• Journal of Life Science
• /
• v.18 no.6
• /
• pp.902-906
• /
• 2008

In this study, we analyzed the microsatellite DNA poly-morphisms for pedigree verification in Kyungju dog (Dongkyung-i) which is one of the Korean breed dogs. A total of 51 Dongkyung-i samples were genotyped using 8 microsatellite markers. The number of alleles observed at single locus ranged from 4 to 12, with average number of alleles per locus of 8.5. The expected heterozygosity and polymorphic information contents (PIC) values of the 8 microsatellite loci were $0.6162{\sim}0.8746$ (mean 0.7587) and $0.5461{\sim}0.8512$ (mean 0.7167), respectively. Of the 8 markers, PEZ3, PEZ6, PEZ12 and FHC2054 loci had relatively high PIC values (>0.7) in Dongkyung-i. Pedigree verification of Dongkyung-i was analyzed based on alleles observed. The results of the parentage testing were noted significant differences compared with breeders. These results show basic information of conservation and research in Dongkyung-i, and further studies of genetic pedigree in Dongkyung-i will be needed.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.12 no.2
• /
• pp.104-107
• /
• 2012

Alpha-methylacetoacetic aciduria is a rare inborn metabolic disorder, caused by acetyl-CoA acetyltransferase-1 deficiency. This enzyme acts on the last step of isoleucine metabolism. It dissociates 2-Methyl-3-Hydroxybutyryl-CoA into propionyl-CoA and acetyl-CoA. ACAT1 is the causative gene. Most patients manifest recurrent ketotic metabolic acidosis, but some patients can be identified in their presymptomatic period by newborn screening. Urinary organic acid profile is characterized by increased amounts of 2-Methyl-3-Hydroxybutyric acid, tiglylglycine, and 2-methyl acetoacetic acid. In this report, a Korean patient with alpha-methylacetoacetic aciduria is described. This is the first Korean case report confirmed by genetic testing.

• Korean Journal of Veterinary Service
• /
• v.34 no.3
• /
• pp.195-200
• /
• 2011

Swine influenza is an acute respiratory disease prevalent in pig-growing areas all around the world and plays the roles of an intermediate host to be transmitted to mammals including human beings through a genetic recombination with the avian influenza virus. Recognizing that people could be contracted with swine influenza, this study set out to investigate the seroprevalence of individual and multiple infections with two subtypes (H1N1 and H3N2) of the swine influenza virus in pig farms in the Gyeongnam region according to age, area, and season, as well as to provide basic data for the prevention and control of swine influenza. Used in the study were total 904 swine sera that were not vaccinated against the influenza gathered from the pig farms in the Gyeongnam region from November, 2009 to October, 2010. HerdChek SIV (H1N1, H3N2) ELISA kit (IDEXX Laboratories, USA) was used for antibody testing against swine influenza. The test results show that 370 sera (40.9%) were infected with either H1N1 or H3N2 with 37.3% (337 sera) being contracted with H1N1, 13.1% (118 sera) with H3N2, and 9.4% (85) with both H1N1 and H3N2.

• The Transactions of the Korea Information Processing Society
• /
• v.6 no.7
• /
• pp.1841-1848
• /
• 1999

DELVAUX is a genetics-based inductive learning system that learns a rule-set, which consists of Bayesian classification rules, from sets of examples for classification tasks. One problem that DELVAUX faces in the rule-set learning process is that, occasionally, the learning process ends with a local optimum without finding the best rule-set. Another problem is that, occasionally, the learning process ends with a rule-set that performs well for the training examples but not for the unknown testing examples. This paper describes efforts to alleviate these two problems centering on the N-version learning approach, in which multiple rule-sets are learning and a classification system is constructed with those learned rule-sets to improve the overall performance of a classification system. For the implementation of the N-version learning approach, we propose a decision-making scheme that can draw a decision using multiple rule-sets and a genetic algorithm approach to find a good combination of rule-sets from a set of learned rule-sets. We also present empirical results that evaluate the effect of the N-version learning approach in the DELVAUX learning environment.

• Journal of Genetic Medicine
• /
• v.11 no.2
• /
• pp.69-73
• /
• 2014

Purpose: Spinocerebellar ataxia (SCA) is a genetically heterogeneous disease for which more than 30 subtypes have been identified. However, 5 subtypes, SCA1, SCA2, SCA3, SCA6, and SCA7, account for more than 60% of cases. In this study, we report the distribution of these 5 subtypes in Korean patients. Materials and Methods: Six hundred and thirty-eight unrelated patients with a presumptive diagnosis of SCA were included in this study. Trinucleotide (CAG) repeat number (TNR) repeat number was determined using fluorescently labeled primers and fragment analysis. Results: A total of 128 unrelated patients (20.1% of all individuals tested) tested positive for SCA subtypes, including SCA1 (5 patients, 3.9% of those testing positive), SCA2 (38 patients, 29.7%), SCA3 (30 patients, 23.4%), SCA6 (39 patients, 30.5%), and SCA7 (16 patients, 12.5%). The mean copy number of pathogenic TNR alleles was $45{\pm}8.5$ for SCA1, $42{\pm}3.1$ for SCA2, $72{\pm}5.4$ for SCA3, $23{\pm}1.5$ for SCA6, and $50{\pm}11.4$ for SCA7. TNR copy number was inversely correlated with onset age in SCA2, SCA6, and SCA7. Conclusion: SCA2, SCA3, and SCA6 are common SCA subtypes in Korean patients and could be screened as a first-line test. Expanded pathogenic allele size was associated with early onset age.

• Journal of Genetic Medicine
• /
• v.14 no.1
• /
• pp.1-7
• /
• 2017

Purpose: The aim of this study was to assess the diagnostic efficacy of noninvasive prenatal screening for trisomy 18 by assessing the levels of unmethylated-maspin (U-maspin) and fetal nuchal translucency (NT) thickness during the first trimester of pregnancy. Materials and Methods: A nested case-control study was conducted using maternal plasma samples collected from 65 pregnant women carrying 11 fetuses with trisomy 18 and 54 normal fetuses. We compared the U-maspin levels, NT thicknesses, or a combination of both in the first trimester between the case and control groups. Results: U-maspin levels and NT thickness were significantly elevated in the first trimester in pregnant women carrying fetuses with trisomy 18 when compared to those carrying normal fetuses (27.2 vs. 6.6 copies/mL, P<0.001 for U-maspin; 5.9 vs. 2.0 mm, P<0.001 for NT). The sensitivities of the U-maspin levels and NT thickness in prenatal screening for fetal trisomy 18 were 90.9% and 90.9%, respectively, with a specificity of 98.1%. The combined U-maspin levels and NT thickness had a sensitivity of 100% in prenatal screening for fetal trisomy 18, with a specificity of 98.1%. Conclusion: A combination of U-maspin levels and NT thickness is highly efficacious for noninvasive prenatal screening of fetal trisomy 18 in the first trimester of pregnancy.

• Korean Journal of Soil Science and Fertilizer
• /
• v.48 no.5
• /
• pp.464-468
• /
• 2015

Our government has performed to support the nation-wide application of customized fertilizer based on soil-testing results and crop nutrient balance in order to promote the environment-friendly agriculture and to respond the global environment guide-line since 2010. This study was performed at the selected local paddy fields (Hwaseong-si, Uiseong-gun and Miryang-si) with different soil chemical properties in 2012. The contents of amino acids measured showed an increasing trend with fertilization, and glutamic acid was the most abundant amino acid followed by aspartic acid, leucine and alanine. However, valine, isoleusine, tyrosine and lysine were not significantly affected by fertilization. The significant differences in grain N, expressed as a crude protein, and amino acids dose was observed between experimental sites (p<0.001), treatments (p<0.01 to 0.001) and interaction of both factors (p<0.01 to 0.001). In our experiment the following order of carbon skeleton backbones to produce amino acids was observed irrespective of experiment sites and fertilization: ${\alpha}$-ketoglutarate > oxalate > pyruvate > 3-phosphoglycerate > phosphoenolpyruvate. In conclusion, customized fertilizer had no difference in amino acids compared to the conventional-NPK practice which was higher than in no fertilization, and also the normal paddy represented slightly higher amino acids compared to the reclaimed. Further study based on the present results is required to investigate what is main factor to amino acids between genetic and environmental factors.

• Clinical and Experimental Pediatrics
• /
• v.62 no.2
• /
• pp.55-61
• /
• 2019

Purpose: Myotonic dystrophy, also known as dystrophia myotonica (DM), is an autosomal dominant disorder with 2 genetically distinct forms. DM type 1 (DM1) is the more common form and is caused by abnormal expansion of cytosine/thymine/guanine (CTG) repeats in the DM protein kinase (DMPK ) gene. Our study aimed to determine whether the age of onset is correlated with CTG repeat length in a population of pediatric patients with DM1. Methods: We retrospectively identified 30 pediatric patients with DM1 that underwent DMPK testing, of which the clinical data of 17 was sufficient. The cohort was divided into 2 subgroups based on the clinical phenotype (congenital-onset vs. late-onset) and number of CTG repeats (<1,000 vs. ${\geq}1,000$). Results: We found no significant difference between the age of onset and CTG repeat length in our pediatric patient population. Based on clinical subgrouping, we found that the congenital-onset subgroup was statistically different with respect to several variables, including prematurity, rate of admission to neonatal intensive care unit, need for respiratory support at birth, hypotonia, dysphagia, ventilator dependence, and functional status on last visit, compared to the late-onset subgroup. Based on genetic subgrouping, we found a single variable (poor feeding in neonate) that was significantly different in the large CTG subgroup than that in the small CTG subgroup. Conclusion: Clinical variables exhibiting statistically significant differences between the subgroups should be focused on prognosis and designing tailored management approaches for the patients; our findings will contribute to achieve this important goal for treating patients with DM1.

• Asian Journal for Public Opinion Research
• /
• v.7 no.2
• /
• pp.75-93
• /
• 2019

Background: Since 2010, Korea has maintained a DNA database of those convicted of or awaiting trial for certain crimes. There have been proposals to expand the list of crimes included in this database, or conversely, omit certain crimes if they are committed during protests. An understanding of the feelings of the public as we consider the ethical, legal, and social aspects of a DNA database and as revisions to laws are made is required. Methodology: Questions related to the DNA database were included in the nationally representative Korean Academic Multimode Open Survey (KAMOS) panel (June-August 2016). Results: Of 2,000 randomly selected panel members, 1,013 respondents participated in this survey, including 89.2% who supported the existence of a criminal DNA database. The current system of storing DNA profiles until a suspect's acquittal or a convict's death was supported by 79.5% of respondents. In addition, 70.8% of respondents agreed with the expansion of crime categories included in the criminal database. Many (93.4%) respondents favored genetic testing and data storage to determine the identity and cause of death for people who die of unnatural causes. Some differences in attitude related to social class were noted, with those who self-identified as members of the upper class more likely to support the database and its expansion to include additional crimes than those who self-identified as middle or lower class. Conclusion: Our findings suggest that Koreans generally support the criminal DNA database.

• Journal of Microbiology and Biotechnology
• /
• v.30 no.12
• /
• pp.1862-1869
• /
• 2020

The spread of plasmid-mediated colistin resistance has posed a serious threat to public health owing to its effects on the emergence of pandrug-resistant bacteria. In this study, we investigated the prevalence and characteristics of mcr-1-positive Escherichia coli isolated from retail meat samples in Korea. In total, 1,205 E. coli strains were isolated from 3,234 retail meat samples in Korea. All E. coli strains were subjected to antimicrobial susceptibility testing and were examined for the presence of mcr-1 gene. All mcr-1-positive E. coli (n = 10, 0.8%) from retail meat were subjected to pulse-field gel electrophoresis (PFGE) and whole-genome sequencing (WGS). The transferability of mcr-1 gene was determined by conjugation assays. The mcr-1-positive strains exhibited diverse clonal types. Our mcr-1 genes were located in plasmids belonged to the IncI2 (n = 1) and IncX4 (n = 8) types, which were reported to be prevalent in Asia and worldwide, respectively. Most mcr-1 genes from mcr-1-positive strains (9/10) were transferable to the recipient strain and the transfer frequencies ranged from 2.4 × 10-3 to 9.8 × 10-6. Our data suggest that the specific types of plasmid may play an important role in spreading plasmid-mediated colistin resistance in Korea. Furthermore, our findings suggest that the retail meat may be an important tool for disseminating plasmid-mediated colistin resistance.