• Title/Summary/Keyword: Genetic relation

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Clinical Findings and Gene Analysis of BH4 Responsive PKU Patients in Korea (BH4 responsive PKU 환자들의 임상적 특성과 유전자분석)

  • Rhee, Minhee;Kim, Jiwon;Lee, Jeongho;Lee, Dong Hwan
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.13 no.2
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    • pp.104-110
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    • 2013
  • Purpose: Phenylketonuria (PKU) is the first inherited metabolic disease of which treatment is known. We performed this study to find out clinical symptoms and prognosis of tetrahydrobiopterin (BH4) responsive PKU patients and genetic relation. Methods: Clinical, biochemical, genetic analysis were done retrospectively in 23 patients diagnosed BH4 responsive PKU in Soonchunhyang University Hospital from March 2000 to September 2012. Results: Patients were classified to mild hyperphenylalaninemia and mild phenylketonuria with initial plasma phenylalanine level below 20 mg/dL. After BH4 loading, blood phenylalanine decrease level ranged between 37% and 99%. Initial treatment with low phenylalanine formula or BH4 was started before 2 month after birth except 2 patients. And one of them resulted in developmental delay in language and social activity. The others showed satisfactory progress without developmental delay. In genetic analysis, of 46 allele, R241C allele mutation was identified most commonly (41%). R241C/A259T, R241C/R243Q, R241C/V388M, R241C/T278I was detected in 5 (21.7%), 3 (13%), 2 (8%), 2 (8%) patients, respectively. Conclusion: R241C mutation was detected most frequently in this study group and R243Q mutation which is known to be prevalent in Korean PKU patients was found in 4 patients (8.6%). Early diagnosis and treatment is important in PKU patients.

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Estimation of genetic parameters using real-time ultrasound measurements in Hanwoo (한우 암소의 생체 초음파 성적을 이용한 유전모수 추정)

  • Lee, Ji-Hong;Yeo, Jung-Sou
    • Journal of the Korean Data and Information Science Society
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    • v.22 no.6
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    • pp.1145-1152
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    • 2011
  • This study was conducted to estimate genetic effects on economically important traits for genetic improvement in Hanwoo by using the real-time ultrasound measurements for longissimus dorsi muscle area (LMA), backfat thickness (BFT), and marbling score (Marb). The phenotypic data were obtained from 1,648 pedigreed cows, and general linear models were applied to test the effects of age, region, and body condition socre. The cows between 50 and 60 months of age had the greatest scores for LMA and BFT, and Marb (P<0.05). The cows in region C had the greatest scores for body condition socre, LMA and BFT, while in region J Marb was the lowest (P<0.05). There was positive relation with LMA, BFT, and Marb according to increase body condition socre. Heritabilities for LMA, BFT, and Marb were estimated as 0.136, 0.351, and 0.236, respectively. These results would provide primary information for the efficient implementation of genetic improvement schemes in Hanwoo.

Effects of Maternal Genetic Potential and Parity with Pre- and Postpartum on Body Weights, Body Condition Score and Blood Metabolites in Hanwoo Cows (한우 암소의 유전능력과 산차에 따른 분만 전?후 체중, Body Condition Score 및 혈중 대사물질의 변화)

  • 권응기;조영무;최연호;박병기;정학재;최낙진;안병석;김종복
    • Journal of Animal Science and Technology
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    • v.48 no.6
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    • pp.881-888
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    • 2006
  • This study was conducted to investigate effects of maternal genetic potential and parity with pre- and postpartum periods on body weights, body condition score (BCS) and blood metabolites in relation to physiological stress and nutritional metabolism in Hanwoo cows. Also, this study was designed to develop effective husbandry technique for Hanwoo cows concerning of pre- and postpartum periods, and to get basic data for it. Forty five cows were allocated into two groups, 24 cows with high maternal genetic potentials and 21 cows with low maternal genetic potentials. The average parity of experimental cows with high and low maternal genetic potentials were 2.83±1.63 and 3.00±1.77, respectively. The growth performances such as body weights, average daily gain (ADG) and BCS were not different between two groups regardless of maternal genetic potential. However, pre- and postpartum periods had effects on the growth performances (p<0.05). Parity had no effects on ADG and BCS (p>0.05), but effect on body weight of cows (p<0.05). The metabolites of physiological stress such as neutrophil, hematocrit and cortisol, and nutritional metabolites such as albumin, blood urea nitrogen (BUN), triglyceride, and non-esterified fatty acid (NEFA) concentrations in blood of cows were affected by pre- and postpartum periods in a large scale, while those were partially affected by maternal genetic potential. However, among the metabolites in blood, only neutrophil and triglylceride concentrations were affected by different parity of cows. Therefore, the present study suggests that nutritional intake and digestion are affected by physiological stress due to the parturition, and it should need to consider different husbandry technique based on the maternal genetic potential, and pre- and postpartum periods of cows.

Morphology and Histochemistry of the Skin of the Mud Loach, Misgurnus mizolepis, in Relation to Cutaeneous Respiration

  • Park, Jong-Young;Kim, Ik-Soo;Kim, So-Young
    • Animal cells and systems
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    • v.5 no.4
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    • pp.303-308
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    • 2001
  • The skin structure of Misgurnus mizolepis was studied based on the microanatomical investigation of skin fragments taken from four regions. The epidermis was distinguished by two types of skin glands, a small mucous cell and a large club cell. The mucous cell was acid sulfomucins (some sialomucins) but the club cell did not give any histochemical tests for mucosubstances. The presence of a well defined lymphatic system with small lymphocytes was established in the stratum germinativum layer of the epidermis. A large number of blood capillaries run very close to each other just below the basement membrane, and a definite area giving AB and PAS positive was present between the basement membrane and scale. These structural features of skin in M. mizolepis seem to be closely related with cutaneous respiration.

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IMM Method Using GA-Based Intelligent Input Estimation for Maneuvering target Tracking (기동표적 추적을 위한 유전 알고리즘 기반 지능형 입력추정을 이용한 상호작용 다중모델 기법)

  • 이범직;주영훈;박진배
    • Proceedings of the Korean Institute of Intelligent Systems Conference
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    • 2003.09b
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    • pp.99-102
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    • 2003
  • A new interacting multiple model (IMM) method using genetic algorithm (GA)-based intelligent input estimation(IIE) is proposed to track a maneuvering target. In the proposed method, the acceleration level for each sub-model is determined by IIE-the estimation of the unknown acceleration input by a fuzzy system using the relation between maneuvering filter residual and non-maneuvering one. The GA is utilized to optimize a fuzzy system fur a sub-model within a fixed range of acceleration input. Then, multiple models are composed of these fuzzy systems, which are optimized for different ranges of acceleration input. In computer simulation for an incoming ballistic missile, the tracking performance of the proposed method is compared with those of the input estimation(IE) technique and the adaptive interacting multiple model (AIMM) method.

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Current Advancement of Oral Cancer Research and its Clinical Implications (구강암의 연구동향 및 임상적 의의)

  • Kwon, Tae-Geon;Kim, Chin-Soo
    • The Journal of the Korean dental association
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    • v.48 no.8
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    • pp.576-586
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    • 2010
  • Recent advancement in molocular biology enhanced further understanding of the carcinogenesis of oral cancer and its relation with various genetic backgrounds. Familial risk factors includes similar habits of the family and polymorphic variations of the genes. Recently, human papilloma virus has been suggested to be linked with oral cancer progression. Enhancement of understanding of the damage or alteration in molecular pathway in various cellular response of oral cancer progression would lead the targeted therapy or precise early diagnosis of the oral cancer.

DISCRIMINANT ANALYSIS OF LOGICAL RELATIONS

  • Osawa, Mitsuru
    • Proceedings of the Korean Society for Emotion and Sensibility Conference
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    • 2000.04a
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    • pp.157-162
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    • 2000
  • Discriminant analysis is a method to relate whether the objects have a specific characteristic or not with their 'continuous' attribute values and, for given objects, to estimate whether they have a specific characteristic or not by their values of discriminant scores gotten from their attribute values. The author developed the new 'computational' method of discriminant analysis without specific hypotheses or assumptions and, by this new method, we can find 'feasible' solutions under the conditions required by our actual problems. In this paper, the author tried to apply this new method to the discrimination of logical relations. If this trial could be a success, we can apply this new method of discriminant analysis to the problems about relating the specific characteristic of the objects with their 'discrete' attribute values. The result was successful and the applicability of discriminant analysis could be expanded as a method for constructing the models for "estimating impressions".

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Optimum design of geometrically non-linear steel frames with semi-rigid connections using a harmony search algorithm

  • Degertekin, S.O.;Hayalioglu, M.S.;Gorgun, H.
    • Steel and Composite Structures
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    • v.9 no.6
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    • pp.535-555
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    • 2009
  • The harmony search method based optimum design algorithm is presented for geometrically non-linear semi-rigid steel frames. Harmony search method is recently developed metaheuristic algorithm which simulates the process of producing a musical performance. The optimum design algorithm aims at obtaining minimum weight steel frames by selecting from standard set of steel sections such as European wide flange beams (HE sections). Strength constraints of Turkish Building Code for Steel Structures (TS648) specification and displacement constraints were used in the optimum design formulation. The optimum design algorithm takes into account both the geometric non-linearity of the frame members and the semi-rigid behaviour of the beam-to-column connections. The Frye-Morris polynomial model is used to calculate the moment-rotation relation of beam-to-column connections. The robustness of harmony search algorithm, in comparison with genetic algorithms, is verified with two benchmark examples. The comparisons revealed that the harmony search algorithm yielded not only minimum weight steel frames but also required less computational effort for the presented examples.

Research history of Nannophya Rambur(Odonata: Libellulidae): A recently discovered species in addition to Nannophya koreana Bae in Korea

  • Kim, Dong Gun
    • Korean Journal of Environmental Biology
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    • v.38 no.2
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    • pp.308-314
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    • 2020
  • The Nannophya species in Korea was thought to consist of only Nannophya pygmaea. Previous studies on the species, including life history and development, conservation and restoration, habitat characteristics, genetic studies, distribution, behavior, and taxonomy have been conducted. However, a new Nannophya species, Nannophya koreana, was recently discovered in Korea. Moreover, this new species was found to inhabit both Korea and Japan. Thus, the previous studies should be reevaluated in relation to the new species, Nannophya koreana, and the latter should be treated as an endangered species worldwide given the current population instability.