• Korean Journal of Audiology
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• v.23 no.1
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• pp.20-26
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• 2019

Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001). Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.

• Journal of Environmental Health Sciences
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• v.50 no.2
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• pp.93-101
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• 2024

Background: As pollutants caused by non-point sources flow into rivers, river water quality monitoring for fecal pollution is becoming increasingly important. Objectives: This study was conducted to investigate the distribution of microbial communities in the Yeongsangang River water system and sewage treatment plants in Gwangju and to evaluate their antibiotic resistance. Methods: In the experiment, samples were distributed to five selective media at each point and then cultured for 18 to 24 hours. When bacteria were observed, they were sub-cultured by size and shape and identified using MALDI-TOF MS equipment. When identification was completed, 17 types of antibiotic susceptibility tests were performed using VITEK II equipment, focusing on gram-negative dominant species among the identified strains. Results: During the study period, a total of 266 strains were isolated from 39 samples. Gram-positive bacteria were 37 strains in four genera, or 13.9% of the total, and Gram-negative bacteria were 229 strains in 23 genera, or 86.1% of the total. Antibiotic susceptibility testing of 23 strains, the major dominant species, showed that one strain (4.3%) was resistant to only one antibiotic, and two strains (8.7%) were 100% susceptible to the 17 antibiotics tested. The other 20 strains (87.0%) were multidrug resistant bacteria resistant to two or more antibiotics. There were various types of multidrug resistance. Among them, penicillin and cephalosporin series showed the highest resistance. Conclusions: Based on the results of this study, it was found that the bacterial community structure changed according to regional and environmental factors, and it was judged that continuous research such as genetic analysis of antibiotic-resistant bacteria present in natural rivers is necessary.

• Korean Journal of Clinical Laboratory Science
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• v.39 no.2
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• pp.113-121
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• 2007

Hearing loss is a common congenital disorder that is frequently associated with mutations in the Cx26 gene (GJB2). Recently, the mutation analysis of GJB2 has been used in a newborn screening test for the detection of hearing impairment. Population-based studies should be performed before the application of genetic testing for the identification of deaf newborns. In this study, 8 positions of GJB2 mutations-including 35delG, 167delT, 235delC, V27I, V37I, M34T, E114G, and I203T-were analyzed using PCR-direct sequencing in a total of 437 healthy Korean neonates. DNAs from dried blood spots were extracted using a commercial DNA extraction kit. The PCR-amplified products (783 bps) of the GJB2 gene were detected using 2% agarose gel electrophoresis and subjected to direct sequencing. The sequences were compared with those in the GenBank database by using the BLAST program. In this study, 5 GJB2 mutations -including V27I (79G>A), V37I (109G>A), E114G (341A>G), I203T (608T>C), and 235delC- were found. Of the 437 neonate samples, 301 subjects showed GJB2 mutations (68.9%, 301/437). The V27I mutation was found in 271 subjects and was the most frequent (62.0%, 271/437). The E114G, I203T and V37I mutations were shown in 146, 17 and 14 subjects, respectively. The 235delC mutation was found in 1 subject. The E114G mutation was frequently accompanied by the V27I mutation. V27I/E114G (97.2%, 143/147) was the most common double mutation and 3 subjects had the double mutation V27I/I203T. A triple mutation, V27I/E114G/I203T, was found in 1 subject. In conclusion, PCR-direct sequencing is a convenient tool for the rapid detection of GJB2 mutations and this data might provide information for the genetic counseling of the GJB2 gene.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.99-106
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• 2018

Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.24 no.1
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• pp.26-36
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• 2024

Lesch-Nyhan syndrome (LNS) is an Clinical symptoms can range from mild to severe depending on residual enzyme activity and genetic mutations. In Korea, 27 cases of LNS have been reported. We report the results of an 11-year comparative follow-up of two cases of children who visited because of pink diapers, one who died from LNS with no residual enzymes and one case with partial residual enzymes. Case 1: During follow-up, seizures, developmental delay, and regression were observed. The boy experienced insomnia and severe constipation. He exhibited self-mutilating behavior, a grand mal seizure, scoliosis with severe spasticity, truncal hypotonia, choreoathetoid movement, and ataxia. After prolonged emaciation, staghorn calculi, and recurrent pneumonia, the patient died suddenly at the age of 11 years. Genetic testing revealed a hemizygous HPRT1 variant (c.151C>T (p.Arg51Ter)). Uric acid level was 10.5 mg/dL (normal range: ~3.5-7.9) and HPRT activity 0.02 nmol/hr/spot (10-23.8 nmol/hr/spot). Case 2: During follow-up, the patient remained underweight. He has normal intelligence attending primary school. Self-mutilation symptoms were not observed. Regular renal ultrasonography did not reveal urolithiasis. The patient had a hemizygous HPRT1 variant (c.35A>C (p.Asp12Ala)). Uric acid level and HPRT activity were 11 mg/dL and 0.56 nmol/hr/spot. Pink diapers after the neonatal period and severe protein aversion, neurological problems, and kidney stones, differentiation for LNS is necessary. When suspected, serum uric acid levels, HPRT enzyme activity, and molecular biological tests may be helpful in predicting the prognosis of LNS.

• Korean Journal of Agricultural Science
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• v.2 no.2
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• pp.357-373
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• 1975

This study was conducted to evaluate the winter active polycross progenies of 10 genotypes selected at the hot and dry climate of the Southern Oregon in their performance in the progeny test comparing with a high yielding variety, 'Fawn', and a winter active variety, 'TFM', as the control varieties at Daejon, Korea. Various plant and leaf characteristics, especially which related to photosynthesis, and forage production during the first summer after their establishment, were examined. The important conclusions of this study are summarized as follows: 1. The winter active genotypes and variety had less leaf fresh weight and dry weight per leaf than variety 'Fawn'. Variations among polycross progenies of genotypes for these characteristics were great. 2. The winter active genotypes and variety had less leaf area per leaf than variety 'Fawn'. Leaf area among polycross progenies of genotypes deviated greatly and poly cross progenies of 'genotype-16' had the same average leaf area as 'Fawn'. 3. Differences of specific leaf weight (S. L. W.) in the winter active genotypes and variety were not significant. Probably the genetic diversity for S. L. W were not big and were narrowed down already in this genetic population. It was suggested that the photosynthate production within the population might not be different and there might be differences in the photosynthate production-translocation balance. Further study for the diurnal change in S. L. W. within the population might be useful. 4. The winter active variety and genotypes had less leaf width than 'Fawn' does. Leaf width among polycross progenies of genotypes deviated significantly. 5. Differences among controls and polycross progeny group in the initial plant height were significant and variety 'Fawn' was taller than the winter active genotypes and variety. But the differences were not significant in the regrowth of plant height after the first forage harvest. On the contrary. the differences among polycross progenies of genotypes were not significant in the initial plant but the differences in their polycross progeny performance became obvious and great in the regrowth ability which is an improtent agronomic characteristics for forage crops produced in the pasture and for hay and silage. 6. Plant width of the winter active genotypes and variety was lesser than 'Fawn' variety. 7. Differences of tiller number became evident and variety 'Fawn' had higher tiller number than the winter active genotypes and variety after the first forage cutting. There, deviations among polycross progenies of genotypes were great for this characteristic. It was obvious that the genetic differences became more evident in the second measurement after the first cutting of forage probably because this characteristic were stimulated by defoliation in the cartain genotypes and variety. 8. The winter active genotypes and variety on the initial growth. the regrowth ability andtotal yield had lesser forage yield than variety 'Fawn'. Deviation of forage yield among polycross progenies of genotypes were great and gave basis for selection according to their polycross progeny performance improving the forage yield of these winter active tall fescue population during summer. 9. It was concluded that the winter active variety and genotypes in this study was poorer than variety 'Fawn' for the most of leaf and plant characteristics including forage yield. For these measurements, the variations among polycross progenies of genotypes were great. and plant breeding might able to improve further this winter active tall fescue through the polycross progeny testing method for the higher forage production during summer in Korea. 10. The result of the associations among various characteristics under study were quite agreeable with the results of the analysis of variance and woul be useful in the selection of desirable genotypes for the development of a new variety.

• Journal of Intelligence and Information Systems
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• v.25 no.2
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• pp.123-139
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• 2019

The Korean NPL market was formed by the government and foreign capital shortly after the 1997 IMF crisis. However, this market is short-lived, as the bad debt has started to increase after the global financial crisis in 2009 due to the real economic recession. NPL has become a major investment in the market in recent years when the domestic capital market's investment capital began to enter the NPL market in earnest. Although the domestic NPL market has received considerable attention due to the overheating of the NPL market in recent years, research on the NPL market has been abrupt since the history of capital market investment in the domestic NPL market is short. In addition, decision-making through more scientific and systematic analysis is required due to the decline in profitability and the price fluctuation due to the fluctuation of the real estate business. In this study, we propose a prediction model that can determine the achievement of the benchmark yield by using the NPL market related data in accordance with the market demand. In order to build the model, we used Korean NPL data from December 2013 to December 2017 for about 4 years. The total number of things data was 2291. As independent variables, only the variables related to the dependent variable were selected for the 11 variables that indicate the characteristics of the real estate. In order to select the variables, one to one t-test and logistic regression stepwise and decision tree were performed. Seven independent variables (purchase year, SPC (Special Purpose Company), municipality, appraisal value, purchase cost, OPB (Outstanding Principle Balance), HP (Holding Period)). The dependent variable is a bivariate variable that indicates whether the benchmark rate is reached. This is because the accuracy of the model predicting the binomial variables is higher than the model predicting the continuous variables, and the accuracy of these models is directly related to the effectiveness of the model. In addition, in the case of a special purpose company, whether or not to purchase the property is the main concern. Therefore, whether or not to achieve a certain level of return is enough to make a decision. For the dependent variable, we constructed and compared the predictive model by calculating the dependent variable by adjusting the numerical value to ascertain whether 12%, which is the standard rate of return used in the industry, is a meaningful reference value. As a result, it was found that the hit ratio average of the predictive model constructed using the dependent variable calculated by the 12% standard rate of return was the best at 64.60%. In order to propose an optimal prediction model based on the determined dependent variables and 7 independent variables, we construct a prediction model by applying the five methodologies of discriminant analysis, logistic regression analysis, decision tree, artificial neural network, and genetic algorithm linear model we tried to compare them. To do this, 10 sets of training data and testing data were extracted using 10 fold validation method. After building the model using this data, the hit ratio of each set was averaged and the performance was compared. As a result, the hit ratio average of prediction models constructed by using discriminant analysis, logistic regression model, decision tree, artificial neural network, and genetic algorithm linear model were 64.40%, 65.12%, 63.54%, 67.40%, and 60.51%, respectively. It was confirmed that the model using the artificial neural network is the best. Through this study, it is proved that it is effective to utilize 7 independent variables and artificial neural network prediction model in the future NPL market. The proposed model predicts that the 12% return of new things will be achieved beforehand, which will help the special purpose companies make investment decisions. Furthermore, we anticipate that the NPL market will be liquidated as the transaction proceeds at an appropriate price.

• Research in Plant Disease
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• v.18 no.4
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• pp.317-323
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• 2012

The study aims to identify the pathogenicity of Phytophthora. capsici isolates in major pepper-producing areas in Korea and the inherit genetic pattern of phytophthora blight resistance by inocula. With five kinds of testing materials including 'Kataguma (Sakata Korea)' peppers, a disease-susceptible material, '#308', a phytophthora blight resistance material, 'CM334', and their $F_1$ and $F_2$, respective isolates of P. capsici obtained from Icheon, Eumseong, Buan, Imsil and Yeongyang regions together with six kinds of peppers' inoculum including PA-159 (KACC No.40482) received from Korean Agricultural Culture Collection were used for inoculation. The disease-susceptible material '#308', the resistant material 'CM334' and the non-segregating generation of $F_1$ represented 4.94-5.00, 1.00-1.07, and 1.01-1.08 phytophthora blight incidence respectively in the group comparison by isolate. This result means that the phytophthora blight resistance was clearly distinguished among testing materials in the group comparison by P. capsici isolate. Moreover, $F_2$ segregating generation showed 1.79-2.31 phytophthora blight incidence which turned out to be identical in the group comparison by the six isolates of P. capsici isolate and with similarity between both the resistant and susceptible materials. Thus, the result proved that using the six isolates of P. capsici tested as inocula was suitable to investigate the phytophthora blight resistance. When it comes to group comparison of $F_2$ segregation generation, however, isolates were divided with PA-159 isolate being the center: a group consisting of isolates from Icheon, Buan, and Imsil and a group consisting of Yeongyang and Eumseong isolates with higher pathogenicity. The expected segregation ratio of the phytophthora blight resistance in $F_2$ generation by isolate was analyzed. PA-159 isolate showed 3:1 or 9:3:3:1, indicating that one to two genes were involved. On the other hand, results also proved that there is an interaction of genes since both Eumseong and Yeongyang isolates showed a segregation ratio of 11:5 while the Icheon isolate represented 12:3:1.

• Journal of Korean Society of Forest Science
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• v.14 no.1
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• pp.1-20
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• 1972

The trend and achievements of forest genetics research in abroad were investigated through observation tours and reference work and following facts were found to be important aspects which should be adopted in the forest genetics research program in Korea. Because of world wide recognization on the urgency of taking a measure to reserve some areas of the representative forest type on the globe before the extingtion of such forest type as the results of continuous exploitations of the natural forests to meet the timber demand all over the world, it is urgently needed to take a measure to reserve certain areas of natural stand of Pinus koraiensis, Pinus parviflora, Pinus densiflora f. erectra, Abies koreana, Quercus sp., Populus sp., etc. as gene pool to be used for the future program of forest tree improvement. And the genetic studies of those natural forest of economic tree species are also to be performed. 1. Increase of the number of selected tree for breeding purpose. Because of the fact that the number of plus tree at present is too small to carry out selection program for tree improvement, particularly for the formation of source population for recurrent selection of parent trees of the 2nd generation seed orchard it is to be strongly emphasized to increase the number of plus tree by alleviating selection criteria in order to enlarge the population size of plus trees to make the selection program more efficient. 2. Progeny testing More stress should be placed on carrying out progeny testing of selected trees with open pollinated seeds. And particular efforts are to be made for conducting studies on adult/juvenile correlation of important traits with a view to enable to predict adult performances with some traits revealed in juvenile age thus to save time for progeny testing. 3. Genotype-environment interaction Studies on genotype and environment interaction should be conducted in order to elucidate whether the plus trees selected on the good site express their superiority on the poor site or not and how the environment affect the genotype. And the justification of present classification of seed distribution area should be examined. 4. Seed orchard of broad leaf tree species. Due to the difficulty of accurate comparison of growth rate of neighbouring trees of broad leaf tree species in natural stand, it is recommended that for the improvement of broad leaf trees a seedling seed orchard is to be made by roguing the progeny test plantation planted densely with control pollinated seedlings of selected trees. 5. Breeding for insect resistant varieties. In the light of the fact that the resistant characteristics against insect such as pine gall midge (Thiecodiplosis japonensis U. et I.) and pine bark beetle (Myelophilus pinipera L.) are highly correlated with the amount and quality of resin which are known as gene controlled characteristics, breeding for insect resistance should be carried out. 6. Breeding for timber properties. With the tree species for pulp wood in particular, emphasis should be placed upon breeding for high specific gravity of timber. 7. Introduction of Cryptomeria and Japanese Cypress In the light of the fact that the major clones of Cryptomeria are originated from Yoshino source and are being planted up to considerably north and high elevation in Japan, those species should be examined on their cold resistance in Korea by planting them in further northern part of the country.

• Journal of Animal Science and Technology
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• v.45 no.2
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• pp.183-190
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• 2003

Data from live animal real time ultrasound (RTU) measures from 127 Hanwoo steers were used to assess nutritional physiology and relationship between RTU measures and real carcass measures represented meat quality. Traits considered were longissimus muscle area, fat thickness, and marbling score imaged and scanned using RTU by month and those of carcass measures at about 24 month of age. On this study, increasing pattern for longissimus muscle area would be closely related to growth pattern (p<0.01) and it of fat thickness would be related to quadratic effect of ages. Marbling score would be related to aging, that is, individual deviates of scores were distinctly characterized after 17 mo. even though they were started at about 11 mo. Correlation estimates between RTU measures and corresponding carcass traits were over 0.6 after 17 month of age for all traits considered and these estimates were high as 0.90 after 22 month of age. From this study, Real-time ultrasound measurement would be valuable after 15-17 mo. and measures at about 22 mo. would be helpful to decide age for slaughtering. To utilize these techniques for beef cattle breeding via progeny testing program, 15 mo. RTU measures would be efficiency rather than 12 mo. of other beef breeds. Further study to find genetic variation of RTU measures was needed to utilize these technologies for beef breeding.