• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.11 no.1
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• pp.3-15
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• 2000

Objectives：There has been a rapid expansion of studies aimed at elucidating the genetic basis of autistic disorder, especially it’ relationship to fragile-X syndrome. The detection of fragile X chromosome(Xq27.3) by cytogenetic analysis has revealed many difficulties in testing. Therefore, to explore the relationship between autistic disorder and fragile X syndrome, this study administered molecular biologic methods which examined an unstable CGG repeat within the fragile X mental retardation-1(FMR-1) gene. Methods：Ninety nine autistic children and eight normal control children were tested. The number of CGG repeats within FMR-1 gene was measured after amplification by PCR, and cytogenetic analysis was also carried out to detect fragile site Xq27.3. Southern blot hybridization, using StB12.3 and/or Pfxa3 probe, was done for the patients showing expansion of more than 50 CGG repeats (premutation). Results：All but two autistic patients had no expansion in CGG repeats by PCR and there was no significant statistical difference in number of CGG repeat in comparison with normal control. Two autistic patients, considered as premutation by PCR analysis, had no full mutation or premutation by Southern blot hybridization. All autistic children tested did not have any abnormal karyotype or fragile site Xq27.3. Conclusions：These results suggest that autistic patients may not have abnormality in FMR-1 gene or abnormal expansion in CGG repeat. In conclusion, fragile X syndrome may not be antecedent of autistic disorder.

• The korean journal of orthodontics
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• v.33 no.3 s.98
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• pp.185-197
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• 2003

This study was performed to identify the characteristics of the OFC1 gene (locus: chromosome 6p24.3) in Korean patients, which is assumed to be the major gene behind the nonsyndromic cleft lip and palate. The sample consisted of 80 subjects: 40 nonsyndromic cleft lip and palate patients (proband, 20 males and females, mean age 14.2 years); and 40 normal adults (20 males and 20 females, mean age 25.6 years). Using PCR-based assay, the OFC1 gene was amplified, sequenced, and then searched for similar protein structures. Results were as follows: 1. The OFC1 gene contains the microsatellite marker 'CA' repeats. The number of the reference 'CA' repeats was 21 times, and formed as TA(CA)11TA(CA)10. But, in Koreans, the number of tandem 'CA' repeats was varied from 17 to 26 except 18, and 'CA' repeats consisted of TA(CA)n. 2. Nine allelic variants were found. Distribution of the OFC1 allele was similar between the patients and control group. 3. There was a replacement of the base 'T' to 'C' after 11 tandem 'CA' repeats in Koreans compared with Weissenbach's report. However, the difference did not seem to be the ORF prediction results between Koreans and Weissenbach's report. 4. The BLAST search results showed the Telomerase reverse transcriptase (TERT) and the Nucleotide binding protein 2 (NBP2) as similar proteins. The TERT was a protein product by the hTERT gene in the locus 5p15.33 (NCBI Genome Annotation; NT023089) The NBP2 was a protein product by the ABCC3 (ATP-binding cassette, sub-family C) gene in the locus 17q22 (NCBI Genome Annotation; NT010783). 5. In the Pedant-Pro database analysis, the predictable protein structure of the OFC1 gene had at least one transmembrane region and one non-globular region.

• Journal of Animal Science and Technology
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• v.53 no.1
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• pp.1-6
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• 2011

This simulation study was performed to investigate the accuracy of the estimated breeding value by using genomic information (GEBV) by way of Bayesian framework. Genomic information by way of single nucleotide polymorphism (SNP) from a chromosome with length of 100cM were simulated with different marker distance (0.1cM, 0.5cM), heritabilities (0.1, 0.5) and half sibs families (20 heads, 4 heads). For generating the simulated population in which animals were inferred to genomic polymorphism, we assumed that the number of quantitative trait loci (QTL) were equal with the number of no effect markers. The positions of markers and QTLs were located with even and scatter distances, respectively. The accuracies of estimated breeding values by way of indicating correlations between true and estimated breeding values were compared on several cases of marker distances, heritabilities and family sizes. The accuracies of breeding values on animals only having genomic information were 0.87 and 0.81 in marker distances of 0.1cM and 0.5cM, respectively. These accuracies were shown to be influenced by heritabilities (0.87 at $h^2$ =0.10, 0.94 at $h^2$ =0.50). According to half sibs' family size, these accuracies were 0.87 and 0.84 in family size of 20 and 4, respectively. As half sibs family size is high, accuracy of breeding appeared high. Based on the results of this study it is concluded that the amount of marker information, heritability and family size would influence the accuracy of the estimated breeding values in genomic selection methodology for animal breeding.

• Journal of Intelligence and Information Systems
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• v.20 no.4
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• pp.121-139
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• 2014

Predicting corporate failure has been an important topic in accounting and finance. The costs associated with bankruptcy are high, so the accuracy of bankruptcy prediction is greatly important for financial institutions. Lots of researchers have dealt with the topic associated with bankruptcy prediction in the past three decades. The current research attempts to use ensemble models for improving the performance of bankruptcy prediction. Ensemble classification is to combine individually trained classifiers in order to gain more accurate prediction than individual models. Ensemble techniques are shown to be very useful for improving the generalization ability of the classifier. Bagging is the most commonly used methods for constructing ensemble classifiers. In bagging, the different training data subsets are randomly drawn with replacement from the original training dataset. Base classifiers are trained on the different bootstrap samples. Instance selection is to select critical instances while deleting and removing irrelevant and harmful instances from the original set. Instance selection and bagging are quite well known in data mining. However, few studies have dealt with the integration of instance selection and bagging. This study proposes an improved bagging ensemble based on instance selection using genetic algorithms (GA) for improving the performance of SVM. GA is an efficient optimization procedure based on the theory of natural selection and evolution. GA uses the idea of survival of the fittest by progressively accepting better solutions to the problems. GA searches by maintaining a population of solutions from which better solutions are created rather than making incremental changes to a single solution to the problem. The initial solution population is generated randomly and evolves into the next generation by genetic operators such as selection, crossover and mutation. The solutions coded by strings are evaluated by the fitness function. The proposed model consists of two phases: GA based Instance Selection and Instance based Bagging. In the first phase, GA is used to select optimal instance subset that is used as input data of bagging model. In this study, the chromosome is encoded as a form of binary string for the instance subset. In this phase, the population size was set to 100 while maximum number of generations was set to 150. We set the crossover rate and mutation rate to 0.7 and 0.1 respectively. We used the prediction accuracy of model as the fitness function of GA. SVM model is trained on training data set using the selected instance subset. The prediction accuracy of SVM model over test data set is used as fitness value in order to avoid overfitting. In the second phase, we used the optimal instance subset selected in the first phase as input data of bagging model. We used SVM model as base classifier for bagging ensemble. The majority voting scheme was used as a combining method in this study. This study applies the proposed model to the bankruptcy prediction problem using a real data set from Korean companies. The research data used in this study contains 1832 externally non-audited firms which filed for bankruptcy (916 cases) and non-bankruptcy (916 cases). Financial ratios categorized as stability, profitability, growth, activity and cash flow were investigated through literature review and basic statistical methods and we selected 8 financial ratios as the final input variables. We separated the whole data into three subsets as training, test and validation data set. In this study, we compared the proposed model with several comparative models including the simple individual SVM model, the simple bagging model and the instance selection based SVM model. The McNemar tests were used to examine whether the proposed model significantly outperforms the other models. The experimental results show that the proposed model outperforms the other models.

• Journal of Animal Science and Technology
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• v.54 no.5
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• pp.323-329
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• 2012

Genome-wide association study was performed on data from 266 Hanwoo steers derived from 66 sires using bovine 10K mapping chip in Hanwoo (Korean cattle). SNPs were excluded from the analysis if they failed in over 5% of the genotypes, had median GC scores below 0.6, had GC scores under 0.6 in less than 90% of the samples, deviated in heterozygosity more than 3 standard deviations from the other SNPs and were out of Hardy-Weinberg equilibrium for a cut-off p-value of $1^{-15}$. Unmapped and SNPs on sex chromosomes were also excluded. A total of 4,522 SNPs were included in the analysis. To test an association between SNP and QTL, a single marker regression analysis was implemented in this study. SNP was assumed to be in LD with QTL in close proximity and the effect evaluated was additive effect (QTL allele substitution effect). The number of significant SNP at a threshold of P<0.001 was 3, 5, 5 and 4 loci for live weight at 6, 12, 18 and 24 months, respectively. For live weight at different ages, significant SNP were spread out across chromosome but some of significant SNP (rs29012453 and rs29012456 on BTA24) had shown highly significant effects. As for the distribution of size of SNP effects, few loci for live weight at different age had moderate effects (6~11%) but most of significant loci had small effects (2 to 5% of additive genetic variance) against total additive genetic variance. In conclusion, live weight at different age might be affected by few loci with moderate effect and many loci with small effects across genome in Hanwoo.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.15
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• pp.6627-6632
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• 2015

Background: We conducted a study exploring the clinical safety and efficacy of decitabine in patients with acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), combined with a complex karyotype. Materials and Methods: From April 2009 to September 2013, a total of 35 patients with AML/MDS combined with a complex karyotype diagnosed in the First Affiliated Hospital of Soochow University were included for retrospective analysis. All patients were treated with decitabine alone ($20mg/m^2$ daily for 5 days) or combination AAG chemotherapy (Acla 20mg qod*4d, Ara-C $10mg/m^2$ q12h*7d, G-CSF $300{\mu}g$ qd, the dose of G-CSF adjusted to the amount in blood routinely). Results: In 35 patients, 15 exhibited a complete response (CR), and 6 a partial response (PR), the overall response rate (CR+PR) being 60% (21 of 35). Median disease-free survival was 18 months and overall survival was 14 months. In the 15 MDS patients with a complex karyotype, the CR rate was 53.3% (8 of 15); in 20 AML patients with complex karyotype, the overall response rate was 65% (13 of 20). The response rate of decitabine alone (22 cases) was 56.5% (13 of 22), while in the combination chemotherapy group (13 cases), the effective rate was 61.5% (8 of 13)(P>0.05). There are 15 patients with chromosome 7 aberration, after treatment with decitabine, 7 CR, 3 PR, overall response rate was 66.7% (10 of 15). Of 18 patients with 3 to 5 kinds of chromosomal abnormalities, 66.7% demonstrated a response; of 17 with more than 5 chromosomal abnormalities, 52.9% had a response. In the total of 35 patients, with one course (23 patients) and ${\geq}$two courses (12 patients), the overall response rate was 40.9% and 92.3% (P<0.05). Grade III to IV hematological toxicity was observed in 27 cases (75%). Grade III to IV infections were clinically documented in 7 (20%). Grades I to II non-hematological toxicity were infections (18 patients), haematuria (2 patients), and bleeding (3 patients). With follow-up until September 2013, 7 patients were surviving, 18 had died and 10 were lost to follow-up. In the 6 cases who underwent allogeneic hematopoietic stem cell transplantation (HSCT) all were still relapse-free survivors. Conclusions: Decitabine alone or combination with AAG can improve outcome of AML/MDS with a complex karyotype, there being no significant difference decitabine in inducing remission rates in patients with different karyotype. Increasing the number of courses can improve efficiency. This approach with fewer treatment side effects in patients with a better tolerance should be employed in order to create an improved subsequent chance for HSCT.

• Journal of Korean Society of Forest Science
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• v.17 no.1
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• pp.1-15
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• 1973

In an effort to improve the major tree species in Korea, the seed of Robinia pseudoacacia, Pinus rigida, Pinus densiflora, Pinus thunbergii and Larix leptolepis were treated with X-ray and thermal neutron at the Brookhaven National Laboratory, and germination rate of the seed and some characteristics of the seedlings from irradiated seed were investigated and the results were summarized as follows. 1. The germination rate of the irradiated seed of Robinia pseudoacacia, Pinus densiflora, Pinus thunbergii and Pinus rigida was decreased, when the irradiation time of thermal neutron increased from 3 hours to 9 hours. The seed of Larix leptolepis was completely died out in all range of irradiation time. 2. The seed of Pinus densiflora, Robinia pseudoacacia and Pinus rigida showed low germination rate, when the dosage of radiation increased in the range of 10,000r-30,000r X-ray. This dosage of radiation was almost lethal to the seed of Pinus thunbergii and Larix leptolepis. 3. The growth rate of radiated Robinia pseudoacacia has been decreased when the dosage of X-ray and thermal neutron increased. However, the trees treated with thermal neutron for 3 hours showed 14.9 percent-increase in seedling height and some thornless individuals appeared in this treatment. 4. Individuals with variegated leaf, rugose leaf and albino were appeared in X-ray and thermal neutron treatment. 5. Abnormal mitosis of somatic cell, cell with two nucleoli, cell with two nuclei and chromosome clump in mitosis of somatic cell were observed in Robinia pseudoacacia irradiated with thermal neutron. 6. Resistanty against pawdery mildew was decreased in Robinia pseudoacacia radiated with X-ray and thermal neutron. 7. Length of stomata did not show any difference however number of stomata per unit area decreased in Robinia pseudoacacia radiated with thermal neutron. The leaves of Robinia pseudoacacia radiated with thermal neutron were thicker than those of non-treated one, but width of palisade tissue was decreased. The most sensitive one among those species to the thermal neutron treatment was Larix leptolepis, followed by Pinus densiflora, Robinia pseudoacacia, Pinus thunbergii and Pinus rigida in the order. In X-ray treatment, the most sensitive one was Larix leptolepis, followed by Pinus densiflora, Pinus thunbergii, Pinus rigida and Robinia pseudoacacia in the order. Morphological, cytological variation of the radiated Robinia pseudoacacia seemed to indicate some possibility to be used for tree improvement.

• The Korean Journal of Nuclear Medicine
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• v.33 no.1
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• pp.94-99
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• 1999

Purpose: Radiation-induced chromosomal damage and apoptosis were compared in human lymphocytes. Materials and Methods: Peripheral lymphocytes from 10 normal volunteers (6 males, 4 females, age range $23{\sim}41$ years) were irradiated by gamma rays from a cell irradiator. Doses of irradiation were 0 (control), 0.18, 2, 5, 10, 20 and 25 Gy. Irradiated lymphocytes were examined by metaphase analysis for chromosomal aberrations and by flow cytometry for apoptosis. Results of both studies were compared according to dose. Results: Number of dicentric and ring chromosomes (D+R) was $0.5{\pm}0.53$ at baseline, which was significantly increased after radiation according to the dose. The fraction of cells showing annexin V-fluorescein isothiocyanate uptake was $0.51{\pm}$0.39%, which increased to $3.58{\pm}1.85%$ by 2 Gy irradiation, and then decreased. The fraction of cells showing propidium iodide (PI) uptake was $0.52{\pm}0.12%$, which significantly increased according to dose (upto $15.64{\pm}5.99%$ by 20 Gy irradiation). D+R and PI uptake were well correlated (r=0.84, p<0.001). Conclusion: Radiation-induced chromosomal aberration was correlated to nuclear uptake of PI, a marker of late apoptosis.

• Animal Systematics, Evolution and Diversity
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• v.9 no.2
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• pp.151-170
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• 1993

Morphometric, band-pattern and electrophoretic analysis on Cobitis taenia complex were performed to investigate the morphological and genetic differentiation and to clarify their taxonomic status. Intermediate types of band-pattern (C and D type) were more frequently expressed than that of types of C. t. taenia(type A) and C. t. lutheri (type B). Sexual dimorphism of band-pattern was observed not only in C. t. taenia(type A) and C. t. lutheri(type B). Sexual dimorphism of band-pattern was observed not only in C. t. lutheri but also in C. t. taenia and C. t. striata as well. Discriminant function analysis based on 19 morphological characters shows no significant differences among C. taenia complex. The degree of genic variation of C. t. striata was higher ( =1.48, P=31.2%, HD=0.009) than those of C. t. striata was higher( =1.48, P=31.2%, HD=0.082 and HG=0.009) than those of C. t. lutheri ( =1.37, P=2.7%, HD=0.058 and HG=0.065). The average genetic similarities between C. t. lutheri and C. t. taenia-C. t. striata were S=0.62 and S=0.66 respectively and these values indicate that C. t. tanenia has evolved specific level of differentiation. C. t. striata and C. t. lutheri show subspecifc level of close genetic similarity (S=0.82). Based on the divergent time estimate (Nei, 1975) it is assumed that C. t. tanenia was branched off from the other subspecies about two million years before present (MYBP) and C. t. striata and C. t. lutheri were differentiated about 0.6 MYBP. The use of C. sinesis an the scientific name for the Korean C. t. taenia, proposed by Kim and Lee (1988) seems incorrect since they are quite different in the structure of lamina circularis (Vladycov, 1935), the external morphology and distribution (Cheng and Zheng, 1987) and the chromosome number(Yu et al., 1989). Kim and Lee(1988) also argued that C.t. striata and C. t. lutheri should be treated as distinct species but the present study and other reports (Kim and Lee, 1984; Kim and Yang, 1993) do not support it. We conclude that C. t. taenia is a good species and C. t. striata and C. t. lutheri are subspecific status. Their scientific names should be revised in the future.

• Journal of Korean Society of Forest Science
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• v.32 no.1
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• pp.73-86
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• 1976

Two individuals ($sp_1$, $sp_2$) of purple and one individual ($sd_1$) of red hearted flower were selected from 18 years old Hibiscus syriacus trees obtained from the seeds treated with colchicine, and their morphological and physiological characteristics were investigated and following results were obtained. 1. The somatic chromosome number of the selected individuals, $sp_1$, $sp_2$, and $sd_1$ were 2n=160, while that of the check tree was 2n=80, indicating that the selected individuals, $sp_1$, $sp_2$ and $sd_1$ were tetraploid. 2. Peroxidase isoenzyme bands of high activity in selected individuals, $sp_1$, $sd_1$ and check tree were mostly in cathode, fixed band was f and v bands, and frequency of each band and their activity were not different between selected individuals, $sp_1$ and $sd_1$ and check tree. 3. The flowers of $sp_1$ individual were large in size and more dark purple than check tree's. The flowers of $sp_2$ individual were not increased in size, but they were dark purple and red heart at the base of the petal was expanded to 2/3 of the petal length. The flower of $sd_1$ individual was also large and some of the red lines from the petal base were extended to 2/3 of the petal length, which was much longer than those of the check tree. 4. Thickess of leaves, length of guard cells, diameter of pollens, wood fiber lengths and woody fiber widths were all increased in $sp_1$, $sp_2$ and $sd_1$ as compared to those of the check tree. 5. Survival percentage of cuttings was 80% with $sp_1$ and 36% with $sd_1$, and their growth performance were inferior to control in their second growing season.