glass mercury thermometer in order to test the accuracy of tympanic thermometer and to determine relationship among rectal, axilla, and abdominal temperature in neonates. The samples consisted of thirty four neonates admitted to the neonatal intensive care unit and nursery at an university affiliated hospital. The mean age of the subjects was 4.9 days. The ear-based rectal temperatures were taken with a tympanic thermometer in rectal mode (First Temp Genius 3000). Rectal and axilla temperatures were taken with a glass mercury thermometer, Abdominal temperature was continuously monitored with the probe connected to the servo controller of incubator. The results of the study can be summarized as follows : 1. Intrarater comparison : Agreement between the first and the second ear-based rectal temperature was 97% within 0.1$^{\circ}C$. 2. Comparison of ear-based rectal temperature and the rectal temperature from a glass mercury thermometer : ear-based rectal temperature ranged from 36.95$^{\circ}C$d to 37.95$^{\circ}C$, with a mean of 37.58$^{\circ}C$(SD=0.22$^{\circ}C$). Rectal temperature from a glass mercury thermometer ranged from 36.2$0^{\circ}C$ to 37.2$0^{\circ}C$, with a mean 36.75$^{\circ}C$(SD=0.29). The mean difference between both temperatures was 0.84$^{\circ}C$. The correlation coefficient between both temperatures was r=0.77(p=0.00). 3. Comparison of rectal and axilla temperature : Axilla temperature ranged from 35.8$0^{\circ}C$ to 37.1$0^{\circ}C$, with a mean of 36.55$^{\circ}C$. The mean absolute difference between the rectal and axilla temperature was 0.23$^{\circ}C$. The correlation coefficient between rectal and axilla was r=0.67. 4. Comparison of axilla and abdominal temperature : Abdominal temperature ranged from 36.2$0^{\circ}C$ to 37.0$0^{\circ}C$, with a mean of 36.58$^{\circ}C$. The mean absolute difference between axilla and abdominal temperature was only -0.03$^{\circ}C$. Findings of this study suggest that ear-based rectal temperature overestimates the actual rectal temperatures in neonates. Therefore, the interchangeble use of both temperatures in clinics seems problematic. The site offset(adjustment value) programmed in rectal mode of the tympanic thermometer needs to be readjusted. Choosing one optimal site for temperature measurement for each patient, and using the specific site consistently would result in more consistent measurements of changes in body temperature, and thus can be more effective in diagnosing fever or hypothermia.

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Cloning and Transcription Analysis of Sporulation Gene (spo5) in Schizosaccharomyces pombe (Schizosaccharomyces bombe 포자형성 유전자(spo5)의 Cloning 및 전사조절)

  • 김동주
    • The Korean Journal of Food And Nutrition
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    • v.15 no.2
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    • pp.112-118
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    • 2002
  • Sporulation in the fission yeast Schizosaccharomyces pombe has been regarded as an important model of cellular development and differentiation. S. pombe cells proliferate by mitosis and binary fission on growth medium. Deprivation of nutrients especially nitrogen sources, causes the cessation of mitosis and initiates sexual reproduction by matting between two sexually compatible cell types. Meiosis is then followed in a diploid cell in the absence of nitrogen source. DNA fragment complemented with the mutations of sporulation gene was isolated from the S. pombe gene library constructed in the vector, pDB 248' and designated as pDB(spo5)1. We futher analyzed six recombinant plasmids, pDB(spo5)2, pDB(spo5)3, pDB(spo5)4, pDB(spo5)5, pDB (spo5)6, pDB(spo5)7 and found each of these plasmids is able to rescue the spo5-2, spo5-3, spo5-4, spo5-5, spo5-6, spo5-7 mutations, respectively. Mapping of the integrated plasmid into the homologous site of the S. pombe chromosomes demonstrated that pDB(spo5)1, and pDB(spu5)Rl contained the spo5 gene. Transcripts of spo5 gene were analyzed by Northern hybridization. Two transcripts of 3.2 kb and 2.5kb were detected with 5kb Hind Ⅲ fragment containing a part of the spo5 gene as a probe. The small mRNA(2.5kb) appeared only when a wild-type strain was cultured in the absence of nitrogen source in which condition the large mRNA (3.2kb) was produced constitutively. Appearance of a 2.5kb spo5-mRNA depends upon the function of the meil, mei2 and mei3 genes.

Practical Applications of DNA Marker-Assisted Selection and OPU-Derived IVF Embryo Transfer for the Production of High Quality Meat in Hanwoo II. Production of IVF Embryos Derived Transvaginal Ovum Pick-up from DNA Marker-Proved Hanwoo (유전자 분석을 통하여 선발된 한우로부터 초음파 유래 체외수정란 이식에 의한 고품질 한우 생산기술의 실용화 II. DNA 검정우로부터 초음파 유래 체외수정란의 생산에 관한 연구)

  • 박희성;이지삼;진동인;박준규;홍승표;이명열;정장용
    • Journal of Embryo Transfer
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    • v.16 no.3
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    • pp.193-201
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    • 2001
  • This study was designed to examine the factors affecting in fertilization and development of embryos in vitro, and to examine whether zone drilling by laser irradiation can improve the hatching rate of IVF embryos from DNA marker-proved Hanwoo. DNA markers related to marbling score were identified using DNA fingerprinting with Ml3 probe and restriction enzyme Hae III. Oocytes were aspirated from immature ovarian follicles using a combined method of rectal ovarian-palpation and transvaginal ultrasound-guidance(6.5MHz) under local anesthesia. The aspirated oocytes were washed twice with fresh D-PBS containing 5% FBS and were rewashed 4 to 5 times with TCM-199 containing 5% FBS. A morphological grade of I to IV was assigned to each oocyte. Data were analyzed using the GLM procedure of SAS. Sperm separation methods did not have any significant effect on cleavage or developmental abilities of IVF embryos. Significantly(P<0.05) higher cleavage rate was observed in embryos from GI(60.0%, 3/5), GII(69.2%, 18/26) and GIII(62.1%, 59/95) compared to embryos from GIV oocytes(36.2%, 25/69). And the developmental rate to blastocyst stage was higher(P<0.05) in embryos from GI(33.3%, 1/3) and GII oocytes(38.9%, 7/18) than those from GIII(16.9%,10/59) and GIV oocytes(4.0%, 1/25). There was no significant difference in development of IVF embryos to blastocyst by media for in vitro culture. Proportion of hatched blastocyst was significantly(P<0.05) higher in embryos received zona drilling by laser than those of non-drilled.

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Metal 첨가물질에 따른 비정질 IGZO 투명전극 특성 연구

  • Sin, Han-Jae;Hwang, Do-Yeon;Lee, Jeong-Hwan;Lee, Dong-Ik;Park, Seong-Eun;Park, Jae-Seong;Kim, Seong-Jin;Lee, Yeong-Ju;Seo, Chang-Taek
    • Proceedings of the Korean Vacuum Society Conference
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    • 2013.02a
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    • pp.368-370
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    • 2013
  • 투명 전극은 전기전도도를 갖는 동시에 가시광선을 투과하는 소재를 말하며, 구체적으로는 빛의 파장이 400~700 nm 영역대의 가시광선을 80% 이상 투과하며 전기전도도가 비저항으로 $10^{-3}{\Omega}cm$이하이거나 면저항이 $10^3{\Omega}$/${\Box}$소재를 의미한다. 투명 전극은 전기전도도에 따라 사용되는 용도가 다양하다. LCD, PDP, OLED 와 같은 평판디스플레이 및 3D 디스플레이의 투명전극으로 사용되는 핵심재료일 뿐만 아니라 터치스크린, 투명필름, 대전방지막, 열반사막, EMI 방지막, 태양전지 분야에 광범위하게 이용되고 있다. 일반적으로, 투명전극 박막에 가장 많이 사용되고 있는 소재는 ITO (indium tin oxide)이나, 주성분인 In의 사용량 증가로 상용 ITO 타겟 가격이 급등하고 있음으며, 고가의 ITO 타겟을 대체하기 위한 저가의 투명전극 소재 개발이 절대적으로 요구되며, 신규 소재 개발을 통한 기술력 우위 선점이 필수적으로 요구되는 상황이다. 본 연구에서는 기존에 디스플레이 분야에서 널리 활용되는 고가의 ITO를 대체하기 위한 다성분 금속산화물 투명전극 스퍼터링 타겟 제조기술을 개발하기 위한 연구로서, Metal이 첨가된 In-Ga-Zn-O기반의 3성분계 투명도전성 소재를 조성설계, 고밀도 균질 타겟 제조 및 투명전극 박막을 형성하는 연구를 실시하였다. 고체산화물 산화인듐(In2O3)분말, 산화갈륨(Ga2O3) 분말그리고 산화아연(ZnO)분말과 Metal을 몰비로 칭량한 후 분말을 폴리에틸렌제 포트에 넣고 에탄올을 충분히 채운 후 지르코니아(ZrO2) 볼(ball)을 이용하여 24 h 동안 볼 밀링(ball milling) 방법으로 혼합한 뒤, $120^{\circ}C$의 플레이트위에서 마그네틱 바로 stirring하면서 건조하였다. 이 분말을 건조기에서 완전히 건조한 후 알루미나 유발을 이용해서 pulverizing한 후 sieving기를 이용하여 분말의 조립화를 하였다. 이 분말을 금형에 넣고 300 kg/$cm^2$의 압력으로 press하여 성형한 뒤 대기중에서 소결하였다 소결을 위한 승온 온도는 $10^{\circ}C$/min이었고 소결은 $1,450^{\circ}C$에서 6 h 동안 하였다. IGZO target의 조성 비율은 1:1:12 (mol%)를 사용하였으며, 첨가한 Metal은 Boron (B), Germanium (Ge), Barium (Ba)을 사용하여 타겟을 제작하였다. M-IGZO 박막은RF magnetron Sputter를 이용하여 증착하였으며, 앞선 실험에서 제작한 타겟을 사용하여 M-IGZO박막을 투명전극으로 사용하기 위한 각각의 특성을 파악하였다. 모든 박막은 상온에서 증착을 하였으며, 증착된 박막두께를 측정하기 위해 ${\alpha}$-step IQ를 사용하였고, 광학적 특성을 분석하기 위해 UV-Visible spectrophotometer 로 투과율을 측정하였다. 그리고 전기적 특성을 측정하기 위해 Hall effect measurement 및 4-probe를 사용하였으며, 결정성 분석을 위하여 XRD를 이용하여 분석하였다. 표1은 M-IGZO타겟을 사용하여 증착시간에 따른 면저항 특성을 나타내었다. Ge, B, Ba이 첨가된 IGZO 박막은 증착시간이 증가할수록 면저항이 낮아짐을 알 수 있었다. 또한, Ge이 첨가된 IGZO 박막이 다른 금속이 첨가된 IGZO 박막의 면저항보다 현저히 낮음을 알 수 있었다. Fig. 1(a), (b), (c)는 각 타겟을 동일한 조건으로 증착을 하여 광학적특성을 나타내는 그래프이다. GZO 박막의 광학적 특성을 보면 가시광 영역에서 평균 투과율은 모두 80% 이상으로 우수한 광투과 특성을 보여 투명전자소자로 사용가능하다. 특히, 자외선 영역을 모두 차단하는 UV cut 능력이 우수함을 알 수 있었다. 따라서, 금속이 첨가된 IGZO 박막을 태양전지용 투명전극으로 사용할 경우, 자외선에 의하여 수명이 단축되는 현상을 줄여줄 수 있음을 기대할 수 있으며 내구성 향상에 크게 기여할 것으로 보인다. Fig. 2는 Ge=0, 0.5, 5%인 IGZO 투명전극을 총 40회 반복하여 증착을 실시한 후 각각의 면저항을 측정한 결과이다. 실험결과에 따르면 Ge가 0%, 5%인 IGZO 투명전극은 증착을 거듭할수록 면저항이 증가하는 결과를 나타내었으며, 0.5%인 IGZO 투명전극은 점차 안정화되어가는 결과를 나타내었다. 따라서 안정화 되었을 때 평균 면저항은 26ohm/sq.로 나타났으며, 광투과율은 Fig. 3과 같이 가시광영역에서 평균 80%이상의 결과를 보였으며, 550 nm에서는 86.36%의 우수한 특성을 나타내었다. 본 연구에서는 Metal이 첨가된 In-Ga-Zn-O기반의 3성분계 투명도전성 소재 target을 제작하여 RF magnetron sputter로 박막을 형성한 후 특성을 비교하였다. M-IGZO target 중 Ge (0.5%)을 첨가한 IGZO 타겟을 사용한 투명전극이 가장 우수한 특성을 보였으며, 제작된 M-target의 In 비율이 30% 정도로 기존의 ITO (90%) 대비하여 투명전극 제작 단가를 절감할 수 있다.

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The Study of DNA Mutations of Phenylketonuria in Koreans (한국인에서의 페닐케톤뇨증의 유전자변이에 대한 고찰)

  • Yoo, Su-Jung;Hong, Yong-Hee;Lee, Yong-Wha;Jung, Sung-Chul;Ki, Chang-Seok;Lee, Dong-Hwan
    • Journal of Genetic Medicine
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    • v.5 no.1
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    • pp.26-33
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    • 2008
  • Purpose : Phenylketonuria(PKU) is an inborn error of metabolism and a genetic disorder resulting from a deficiency of phenylalanine hydroxylase(PAH) and decreased activity of tetrahydrobiopterin(BH4).In this study the correlation between the DNA mutation and clinical manifestations was investigated and PAH DNA mutations were compared bewteen Asian and Caucasian populations. Methods : DNA was isolated from peripheral leukocytes. The PAH gene was amplified by Polymerase Chain Reaction(PCR) and the sequence was analyzed with Multiplex Ligation-dependent Probe Amplification(MLPA). Results : We characterized the PAH gene of 102 independent Korean patients with PKU. PAH nucleotide sequence analysis revealed 44 different mutations, including 10 novel mutations comprising 9 missense mutations(N207D, K95del, A447P, G344D, P69S, S391I, A202T, G103S, and I306L) and 1 novel splice-site variant mutation(IVS10-3C>G). R243Q was the most prevalent mutation in this study. A259T has not previously been reported in Asian populations, but we found that this mutation had a frequency of 10.1% in our study. Furthermore, the genotypes of $BH_4$ responsive patients were analyzed and were divided into two groups: $BH_4$ medication-only group and $BH_4$ medication with diet therapy group. In the $BH_4$ medication-only group and $BH_4$ medication with diet therapy group, R241C was the most common mutation. Conclusion : Novel mutations in the PAH gene of PKU patients are still being discovered. Additional information as to the frequency of mutations in the tetrahydrobiopterine responsive gene is also accumulating. We anticipate that knowledge of these PKU gene mutations will assist the diagnosis, genetic counseling, and therapeutic treatment of PKU patients in future.

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