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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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Analysis of Telomere Length and Telomerase Activity of Tissues in Korean Native Chicken (한국 재래닭의 주령별 각 조직의 텔로미어 함량과 텔로머레이스 활성도 분석)

  • Jung G.S.;Cho E.J.;Choi D.S.;Lee M.J.;Park C.;Jeon I.S.;Sohn S.H.
    • Korean Journal of Poultry Science
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    • v.33 no.2
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    • pp.97-103
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    • 2006
  • Telomeres are essential for chromosome stability and are related with cell senescence, apoptosis and cancer. Even though telomere length and telomerase activity have been studied extensively, very little is known to analyze the telomere dynamics in chicken cells. This study was carried out to analyze the telomere distribution and telomerase activity of Korean Native Chicken cells along with aging. The cells were collected from brain, heart, liver, kidney and germinal tissues during physiological stages. Telomere distribution was analyzed by Quantitative-Fluorescence in situ Hybridization (Q-FISH) techniques using the chicken telomeric DNA probe. Telomerase activity was performed by Telomeric Repeat Amplification Protocol (TRAP) assay. In results, the telomeres of chicken were found at the ends of all chromosomes with the interstitial telomeres on chromosomes 1, 2 and 3. The amount of telomeres on chicken cells was decreased along with aging in most tissues. Furthermore, the telomere quantity was significantly different among tissues. The relative amount of telomeres in proliferous cells such as testis cells had much more than those of liver, brain, heart, blood and kidney cells. The telomerase activity was down-regulated in cells of brain, heart and liver tissues. Whereas gonadal cells showed a constitutive activity of telomerase during all stage of life. In conclusions, the telomere quantity and telomerase activity in chicken are closely relate to cell proliferation and tissue specificity during developmental stages and aging. There is also closely correlated between the amounts of telomeric DNA and telomerase activity in chicken tissues.

Mechanical Quality Evaluation of Rice Cultivars That Could Potentially be Used to Produce Processed Cooked Rice (주요 쌀 품종의 가공밥 이용을 위한 기계적 취반품질 평가)

  • Park, Hye-Young;Shin, Dong-Sun;Woo, Koan-Sik;Sim, Eun-Yeong;Kim, Hyun-Joo;Lee, Seuk-ki;Won, Yong-Jae;Lee, Sang-Bok;Oh, Sea-Kwan
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.61 no.3
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    • pp.145-152
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    • 2016
  • The objective of this study was to evaluate the mechanical quality of cultivars that could potentially be used to processed cooked rice. Proximate composition, amylose content, cooking quality, and the Toyo value, were higher in Jungsaenggold than in the other cultivars. The results showed that the crude protein contents of the rice cultivars were between 4.60 and 6.59%. The amylose content was the highest in the Haedam cultivar (21.36%), but was the lowest in the Jungsaenggold cultivar (17.11%). Cooking quality was the highest in the Haiami and Jungsaenggold cultivar. Texture analyzer test showed that Ilpum had the lowest hardness and highest stickiness. Significant differences in the palatability characteristics (Toyo results for glossiness quality) of the rice flour were recorded using a Toyo Meter Analyzer. Ilpum, Samkwang, Haiami and Jungsaenggold had low amylose contents and the highest Toyo values. Thus, the results of this study suggested that Jungsaenggold can be effectively used to produce processed cooked rice.

Productivity Affected by Various Disease Conditions in Bovine (소의 질병감염이 생산성에 미치는 영향)

  • 이성재;이후식;노수일;김길수;이주묵
    • Korean Journal of Veterinary Service
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    • v.17 no.3
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    • pp.227-246
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    • 1994
  • Present investigations were undertaken in order to clarify the clinical status of Korean native cattle and dairy cattle(holstein). Blood, Feces and urine samples were collected from 247 Korean native cattle(222 adult and 25 calf), 224 dairy cattle(211 adult and 13 calf) at Chonbuk area and analyzed for clinical, serum chemical, hematological and urinary findings. In addition, we were examined the infection rate of Theileriosis, internal patasite and ring worm. The mean value for each component was calculated by statistical analysis using Excel computer program. From these investigations the following results were obtained. The mean values for RBC, PCV and etc in 433 adult cow(Korean native cattle and dairy cattle) were similar with other reports. But the mean values for MCHC of all species were lower than normal. Adult Korean native cattle and adult dairy cattle which showed hematologically normal levels were only 9.01% and 9.48%, respectively. Ahnormally high values for PCV, RBC and Hb were recorded in 7.66% of adult Korean native cattle, 20% of Korean native calf, 15.38% of dairy calf. Adult Korean native cattle and adult dairy cattle which showed hematologically anemia were 4.95% and 19.43% respectively, but all in Korean native calf and dairy calf showed normal values. Adult Korean native cattle, adult dairy cattle, Korean native calf and dairy calf which showed normal serum protein level were 84.0%, 90.8%, 50% and 44.4%, respectively. In present investigations, 50% of Korean native calf and 55.6% of dairy calf were decreased serum protein values under normal range. These abnormally decreased serum protein values mean the shortage of antibody, and these have a possibility to occrus to pneumonia and diarrhea. From these results, the economical loss caused by pneumonia was calculated as 124, 038, 833 won in the KNC and 742, 703, 430 won in the dairy calf rearing in Chonbuk area. Calculated economical loss caused by enteritis was 56, 658, 690 won in Korean native cattle. 476, 775, 799 won in dairy calf and the total loss amount to 533, 434, 488 won in Chonbuk area. Abnormally high values($21.7{\pm}4.0mg/dl) for serum calcium were recorded 49.6% in dairy cattle. The mean values of serum total cholesterol were $170.8{\pm}99.8mg/dl in Korean native cattle, $196.0{\pm}40.6mg/dl$ in Korean native calf, $202.9{\pm}86.0mg/dl$ in adult dairy cattle and $289.4{\pm}97.5mg/dl$ in dairy calf. The infection rate of internal parasite were as follows; adult Korean native cattle:21.2%, Korean native calf:80%, adult dairy cattle:67.8%. The estimated economical loss caused by internal parasites infection were 1, 120, 855, 837 won in Korean native calf, 4, 994, 959, 405 won in adult Korean native cattle, 3, 334, 751, 066 won in adult holstein, and the total loss amount to 9, 450, 566, 308 won. The infection rate of theileriosis were 1.4% in Korean native cattle and 6.6% in dairy cattle. The presumed Economical loss by T. sergenti infection were 154, 408, 482 won in Korean native cattle and 171, 577, 237 won in dairy cattle rearing at Chonbuk area. The infection rat of ringworm were 0.5% in Korean native cattle, 0.9% in adult dairy cattle and 7.7% in dairy calf. The presumed economical loss by dermatomycophyte were 12, 061, 532 won in Korean native cattle, 16, 895, 403 won in dairy cattle, and the total estimated loss amount to 28, 955, 935 won a year in Chonbuk area. The infection rate of ringworm were 0. 5% in Korean native cattle, 0.9% in adult dairy cattle and 7.7% in dairy calf. The presumed economical loss by dermatomycophyte were 12, 061, 532 won in Korean native cattle, 16, 895, 403 won in dairy cattle, and the total estimated loss amount to 28, 955, 935 won a year in Chonbuk area.

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A Study on the Ship`s Collision Avoiding Action Analyzed from a Viewpoint of Ship Kinematics (선체운동학적으로 본 충돌회피동작에 관한 연구)

  • 김기윤
    • Journal of the Korean Society of Fisheries and Ocean Technology
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    • v.14 no.2
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    • pp.97-112
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    • 1978
  • The rule 15, 16 and 17 of International Regulations for Preventing collisions at Sea direct actions to avoid collision when two power-driven vessels are crossing. But these rules do not present the safety minimum approaching distances outside which a give- way vessel deeps out of the way of a stand-on vessel. In this paper, the author analyzed the ship's collision avoiding actions from a viewpoint of ship kinematics as the method to calculate this distance. The author worked out mathematic formulas for calculating the safety minimum approaching distances outside which the give-way vessel takes the actions to avoid collisions in accordance with the cross angles of the crossing vessels' courses. Figuring out actually the values of maneuvering indices of the M. S. Koan Ack San (GT: 224tons), the training ship of the National Fisheries University of Busan and the M. S. Golden Clover (GT: 101, 235tons) of the Eastern Shipping Co., Ltd. through their Z test, the author applied these values to the calculating formulas and calculated the safety minimum approaching distances. The results of calculations are as follows; 1. The greatest distance is to be kept by the give-way vessel to avoid collision when the cross angle of courses is 90$^{\circ}$ or near it. In such case the safety minimum approaching distance of a small vessel must be more than 5 times of her own length and that of a large vessel more than 11 times of her own length. 2. Collision danger is greater when crossing angle is obtuse than in an acute angle, therefore greater distance is to be kept by the give-way vessel to avoid collision in the case of the obtuse angle. 3. The actions to be taken to avoid collisions by the give-way vessel in Rule 16 and by the stand-on vessel in Rule 17(a)(ii) of International Regulations for Preventing Collisions at Sea, must be done outside the above safety minimum approaching distance. When inevitably such actions are to be taken within the safety minimum approaching distance, they should be accompanied with engine motions.

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Optimization of Compound K Production from Ginseng Extract by Enzymatic Bioconversion of Trichoderma reesei (Trichoderma reesei 유래 산업효소를 이용한 인삼추출물로부터 Compound K 생산 최적화)

  • Han, Gang;Lee, Nam-Keun;Lee, Yu-Ri;Jeong, Eun-Jeong;Jeong, Yong-Seob
    • The Korean Journal of Food And Nutrition
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    • v.25 no.3
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    • pp.570-578
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    • 2012
  • Compound K(ginsenoside M1) is one of saponin metabolites and has many benefits for human health. This study was to investigate Compound K produced from ginseng crude saponin extract with commercial cellulolytic complex enzyme(cellulase, ${\beta}$-glucanase, and hemicellulase) obtained from Trichoderma reesei. The effect factors(temperature, pH, ginseng crude saponin extract and enzyme concentration, and reaction time) on production of Compound K from ginseng crude saponin extract were determined by one factor at a time method. The selected major factor variables were ginseng crude saponin extract of 2%(w/v), enzyme of 7%(v/v), reaction time of 48 hr. Based on the effect factors, response surface method was proceeded to optimize the enzymatic bioconversion conditions for the desirable Compound K production under the fixed condition of pH 5.0 and $50^{\circ}C$. The optimal reaction condition from RSM was ginseng crude saponin extract of 2.38%, enzyme of 6.06%, and reaction time of 64.04 hr. The expected concentration of Compound K produced from that reaction was 840.77 mg/100 g. Production of Compound K was 1,017.93 mg/100 g and 862.31 mg/100 g, by flask and bench-scale bioreactor($2.5{\ell}$) system, respectively.

Present Conditions of Mental Health Care in Rural Areas: Community Mental Health Program of Public Health Center (농촌지역 정신보건관리실태: 보건소 지역사회정신보건사업)

  • Lee, Weon-Young;Kim, Dong-Moon
    • Journal of agricultural medicine and community health
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    • v.28 no.2
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    • pp.1-14
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    • 2003
  • Objectives: This paper introduces need and supply level of rural mental health care service and especially focuses on the evaluation for the community mental health programs of Public Health Centers(PHCs) in rural areas as the facilities for primary mental health care. Methods: We defined the need as prevalance rate and service utilization rate, for which reviewed the results of the epidemiological study of mental disorders using Korean Composite International Diagnostic Interview surveyed on a nationwide scale in 2001. Supply was appraised in terms of psychiatric beds and primary mental heath care facilities such as private psychiatric clinics, facilities for social rehabilitation, PHCs running community mental health programs. For this, we reveiwed a variety of annual reports related mental health published by Ministry of Health and Welfare. To evaluate the community mental health programs of PHCs in rural areas, we selected. randomly samples out of the 3rd community health plans including the contents of community mental health programs, which submitted by 89 rural counties and 44 cities mixed with rural areas, and used the program's guideline established by central government as a standard. Results: Prevalence rates of major psychiatric diseases such as schizophrenia, alcoholism, major depression, anxiety disorder were higher in rural area than in urban area and 8.9% of psychiatric patients in both areas stayed at homes contacted with mental health manpower more than one time during the last year. Psychiatric beds were sufficiently supplied, but urban area had less beds than rural area contrary to general health care service. Psychiatric clinics were supplied very insufficiently in rural areas and PHCs bridged the gap instead. However rural PHCs got less financial support for community mental health programs from higher positioned agencies than urban PHCs. Rural community health programs not supported hardly worked out. Conclusions: Central government should consider a special policy for rural primary mental health care, because private psychiatric clinics can't be introduced in rural areas due to demand-deficiency and the financial independence of rural counties was very vulnerable.

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A Case Study of the Implementation Mechanism of Home Economics Curriculum in South Korea and the U.S. (한국과 미국의 가정과 교육과정 실행 과정 사례 연구)

  • Kim, Eun Jeung;Kwon, Yoojin;Lee, Yoon-Jung
    • Journal of Korean Home Economics Education Association
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    • v.27 no.3
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    • pp.79-97
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    • 2015
  • Curriculum may be defined as everything students learn at school or the specific plan of a subject that students are supposed to learn. The purpose and goals of the curriculum or who is in charge of developing the curriculum may differ by country. This study aimed at comparing the mechanisms in which the Home Economics curriculum is implemented in Korea and the Unite States at different levels. Considering that Korean government now supports increased autonomy of schools, allowing them to execute curricula according to their educational environments, it is meaningful that the advantages and disadvantages of the implementation mechanisms of two countries are explored. Specifically, middle schools in a City of Kyung-gi Province in South Korea and three states(Wisconsin, Ohio, and Washington states) in the United States are examined. The curriculum documents at different levels as well as study plans used by actual teachers are compared for this purpose. In case of South Korea, the nation state is in charge of curriculum development and the curriculum document defines the educational contents to detail in order to provide standardized learning experience to students. This type of closely controlled system warrants standardized educational contents and thus allows nation-wide assessment using standardized measures. On the other hand, it is difficult to accommodate diversities among students in terms of aptitudes and learning styles, and also limits creativity enhancement or integrative approach to teaching and learning. In comparison, curriculum in the United States is rather loosely defined, and more autonomy is granted to schools and teachers. Each of these two different systems may have advantages and disadvantages of their own. The findings of this study is expected to provide implications to curriculum development as well as to the development of framework and guidelines to the curriculum implementation.

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Studies on Genetics and Breeding of Rainbow Trout(Oncorhynchus mykiss) II. Relationships between Levels of Serum LH, FSH and Estradiol-$17{\beta}$ ; and Levels of Albumin, Total Protein, and Triglycerides ; and their Effect on the Changes of Gonadosomatic Indices in the Ovarian Development in the Rainbow Trout (무지개송어의 유전 육종학적 연구 II. 무지개송어의 난소 발달에 영향을 미치는 혈청중 LH, FSH, Estradiol-$17{\beta}$ 수준과 Albumin, Total Protein, Triglycerides 함량과의 관계 및 성선지수 변화간의 상관관계)

  • Yoon Jong-Man;KIM Gye-Yoong;PARK Hong-Yang
    • Journal of Aquaculture
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    • v.4 no.2
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    • pp.97-110
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    • 1991
  • This study was undertaken to understand the seasonal changes of hormone levels such as luteinizing hormone (LH), follicle stimulating hormone (FSH) and estradiol-$17{\beta}$, serum components such as albumin, total protein and triglycerides, and GSI of rainbow trout (Onco-rhynchus mykiss) under the normal-light circumstances. LH levels were the highest in November whereas FSH levels were decreased progressively from October to February. Serum GTH, such as LH and FSH, levels were low immediately after egg-stripping and were significantly increased in the summer in association with the initiation of vitellogenesis. Serum albumin, total protein, and triglycerides were significantly increased in August in association with initiation of vitellogenesis and were peak in November prior to egg-stripping. Oocyte growth, measured by oocyte diameter and GSI, was significantly increased in August and showed the highest value in January. Correlation coefficients of serum LH with FSH and estradiol-$17{\beta}$ were +0.844 and +0.947, respectively. Correlation coefficients of estradiol-$17{\beta}$ with albumin and total protein were +0.634 and +0.859, respectively. Correlation coefficients of serum estradiol-$17{\beta}$ with triglycerides and GSI were +0.673 and +0.694, respectively. Probably by positive feedback mechanism, LH, FSH and estradiol-$17{\beta}$ appeared to stimulate to liver to secrete albumin, total protein and triglycerides for vitellosenesis.

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Diagnosis and Monitoring of Chronic Myeloid Leukemia: Chiang Mai University Experience

  • Tantiworawit, Adisak;Kongjarern, Supanat;Rattarittamrong, Ekarat;Lekawanvijit, Suree;Bumroongkit, Kanokkan;Boonma, Nonglak;Rattanathammethee, Thanawat;Hantrakool, Sasinee;Chai-Adisaksopha, Chatree;Norasetthada, Lalita
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.4
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    • pp.2159-2164
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    • 2016
  • Background: A diagnosis of chronic myeloid leukemia (CML) is made on discovery of the presence of a Philadelphia (Ph) chromosome. The success of the treatment of this form of leukemia with tyrosine kinase inhibitor (TKI) is monitored by reduction of the Ph chromosome. Objective: To compare the role of conventional cytogenetic (CC) methods with a real time quantitative polymerase chain reaction (RQ-PCR) and fluorescence in situ hybridization (FISH) for diagnosis and treatment monitoring of CML patients. The secondary outcome was to analyze the treatment responses to TKI in CML patients. Materials and Methods: This was a retrospective study of CML patients who attended the Hematology clinic at Chiang Mai University Hospital from 2005-2010. Medical records were reviewed for demographic data, risk score, treatment response and the results of CC methods, FISH and RQ-PCR. Results: One hundred and twenty three cases were included in the study, 57.7% of whom were male with a mean age of 46.9 years. Most of the patients registered as intermediate to high risk on the Sokal score. At diagnosis, 121 patients were tested using the CC method and 118 (95.9%) were identified as positive. Five patients failed to be diagnosed by CC methods but were positive for BCR-ABL1 using the FISH method. Imatinib was the first-line treatment used in 120 patients (97.6%). In most patients (108 out of 122, 88.5%), a complete cytogenetic response (CCyR) was achieved after TKI therapy and in 86 patients (70.5%) CCyR was achieved long term by the CC method. Five out of the 35 analyzed patients in which CCyR was achieved by the CC method had a positive FISH result. Out of the 76 patients in which CCyR was achieved, RQ-PCR classified patients to only CCyR in 17 patients (22.4%) with a deeper major molecular response (MMR) in 4 patients (5.3%) and complete molecular response (CMR) in 55 patients (72.4%). In the case of initial therapy, CCyR was achieved in 95 patients (79.1%) who received imatinib and in both patients who received dasatinib (100%). For the second line treatment, nilotinib were used in 30 patients and in 19 of them (63.3%) CCyR was achieved. In half of the 6 patients (50%) who received dasatinib as second line or third line treatment CCyR was also achieved. Conclusions: CML patients had a good response to TKI treatment. FISH could be useful for diagnosis in cases where CC analysis failed to detect the Ph chromosome. RQ-PCR was helpful in detecting any residual disease and determining the depth of the treatment response at levels greater than the CC methods.