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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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The Usefulness of Rapid Triple Test for Cardiac Marker in Forensic Paragnosis of Sudden Cardiac Death (심장표지물질 간이검사의 급성심장사 법의학적 사후진단 유용성에 관한 연구)

  • Lim, Chae-Won;Kim, Jin-Gak
    • Korean Journal of Clinical Laboratory Science
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    • v.49 no.2
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    • pp.108-113
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    • 2017
  • A sudden cardiac death (SCD) is defined as an unnatural sudden death caused by heart disease. To determine the cause of death, observation of the microscopic change in cardiac muscle tissue is suggested, rather than visual postmortem examination. However, this suggestion is time consuming to be applied in the field, is cost-ineffective, and is inconvenient. Therefore, the purpose of this study is to understand whether temporary inspection used to examine the cardiac marker (Myoglobin, CK-MB, cTn I) in postmortem blood via rapid cardiac triple test kit (which is used by clinics to diagnose patients with acute myocardial infarction) can effectively be utilized for the paragnosis of sudden, unnatural cardiac death. The results of postmortem examination and temporary investigation found that 23 groups (76.7%), among the 30 experimental groups, were assumed to be non-traumatic sudden cardiac deaths, which indicated a positive response (according to comparison with forensic autopsy); 4 groups, among the 10 control groups, were assumed to be cerebrovascular disease, which indicated a negative response; 1 group was assumed to be alcoholic and drug poisoning, indicating a positive response; and 1 group was assumed to be oxygen deficiency due to suffocation, indicating a positive response. Hence, it was found that the level of sensitivity and specificity of cardiac marker's temporary inspection showed significant result, 76.7% and 80% respectively. Given this, temporary inspection can be effectively used for the paragnosis of sudden cardiac death when the medical history, situation of the site, and postmortem interval are considered together. With the result of precedent research on time of first revelation and extinction in blood, and difference in concentration over time progress according to the characteristic of cardiac marker's (myoglobin, CK-MB, cTn I) individual material, further research on concentration of cardiac marker per each post time needs to be conducted in order to estimate time science death (which is required to identify the cause of death and investigation).

Effect of Yearly Application of Straw and Nitrogen, Phosphate and Potassium Fertilizer on the Growth and Yield in Rice (생고(生藁) 및 삼요소(三要素)의 연속시용(連續施用)이 수도(水稻)의 생육(生育) 및 수량(收量)에 미치는 영향(影響))

  • Lee, Eun-Woong;Kwon, Y.W.
    • Applied Biological Chemistry
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    • v.8
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    • pp.51-59
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    • 1967
  • A split plot was laid out in 1965 for perennial application of straw by 500kg per 10 are, as main plot, and of chemical fertilizer in conventional way, as sub-plots. The sub-plot included the following 5 fertilizer treatments as (1) non-fertilized, (2) nitrogen-free, (3) phosphate-free (4) potassium-free, (5) completely fertilizer applied plots. Trends in the growth and yield of rice was observed at present experimental site in the first year, 1965, and second year, 1966, as follows: 1. Each treatmental plot showed nearly identical trends between the first and second year, in term of growth, yield and yield components. 2. Straw application deterred the initial growth at non-fertilized and nitrogen-free plots. But straw application raised the effective stem ratio and enlarged the values in yield components, finally to be resulted in the second year with significant difference. 3. Both phosphate and potassium did not much affected to plants for longer stem and larger number of tillers. 4. Effect of nitrogen, phosphate and potassium was recorded as investigated by previous research works. Phospate deficiency decreased maturing rate to a great extent. 5. Numerical index was calculated for the comparison of plots in yield, where the non-straw, completely fertilizer applied plot stands for 100. The indexes of the first and second year were as follows : at non-straw plot(indexes in the blank are from the first year trial); non-fertilized : 80.2(80.9), nitrogen-free: 83.6(89.4), phosphate-free : 89.4(93.1) and potassium-free plot: 93.5(102.4) at non-straw plot. On the other hand, indexes at straw applied plots were non-fertilized : 84.0(86.6), nitrogen-free 82.6(93.9), phosphate-free : 91.7(96.3), potassium-free: 103.2(102.0) and complete plot: 98.7(109.8).

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Modeling and mapping fuel moisture content using equilibrium moisture content computed from weather data of the automatic mountain meteorology observation system (AMOS) (산악기상자료와 목재평형함수율에 기반한 산림연료습도 추정식 개발)

  • Lee, HoonTaek;WON, Myoung-Soo;YOON, Suk-Hee;JANG, Keun-Chang
    • Journal of the Korean Association of Geographic Information Studies
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    • v.22 no.3
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    • pp.21-36
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    • 2019
  • Dead fuel moisture content is a key variable in fire danger rating as it affects fire ignition and behavior. This study evaluates simple regression models estimating the moisture content of standardized 10-h fuel stick (10-h FMC) at three sites with different characteristics(urban and outside/inside the forest). Equilibrium moisture content (EMC) was used as an independent variable, and in-situ measured 10-h FMC was used as a dependent variable and validation data. 10-h FMC spatial distribution maps were created for dates with the most frequent fire occurrence during 2013-2018. Also, 10-h FMC values of the dates were analyzed to investigate under which 10-h FMC condition forest fire is likely to occur. As the results, fitted equations could explain considerable part of the variance in 10-h FMC (62~78%). Compared to the validation data, the models performed well with R2 ranged from 0.53 to 0.68, root mean squared error (RMSE) ranged from 2.52% to 3.43%, and bias ranged from -0.41% to 1.10%. When the 10-h FMC model fitted for one site was applied to the other sites, $R^2$ was maintained as the same while RMSE and bias increased up to 5.13% and 3.68%, respectively. The major deficiency of the 10-h FMC model was that it poorly caught the difference in the drying process after rainfall between 10-h FMC and EMC. From the analysis of 10-h FMC during the dates fire occurred, more than 70% of the fires occurred under a 10-h FMC condition of less than 10.5%. Overall, the present study suggested a simple model estimating 10-h FMC with acceptable performance. Applying the 10-h FMC model to the automatic mountain weather observation system was successfully tested to produce a national-scale 10-h FMC spatial distribution map. This data will be fundamental information for forest fire research, and will support the policy maker.

Bloom-forming Cyanobacteria in Yongdam Lake (1) Nutrient limitation in a Laboratory Strain of a Nitrogen-fixing Cyanobacterium, Anabaena spiroides v. crassa (용담호 녹조현상의 원인 남세균 연구 (1) 질소고정 남세균 Anabaena spiroides v. crassa 종주와 영양염 제한)

  • Park, Jong-Woo;Kim, Young-Geel;Heo, Woo-Myung;Kim, Bom-Chul;Yih, Won-Ho
    • The Sea:JOURNAL OF THE KOREAN SOCIETY OF OCEANOGRAPHY
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    • v.11 no.4
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    • pp.158-164
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    • 2006
  • Yongdam Lake is the fifth largest artificial lake in Korea newly formed by the first impounding the Yongdam Multi-purpose Dam on December, 2002. Yongdam Lake, with her total water storage of 820 million M/T, is located at the roof-top region of the streams flowing into the just-constructed new Saemankeum Lake. Seasonal succession of phytoplakton in Yongdam Lake might affect cyanobacterial blooms in Saemankeum Lake by inoculating seasonal dominants. During 2002-2003 when the first impounding after the construction of Yongdam Multi-purpose Dam was still undergoing, summer cyanobacterial blooms by Anabaena, Microcystis, and Aphanizomenon were observed. Among these three, filamentous Anabaena is well known to have its species with $N_2-fixing$ ability and special cells such as heterocysts and akinetes as well as the vegetative cells. We established a clonal culture of Anabaena spiroides v. crasse (KNU-YD0310) from the live water samples collected at the bloom site of Yongdam Lake. The N- and P-nutrient requirement of the KNU-YD0310 was explored by the experimental cultivation of the laboratory strain. Ratio of heterocysts to vegetative cells increased as N-deficiency extended with its maximum at $N_2-fixing$ condition. The strain KNU-YD0310 exhibited considerable growth under N-limiting conditions while its growth was proportional to the initial phosphate-P concentration under P-deficient conditions. Under P-limiting conditions akinete density increased, which could be interpreted as an adaptation strategy to survive severe environment by transforming into resting stage. The above eco-physiological characteristics of Anabaena spiroides v. crassa might be useful as an ecological criterion in controlling cyanobacterial blooms at Shaemankeum Lake in near future.

The Reserch on Actual Condition of Crime of Arson Which Occurs in Korea and Its Countermeasures (방화범죄의 실태와 그 대책 - 관심도와 동기의 다양화에 대한 대응 -)

  • Choi, Jong-Tae
    • Korean Security Journal
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    • no.1
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    • pp.371-408
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    • 1997
  • This article is the reserch on actual condition of crime of arson which occurs in Korea and its countermeasures. The the presented problem in this article are that (1) we have generally very low rate concern about the crime of arson contrary to realistic problems of rapid increase of crime of arson (2) as such criminal motives became so diverse as to the economic or criminal purpose unlike characteristic and mental deficiency of old days, and to countermeasure these problems effectively it presentation the necessity of systemantic research. Based on analysis of reality of arson, the tendency of this arson in Korea in the ratio of increase is said to be higher than those in violence crime or general fire rate. and further its rate is far more greater than those of the U.S.A. and Japan. Arson is considered to be a method of using fire as crime and in case of presently residence to be the abject, it is a public offense crime which aqccompany fatality in human life. This is the well It now fact to all of us. And further in order to presentation to the crime of arson, strictness of criminal law (criminal law No, 164 and 169, and fire protection law No. 110 and 111) and classification of arsonist as felony are institutionary reinforced to punish with certainty of possibility, Therefore, as tendency of arson has been increased compared to other nations, it is necessary to supplement strategical policy to bring out overall concerns of the seriousness of risk and damage of arson, which have been resulted from the lack of understanding. In characteristics analysis of crime of arson, (1) It is now reveald that, in the past such crime rate appeared far more within the boundary of town or city areas in the past, presently increased rate of arsons in rural areas are far more than in the town or small city areas, thereby showing characteristics of crime of arson extending nation wide. (2) general timetable of arson shows that night more than day time rate, and reveald that is trait behavior in secrecy.(3) arsonists are usually arrested at site or by victim or report of third person(82,9%).Investigation activities or self surrenders rate only 11.2%. The time span of arrest is normally the same day of arson and at times it takes more than one year to arrest. This reveals its necessity to prepare for long period of time for arrest, (4) age rate of arson is in their thirties mostly as compared to homicide, robbery and adultery, and considerable numbers of arsons are in old age of over fifties. It reveals age rate is increased (5) Over half of the arsonists are below the junior high school (6) the rate of convicts by thier records is based on first offenders primarily and secondly more than 4 time convicts. This apparently shows necessity of effective correctional education policy for their social assimilation together with re-investigation of human education at the primary and secondary education system in thier life. The examples of motivation for arosnits, such as personal animosity, fury, monetary swindle, luscious purpose and other aims of destroying of proof, and other social resistance, violence including ways of threatening, beside the motives of individual defects, are diverse and arsonic suicide and specifically suicidal accompany together keenly manifested. When we take this fact with the criminal theory, it really reveals arsons of crime are increasing and its casualities are serious and a point as a way of suicide is the anomie theory of Durkheim and comensurate with the theory of that of Merton, Specifically in the arson of industrial complex, it is revealed that one with revolutionary motive or revolting motive would do the arsonic act. For the policy of prevention of arsons, professional research work in organizational cooperation for preventive activities is conducted in municipal or city wise functions in the name of Parson Taskforces and beside a variety of research institutes in federal government have been operating effectively to countermeasure in many fields of research. Franch and Sweden beside the U.S. set up a overall operation of fire prevention research funtions and have obtained very successful result. Japan also put their research likewise for countermeasure. In this research as a way of preventive fire policy, first, it is necessary to accomodate the legal preventitive activities for fire prevention in judicial side and as an administrative side, (1) precise statistic management of crime of arson (2) establishment of professional research functions or a corporate (3) improvement of system for cooperative structural team for investigation of fires and menpower organization of professional members. Secondly, social mentality in individual prospect, recognition of fires by arson and youth education of such effect, educational program for development and practical promotion. Thirdly, in view of environmental side, the ways of actual performance by programming with the establishment of cooperative advancement in local social function elements with administrative office, habitants, school facilities and newspapers measures (2) establishment of personal protection where weak menpowers are displayed in special fire prevention measures. These measures are presented for prevention of crime of arson. The control of crime and prevention shall be prepared as a means of self defence by the principle of self responsibility Specifically arsonists usually aims at the comparatively weak control of fire prevention is prevalent and it is therefore necessary to prepare individual facilities with their spontaneous management of fire prevention instead of public municipal funtures of local geverment. As Clifford L. Karchmer asserted instead of concerns about who would commit arson, what portion of area would be the target of the arson. It is effective to minister spontaveously the fire prevention measure in his facility with the consideration of characteristics of arson. On the other hand, it is necessary for the concerned personnel of local goverment and groups to distribute to the local society in timely manner for new information about the fire prevention, thus contribute to effective result of fire prevention result. In consideration of these factors, it is inevitable to never let coincide with the phemonemon of arsons in similar or mimic features as recognized that these could prevail just an epedemic as a strong imitational attitude. In processing of policy to encounter these problems, it is necessary to place priority of city policy to enhancement of overall concerns toward the definitive essense of crime of arson.

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