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Mutational Analysis of MECP2 Gene in 34 Rett Syndrome (Rett 증후군 34례의 MECP2 유전자 변이에 관한 연구)

  • Park, Sang Jo;Hwang, Tae Gyu;Son, Byeong Hee;Kim, Chul Min
    • Clinical and Experimental Pediatrics
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    • v.45 no.10
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    • pp.1263-1272
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    • 2002
  • Purpose : Rett syndrome(RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000-15,000 female births worldwide. It was initially described by Andreas Rett in 1966. RTT involves developmental regression characterized stereotypic hand movements, tremors, gait apraxia, seizures, deceleration of head growth after the age of 6-18 months. The disease-causing gene was identified as MECP2 on chromosome Xq28. We carried out mutational analysis of MECP2 genes in RTT patients. Methods : Whole blood(5 cc) of 34 sporadic RTT patients was collected in EDTA-anticoagulated tubes. Genomic DNA was extracted from peripheral blood using the E.Z.N.A. blood DNA kit. Four exons of the MECP2 gene were amplified by PCR in 34 Korean with RTT. We carried out PCR divided the exon three into two parts and the exon four into five parts. Primer sequences designed by Amir et al. in 1999 were almost used(AF030876). Sequencing primers used were the same as PCR. DNA sequencing reactions were performed using an ABI 377 DNA sequencer and ABI PRISM dye terminator cycle sequencing reaction kit(Perkin-elmer). The results were compared with the normal DNA sequence(X99686). To confirm the change of sequence on novel mutations, RFLP analysis was performed. Results : The MECP2 mutations were detected in 23(67.6%) of the 34 patients. The mutations consisted of 12 different types including nine missense and three nonsense mutations. Of these, three (L100V, G161E and T311M) mutations were newly identified. Most of the mutations discovered are located within MBD(39.1%) and TRD(39.1%). In this study, three(T158M, R270X, R306C) mutations were identified high frequency. Conclusion : MECP2 gene was also an important cause of Korean RTT patients. MECP2 gene study is an important tool for diagnosis of Korean RTT patients.

Improved Cerebral Blood Flow and Cerebrovascular Reserve after Carotid Endarterectomy in Patients with Carotid Stenosis and Contralateral Carotid Occlusion: Acetazolamide Stress Brain SPECT Study (반대측 내경동맥 폐쇄를 동반한 경동맥 협착에서 경동맥 내막절제술 후 뇌혈류 및 뇌혈관 예비능의 증가: 아세타졸아마이드 부하 뇌혈류 SPECT 연구)

  • Kim, Jae-Seung;Moon, Dae-Hyuk;Kim, Geun-Eun;Kim, Jong-S.;Kweon, Sun-Uck;Cho, Yong-Pil;Ryu, Jin-Sook;Lee, Hee-Kyung
    • The Korean Journal of Nuclear Medicine
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    • v.33 no.4
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    • pp.352-361
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    • 1999
  • Purpose: Carotid endarterectomy nay benefit patients with bilateral carotid stenosis by improving cerebro-vascular hemodynamics of ipsilateral as well as contralateral cerebral hemispheres. We investigated cerebro-vascular hemodynamics after carotid endarterectomy in patients with contralateral carotid occlusion by acetazolamide stress brain SPECT. Materials and Methods: Subjects were 14 symptomatic patients (all men, mean age 66 yrs) with carotid stenosis (>50%) with contralateral carotid occlusion. Acetazolamide stress Tc-99m ECD brain SPECTs were performed within 2 weeks before and after carotid endarterectomy using one day protocol. Cerebral blood flow (CBF) and cerebrovascular reserve (CVR) were assessed visually. In 12 patients, correlation between the patency of proximal anterior cerebral or anterior communicating arteries (A1/A-comm) and the improvement of CBF or CVR after endarterectomy was assessed. Results: Preoperative SPECT showed reduced CBF in 2 ipsilateral and 10 contralateral hemispheres. CVR was reduced in 4 ipsilateral and 9 contralateral hemispheres. Of 12 hemispheres with reduced CBF, 2 hemispheres (16.7%) showed improvement of CBF after endarterectomy. However, reduced CVR was improved in all 4 ipsilateral and 7 of 9 (78%) of contralateral hemispheres after endarterectomy. Three of4 with stenotic Al/A-comm and 4 of 8 with patent A1/A-comm had reduced contralateral CVR. Reduced contralateral CVR improved in all 3 patients with stenotic A1/A-comm and 3 of 4 with patent A1/A-comm. Conclusion: Acetazolamide stress brain SPECT demonstrated improvement of compromised cerebrovascular reserve in not only ipsilateral but also contralateral hemispheres of patients with contralateral carotid occlusion after carotid endarterectomy, and may, therefore, be useful for evaluating cerebral blood flow and cerebrovascular reserve after carotid endarterectomy.

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Global Ocean Data Assimilation and Prediction System in KMA: Description and Assessment (기상청 전지구 해양자료동화시스템(GODAPS): 개요 및 검증)

  • Chang, Pil-Hun;Hwang, Seung-On;Choo, Sung-Ho;Lee, Johan;Lee, Sang-Min;Boo, Kyung-On
    • Atmosphere
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    • v.31 no.2
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    • pp.229-240
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    • 2021
  • The Global Ocean Data Assimilation and Prediction System (GODAPS) in operation at the KMA (Korea Meteorological Administration) is introduced. GODAPS consists of ocean model, ice model, and 3-d variational ocean data assimilation system. GODAPS assimilates conventional and satellite observations for sea surface temperature and height, observations of sea-ice concentration, as well as temperature and salinity profiles for the ocean using a 24-hour data assimilation window. It finally produces ocean analysis fields with a resolution of 0.25 ORCA (tripolar) grid and 75-layer in depth. This analysis is used for providing a boundary condition for the atmospheric model of the KMA Global Seasonal Forecasting System version 5 (GloSea5) in addition to monitoring on the global ocean and ice. For the purpose of evaluating the quality of ocean analysis produced by GODAPS, a one-year data assimilation experiment was performed. Assimilation of global observing system in GODAPS results in producing improved analysis and forecast fields with reduced error in terms of RMSE of innovation and analysis increment. In addition, comparison with an unassimilated experiment shows a mostly positive impact, especially over the region with large oceanic variability.

Comparison between phosphorus absorption coefficient and Langmuir adsorption maximum (전토양(田土壤) 인산(燐酸)의 흡수계수(吸收係數)와 Langmuir 최대흡착량(最大吸着量)과의 비교연구(比較硏究))

  • Ryu, In Soo
    • Korean Journal of Soil Science and Fertilizer
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    • v.8 no.1
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    • pp.1-17
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    • 1975
  • Laboratory experiments on the phosphorus adsorption by soil were conducted to evaluate the parameters for determination of phosphorus adsorption capacity of soil, which serve as a basis for establishing the amount of phosphorus required to improve newly reclaimed soil and volcanic ash soil. The calculated Langmuir adsorption maxima varied from 6.2-32.9, 74.7-90.4 and 720-915mg p/100g soil for cultivated soils, non-cultivated soils, and volcanic ash soils respectively. The phosphorus absorption coefficient ranged from 116-179, 161-259 and 1,098-1,205mg p/100g soil for cultivated soils, non-cultivated soils, and volcanic ash soils respectively. The ratio of the phosphorus absorption coefficient to Langmuir adsorption maximum was low in soils of high phosphorus adsorption capacity (1.3-1.5) and high in soils of low phosphorus adsorption capacity (2.2-18.7). Changes in the amount of phosphurus adsorption induced by liming and preaddition of phosphorus were hadly detected by the phosphorus absorption coefficient, which is measured using a test solution with a relatively high phosphorus concentration. The Langmuir adsorption maximum was a more sensitive index of the phosphorus adsorption capacity. The Langmuir adsorption maxima of the non-cultivated soils, which were treated with an amount of calcium hydroxide equivalent to the exchangeable Al and incubated ($25-30^{\circ}C$) for 40 days at field capacity, were lower than the original soils. The change in the adorption maximum on incubation following the liming of soils was insignificant for other soils. The secondary adsorption maximum of soils, which received phosphorus equivalent to the Langmuir adsorption maximum of the limed soils incubated ($25-30^{\circ}C$) for 50 days at held capacity, was 74.5, 5.6 and 23.8% of the primary adsorption maximum for volcanic ash soils, non-cultivated soils, and cultivated soils respectively. The amount of phosphorus adsorbed by soils increased quadratically with the concentration of phosphorus solution added to the soils. The amount of phosphorus adsorbed by 5-g soil samples from 100ml of 100- and 1,000mg p/l solution for the mineral soils and volcanic ash soils respectively was found to be close to the Langmuir adsorption maximum. The amount of the phosphorus adsorbed at these concentrations is defined as a saturation adsorption maximum and proposed as a new parameter for the phosphorus adsorption capacity of the soil. The evaluation of the phosphorus adsorption capacity by the saturation adsorption maximum is regarded as a more practical method in that it obviates the need for the various concentrations used for the determination of the Langmuir adsorption maximum.

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A Study with $P^{32}$ on Availability of phosphorus in Pasture Soils of Jeju Island ($P^{32}$에 의(依)한 제주목야토양(濟州牧野土壤)의 유효인산(有效燐酸)에 관(關)한 연구(硏究) -목초별(牧草別) 토양(土壤) 인산(燐酸)의 이용력(利用力)에 관(關)하여-)

  • Park, H.;Kim, H.K.;Lee, C.Y.
    • Applied Biological Chemistry
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    • v.9
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    • pp.111-118
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    • 1968
  • A pot experiment with $P^{32}$ was carried out to investigate the soil phosphorus availability to four leguminous forage crops and three graminaceous, of black volcanic ash soil and red one. Soil phosphorus was extracted with 6 different extractants and also fractionated in Fe, Al and Ca phosphorus. The results were: 1) Soil phosphorus availability was in decreasing order of Italian rye grass${\gg}$ soybean> cassia> corn> weeping love grass${\gg}$ Korean lespedeza> Red clover and they might be grouped into three levels by A-value, over 1000, 200-500 and below 40 $p_{2}O_{5}\;kg/ha$. 2) The amount of various available phosphorus and phosoborus fraction in the black soil was higher than that in the red soil. No difference in phosphorus availabiliy to forage crops was shown between two soils. Therefore an extractant able to draw out similar amount of phosphorus from two soil will be suitable for determining the phosphorus availability index. 3) Two extractants, one extracting 20 ppm as maximum and the other extracting 100 ppm as minimum will be recommendable for determining the availability of phosphorus; the former for red clover and Lespedeza and the latter for others. Truog method may be good for the former but no appropriate method for the latter was found in the methods used. 4) T/R ratios of legumes were negatively correlated at 5% level with % phosphorus from fertilizer (% pdF). Legumes showed below 50 of % pdF over 5 of T/R ratio and over 80 of % pdF below 5 of T/R.

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Measurement of Leaf Area of Soybeans (대두엽면적의 간이측정법)

  • Kwon-Yawl Chang
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.4 no.1
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    • pp.93-95
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    • 1968
  • The importance of leaf area as related to transpiration and photosynthesis is generally recognized. In general, a compound leaf of soybean consist of one main leaflet and two side leaflets from each node of the stem. Takahashi and Fukuyama (1919) classified soybeans into three types, namely the long leaf type, round leaf type, and intermediate type, in which the last one had round leaves at the base and long leaves in the upper part of the stem. Nagai (1925) and Takahashi (1935). dealt with the genetics of the leaf form and association with other characters. The closely relationships, the correlation coefficients from 0.64 to 0.73, were shown between the leaf area and the soybean yield in the experiments by Nagai (1942). Nagata (1950) also tested the varietal differences of the variation of leaf length and its ratio to the leaf width on the nodes of stem, and finally divided varieties into five types. Three methods of measuring area of strawberry leaves were used by Darrow (1932). The first involved determining a factor to be used with length or length ${\times}$width measurements. The second method involved placing leaves on pieces of cardboard of known area cut to the shape of the leaves. Direct use of the planimeter on intact leaves was Darrow's third method. Miller (1938) enumerated several methods to determine the leaf surface area in plants, some of which were extremely laborious and required removing leaves from plants. They included tracing outlines of leaves on paper and measuring the enclosed area with a planimeter or cutting out the traced areas and comparing the weights obtained with the weight of a known paper. Another method involved placing the form of the leaf on sensitized paper with the area being determined by measuring or weighing as above. Miller further stated that the photoelectric cell can also be utilized to estitmate leaf area. Working with field beans, Davis (1940) found that 0.004517 (length ${\times}$ width) of the center leaflet was the most nearly accurate of four methods attempted. A simple procedure to measure leaf area in corn was devised 1 y Montgomery (1911) and used by Kiesselbach (1950). The formula was length ${\times}$ width ${\times}$ 0.75. Stickler et al. (1961) have successfully used length times width ${\times}$ 0.747 to estimate area of grain sorghum leaves. Bhan and Pande(1966) has also used length ${\times}$ width ${\times}$ 0.802 to determine leaf area of rice varieties. The main objectives of the present investigation were to develop an accurate, rapid method to determine leaf area in soybean varieties and to examine certain data associated with leaf area determinations.

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A Study of Removal Property of Harmful Algal Blooms by Hwangto and Oriental Mineral Medicines (황토와 광물성 한약재의 적조구제 특성에 관한 연구)

  • Kim, Pil-Geun;Sung, Kyu-Youl;Jang, Young-Nam;Park, Maeng-Eon
    • Journal of the Mineralogical Society of Korea
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    • v.19 no.4 s.50
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    • pp.277-289
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    • 2006
  • This study was carried out to find a new material having high removal efficiency for the harmful red tide. C. polykrikoides grow very fast and accumulate into dense and visible patches near the surface of the seawater ('Water bloom'). Some mineral medicines and Hwangto (reddish soil consist of clay minerals and Fe-oxides) were used in this study to remove C. polykrikoides. The pre-determined sprinkling ratio of mineral vs. seawater which contains approximately 5,000 cells/mL of C. polykrikoides was 10 g/L. In order to quantify the removal efficiency, the density of living cells was measured by counting with the Intervals of 0, 10, 30, and 60 minutes after sprinkling. Five Hwangtos feom different localities were examined in this study. It is found that a material with a high concentration of Fe and Al was the most effective to remove C. polykrikoides. After the sprinkling of the Hwangto showing the best removal efficiency in the test, 99% of total algaes were found to be eliminated within 60 minutes. Jeokeokji showed the highest removal efficiency among clay mineral medicines(92% removal efficiency after 60 minutes), and the rests in decreasing order are as follows: Gamto (91%) > Baekseokji (89%) > Hydromica (81%). In addition, Fe-oxide mineral medicine similarly looking as fine-grained earthy Daejaseok showed 100% removal efficiencyafter 30 minutes, and Wooyoeryang, 95% after 60 minutes. It is noted that even little addition (1 g/L) of Daejaseok, 10% of Hwangto concentration into seawater showed the removal efficiency of 100% after 60 minutes. From the results, it could be concluded that the fine-grained earthy Daejaseok was the most effective natural mineral medicine to remove the C. polykrikoides from seawater. Under the microscope the removal mechanism was found to be activated in the following order: adsorption, swelling of chain colony, chain colony crisis and algaecide.

Biochemical Characterization of Phospholipase C$\delta$from liver of Mud loach (Misgurnus mizolepis) (미꾸라지 간으로부터 포스포리파아제 C델타 단백질의 생화학적 특성)

  • Seo, Jung-Soo;Lim, Sang-Uk;Kim, Na-Young;Lee, Sang-Hwan;Oh, Hyun-Suk;Lee, Hyung-Ho;Chung, Joon-Ki
    • Journal of fish pathology
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    • v.18 no.1
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    • pp.67-80
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    • 2005
  • Phosphoinositide-specific phospholipase $C\delta$ $PLC\delta$) plays an important role in many cellular responses and is involved in the production of second messenger. The present study was conducted to obtain the biochemical characteristics of the expressed recombinant $PLC\delta$ in E. coli cloned from Misgurnus mizolepis and partially purified $PLC\delta$ enzymes from liver tissues of M. mizolepis (wild ML-$PLC\delta$). The ML $PLC\delta$ gene was cloned and expressed under the previous report (Kim et al., 2004), and purified the recombinant protein by successive chromatography using $Ni^{2+}$-NTA affinity column and gel iltration FPLC column. The wild ML-$PLC\delta$ protein was solublized with 2 M KCI and purified by successive chromatography on open heparin-Sephagel and analytical TSKgel heparin-5PW. Both the recombinant and wild ML-$PLC\delta$ form of protein showed a concentration-dependent PLC activity to phosphatidylinositol 4,5-bis-phosphate (PIP$_2$) or phosphatidylinositol (PI). Its activity was absolutely $Ca^{2+}$- dependant, which was similar to mammalian $PLC\delta$ isozymes. Maximal PI-hydrolytic activations of recombinant and wild ML- TEX>$PLC\delta$ was at pH 7.0 and pH 7.5, respectively. In addition, the enzymatic activities of recombinant and wild ML-$PLC\delta$ were increased in concentration-dependent manner by detergent, such as sodium deoxycholate SDC), phosphatidylethanolamine (PE) and phosphatidylcholine (PC). The activities decreased in contrast by a polyamine, such as spermine. Western blotting showed that several types of $PLC\delta$ isozymes exist in various organs. Taken together our results, it suggested that the biochemical characteristics of ML-$PLC\delta$ are similar with those of mammalian $PLC\delta1$ and ${\delta}3$ isozymes.

Optimization Test of Plant-Mineral Composites to Control Nuisance Phytoplankton Aggregates in Eutrophic Reservoir (부영양 저수지의 조류제거를 위한 기능성 천연물질혼합제의 최적화 연구)

  • Lee, Ju-Hwan;Kim, Baik-Ho;Moon, Byeong-Cheon;Hwang, Soon-Jin
    • Korean Journal of Ecology and Environment
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    • v.44 no.1
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    • pp.31-41
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    • 2011
  • To optimize the natural chemical agents against nuisance phytoplankton, we examined algal removal activity (ABA) of Plant-Mineral Composite (PMC), which already developed by our teams (Kim et al., 2010), on various conditions. The PMC are consisted of extracted-mixtures with indigenous plants (Camellia sinensis, Quercusacutissima and Castanea crenata) and minerals (Loess, Quartz porphyry, and natural zeolite), and characterized by coagulation and floating of low-density suspended solids. A simple extraction process was adopted, such as drying and grinding of raw material, water-extraction by high temperature-sonication and filtering. All tests were performed in 3 L plastic chambers varying conditions; six different concentrations ($0{\sim}1.0\;mL\;L^{-1}$), six light intensities ($8{\sim}1,400\;{\mu}mol\;m^{-2}s^{-1}$), three temperatures ($10{\sim}30^{\circ}C$), four pHs (7~10), five water depths (10~50 cm), and three different waters dominated by cyanobacteria, diatom, and green algae, respectively. Results indicate that the highest ABA of PMC was seen at $0.05\;mL\;L^{-1}$ in treatment concentrations, where showed a reduction of more than 80% of control phytoplankton biomass, while $1,400\;{\mu}mol\;m^{-2}s^{-1}$ in light intensity (>90%), $20{\sim}30^{\circ}C$ temperature (>60%), 7~9 in pH (>90%), below 50 cm in water depth (>90%), and cyanobacterial dominating waters (>80%), respectively. Over the test, ABA of PMC were more obvious on the algal biomass (chlorophyll-${\alpha}$) than suspended solids, suggesting a selectivity of PMC to particle size or natures. These results suggest that PMC agents can play an important role as natural agents to remove the nuisant algal aggregates or seston of eutrophic lake, where occur cyanobacterial bloom in a shallow shore of lake during warm season.

Agroclimatology of North Korea for Paddy Rice Cultivation: Preliminary Results from a Simulation Experiment (생육모의에 의한 북한지방 시ㆍ군별 벼 재배기후 예비분석)

  • Yun Jin-Il;Lee Kwang-Hoe
    • Korean Journal of Agricultural and Forest Meteorology
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    • v.2 no.2
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    • pp.47-61
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    • 2000
  • Agroclimatic zoning was done for paddy rice culture in North Korea based on a simulation experiment. Daily weather data for the experiment were generated by 3 steps consisting of spatial interpolation based on topoclimatological relationships, zonal summarization of grid cell values, and conversion of monthly climate data to daily weather data. Regression models for monthly climatological temperature estimation were derived from a statistical procedure using monthly averages of 51 standard weather stations in South and North Korea (1981-1994) and their spatial variables such as latitude, altitude, distance from the coast, sloping angle, and aspect-dependent field of view (openness). Selected models (0.4 to 1.6$^{\circ}C$ RMSE) were applied to the generation of monthly temperature surface over the entire North Korean territory on 1 km$\times$l km grid spacing. Monthly precipitation data were prepared by a procedure described in Yun (2000). Solar radiation data for 27 North Korean stations were reproduced by applying a relationship found in South Korea ([Solar Radiation, MJ m$^{-2}$ day$^{-1}$ ] =0.344 + 0.4756 [Extraterrestrial Solar Irradiance) + 0.0299 [Openness toward south, 0 - 255) - 1.307 [Cloud amount, 0 - 10) - 0.01 [Relative humidity, %), $r^2$=0.92, RMSE = 0.95 ). Monthly solar irradiance data of 27 points calculated from the reproduced data set were converted to 1 km$\times$1 km grid data by inverse distance weighted interpolation. The grid cell values of monthly temperature, solar radiation, and precipitation were summed up to represent corresponding county, which will serve as a land unit for the growth simulation. Finally, we randomly generated daily maximum and minimum temperature, solar irradiance and precipitation data for 30 years from the monthly climatic data for each county based on a statistical method suggested by Pickering et a1. (1994). CERES-rice, a rice growth simulation model, was tuned to accommodate agronomic characteristics of major North Korean cultivars based on observed phenological and yield data at two sites in South Korea during 1995~1998. Daily weather data were fed into the model to simulate the crop status at 183 counties in North Korea for 30 years. Results were analyzed with respect to spatial and temporal variation in yield and maturity, and used to score the suitability of the county for paddy rice culture.

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