• Title/Summary/Keyword: Variants

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Genetic analysis of canine parvovirus vaccine strains in Korea

  • Yang, Dong-Kun;Kim, Byoung-Han;Kim, Yeon-Hee;Lee, Kyung-Woo;Choi, Sung-Suk;Son, Seong-Wan
    • Korean Journal of Veterinary Research
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    • v.49 no.3
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    • pp.243-248
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    • 2009
  • After the original identification of canine parvovirus (CPV) type 2 (CPV-2) in 1978, new antigenic variants such as CPV-2a, CPV-2b and CPV-2c have become widespread in the most countries. In this study, the genetic analysis of canine parvovirus was investigated in a total of 13 CPV vaccines, which have been licensed in Korea since late 1980s, and a field isolate of CPV from a dog with CPV infection clinical symptom. The partial VP2 gene of CPV was amplified and sequenced from 13 vaccine strains and one field isolate. The results showed that of the 13 vaccine strains, 10 strains belong to the CPV-2, 2 strains to CPV-2b, the remaining and one isolate to CPV-2a type, respectively. Several mutations of amino acids were detected at residues of the critical region of the commercial vaccine strains. These data suggest that new type of vaccines containing CPV-2a or CPV-2b/2c type may be required for the better prevention of new CPV infection in dog population in Korea, because CPV-2 contained in most licensed vaccines has been replaced by antigenic variants designated CPV-2a or CPV-2b/c in the worldwide dog population.

Estimation of Interaction Effects among Nucleotide Sequence Variants in Animal Genomes

  • Lee, Chaeyoung;Kim, Younyoung
    • Asian-Australasian Journal of Animal Sciences
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    • v.22 no.1
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    • pp.124-130
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    • 2009
  • Estimating genetic interaction effects in animal genomics would be one of the most challenging studies because the phenotypic variation for economically important traits might be largely explained by interaction effects among multiple nucleotide sequence variants under various environmental exposures. Genetic improvement of economic animals would be expected by understanding multi-locus genetic interaction effects associated with economic traits. Most analyses in animal breeding and genetics, however, have excluded the possibility of genetic interaction effects in their analytical models. This review discusses a historical estimation of the genetic interaction and difficulties in analyzing the interaction effects. Furthermore, two recently developed methods for assessing genetic interactions are introduced to animal genomics. One is the restricted partition method, as a nonparametric grouping-based approach, that iteratively utilizes grouping of genotypes with the smallest difference into a new group, and the other is the Bayesian method that draws inferences about the genetic interaction effects based on their marginal posterior distributions and attains the marginalization of the joint posterior distribution through Gibbs sampling as a Markov chain Monte Carlo. Further developing appropriate and efficient methods for assessing genetic interactions would be urgent to achieve accurate understanding of genetic architecture for complex traits of economic animals.

An Endoplasmic Reticulum Cyclophilin Cpr5p Rescues Z-type α1-Antitrypsin from Retarded Folding

  • Jung, Chan-Hun;Lim, Jeong Hun;Lee, Kyunghee;Im, Hana
    • Bulletin of the Korean Chemical Society
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    • v.35 no.9
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    • pp.2781-2786
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    • 2014
  • Human ${\alpha}_1$-antitrypsin (${\alpha}_1$-AT) is a natural inhibitor of neutrophil elastases and has several dozens of genetic variants. Most of the deficient genetic variants of human ${\alpha}_1$-AT are unstable and cause pulmonary emphysema. However, the most clinically significant variant, Z-type ${\alpha}_1$-AT, exhibits retarded protein folding that leads to accumulation of folding intermediates. These aggregate within the endoplasmic reticulum (ER) of hepatocytes, subsequently causing liver cirrhosis as well as emphysema. Here, we studied the role of an ER folding assistant protein Cpr5p on Z-type ${\alpha}_1$-AT folding. Cpr5p was induced > 2-fold in Z-type ${\alpha}_1$-AT-expressing yeast cells compared with the wild type. Knockout of CPR5 exacerbated cytotoxicity of Z-type ${\alpha}_1$-AT, and re-introduction of CPR5 rescued the knockout cells from aggravated cytotoxicity caused by the ${\alpha}_1$-AT variant. Furthermore, Cpr5p co-immunoprecipitated with Z-type ${\alpha}_1$-AT and facilitated its protein folding. Our results suggest that protein-folding diseases may be suppressed by folding assistant proteins at the site of causal protein biosynthesis.

Analysis of Grapevine rupestris stem pitting-associated virus in Slovakia Reveals Differences in Intra-Host Population Diversity and Naturally Occurring Recombination Events

  • Glasa, Miroslav;Predajna, Lukas;Soltys, Katarina;Sihelska, Nina;Nagyova, Alzbeta;Wetzel, Thierry;Sabanadzovic, Sead
    • The Plant Pathology Journal
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    • v.33 no.1
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    • pp.34-42
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    • 2017
  • Grapevine rupestris stem pitting-associated virus (GRSPaV) is a worldwide-distributed pathogen in grapevines with a high genetic variability. Our study revealed differences in the complexity of GRSPaV population in a single host. A single-variant GRSPaV infection was detected from the SK30 grapevine plant. On the contrary, SK704 grapevine was infected by three different GRSPaV variants. Variant-specific RT-PCR detection protocols have been developed in this work to study distribution of the three different variants in the same plant during the season. This study showed their randomized distribution in the infected SK704 grapevine plant. Comparative analysis of full-length genome sequences of four Slovak GRSPaV isolates determined in this work and 14 database sequences showed that population of the virus cluster into four major phylogenetic lineages. Moreover, our analyses suggest that genetic recombination along with point mutations could play a significant role in shaping evolutionary history of GRSPaV and contributed to its extant genetic diversification.

Improved Receding Horizon Fourier Analysis for Quasi-periodic Signals

  • Kwon, Bo-Kyu;Han, Soohee;Han, Sekyung
    • Journal of Electrical Engineering and Technology
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    • v.12 no.1
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    • pp.378-384
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    • 2017
  • In this paper, an efficient short-time Fourier analysis method for the quasi-periodic signals is proposed via an optimal fixed-lag finite impulse response (FIR) smoother approach using a receding horizon scheme. In order to deal with time-varying Fourier coefficients (FCs) of quasi-periodic signals, a state space model including FCs as state variables is augmented with the variants of FCs. Through an optimal fixed-lag FIR smoother, FCs and their increments are estimated simultaneously and combined to produce final estimates. A lag size of the optimal fixed-lag FIR smoother is chosen to minimize the estimation error. Since the proposed estimation scheme carries out the correction process with the estimated variants of FCs, it is highly probable that the smaller estimation error is achieved compared with existing approaches not making use of such a process. It is shown through numerical simulation that the proposed scheme has better tracking ability for estimating time-varying FCs compared with existing ones.

Performance Test of A Reverse-Annular Type Combustor (TS2) for APU (보조동력장치용 환형 역류형 연소기 (TS2) 성능 시험)

  • Ko, Young-Sung;Han, Yeoung-Min;Yang, Soo-Seok;Lee, Dae-Sung;Yun, Sang-Sig;Choi, Sung-Man
    • Proceedings of the KSME Conference
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    • 2001.06d
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    • pp.840-845
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    • 2001
  • Development of a small gas-turbine combustor for 100kW class APU(Auxiliary Power Unit) has been performed. This combustor is a reverse-annular type and has a tangential swirler in the liner head to improve the fuel/air mixing and flame stability. Three main and three pilot fuel injectors of the simplex pressure-swirl type are used. The performance target at the design condition includes a turbine inlet temperature of 1170K, a combustion efficiency of 99%, a pattern factor of 30%, and an engine durability of 3000 hours. Under developing the combustor, we conducted performance test of our first prototype(TS1) with some variants. As a result of the test, the performance targets of the combustor are satisfied except that the pattern factor is about 4% higher than target value. So, we redesigned the second prototype(TS2) and conduct performance test with the critical focus on pattern factor and exit mean temperature. We adopted TS2 four variant to check the improvement of pattern factor. As the result, the pattern factors of several variants were satisfied with the performance target. Finally, We chose the TS2A variant as a final combustor for our APU model.

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Warthin-Like Tumor of Thyroid Gland : A Case Report (갑상선의 Warthin 모양 종양 1예)

  • Kwon Ki-Hwan;Yoon Jong-Ho;Hong Soon-Won;Koo Ja-Seung;Chung Woung-Youn;Park Cheong-Soo
    • Korean Journal of Head & Neck Oncology
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    • v.20 no.1
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    • pp.33-36
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    • 2004
  • Papillary carcinoma of thyroid is the most common thyroid carcinoma carrying better prognosis than the other thyroid carcinoma. Among the variants in the papillary thyroid carcinoma, the tall cell variant and diffuse sclerosing variants have more aggressive behavior than the classic papillary carcinoma. Recently, a new variant of papillary carcinoma has been reported which was named warthin-like tumor of the thyroid because of its close histologic resemblance to a tumor encountered in the salivary gland, carrying favorable prognosis. Since then, in English literature, a few cases have been reported, but in Korea have not been reported yet. We report a case of warthin-like tumor of the thyroid. A 38 year-old woman who had neck mass, was administered for thyroid surgery due to suspicious thyroid cytology. Right total thyroidectomy and left subtotal thyroidectomy with central compartment node dissection was performed. Histologic diagnosis was made as a Warthin-like tumor of the thyroid.

Identification of Ethnically Specific Genetic Variations in Pan-Asian Ethnos

  • Yang, Jin Ok;Hwang, Sohyun;Kim, Woo-Yeon;Park, Seong-Jin;Kim, Sang Cheol;Park, Kiejung;Lee, Byungwook;The HUGO Pan-Asian SNP Consortium
    • Genomics & Informatics
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    • v.12 no.1
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    • pp.42-47
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    • 2014
  • Asian populations contain a variety of ethnic groups that have ethnically specific genetic differences. Ethnic variants may be highly relevant in disease and human differentiation studies. Here, we identified ethnically specific variants and then investigated their distribution across Asian ethnic groups. We obtained 58,960 Pan-Asian single nucleotide polymorphisms of 1,953 individuals from 72 ethnic groups of 11 Asian countries. We selected 9,306 ethnic variant single nucleotide polymorphisms (ESNPs) and 5,167 ethnic variant copy number polymorphisms (ECNPs) using the nearest shrunken centroid method. We analyzed ESNPs and ECNPs in 3 hierarchical levels: superpopulation, subpopulation, and ethnic population. We also identified ESNP- and ECNP-related genes and their features. This study represents the first attempt to identify Asian ESNP and ECNP markers, which can be used to identify genetic differences and predict disease susceptibility and drug effectiveness in Asian ethnic populations.

Risk Prediction Using Genome-Wide Association Studies on Type 2 Diabetes

  • Choi, Sungkyoung;Bae, Sunghwan;Park, Taesung
    • Genomics & Informatics
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    • v.14 no.4
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    • pp.138-148
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    • 2016
  • The success of genome-wide association studies (GWASs) has enabled us to improve risk assessment and provide novel genetic variants for diagnosis, prevention, and treatment. However, most variants discovered by GWASs have been reported to have very small effect sizes on complex human diseases, which has been a big hurdle in building risk prediction models. Recently, many statistical approaches based on penalized regression have been developed to solve the "large p and small n" problem. In this report, we evaluated the performance of several statistical methods for predicting a binary trait: stepwise logistic regression (SLR), least absolute shrinkage and selection operator (LASSO), and Elastic-Net (EN). We first built a prediction model by combining variable selection and prediction methods for type 2 diabetes using Affymetrix Genome-Wide Human SNP Array 5.0 from the Korean Association Resource project. We assessed the risk prediction performance using area under the receiver operating characteristic curve (AUC) for the internal and external validation datasets. In the internal validation, SLR-LASSO and SLR-EN tended to yield more accurate predictions than other combinations. During the external validation, the SLR-SLR and SLR-EN combinations achieved the highest AUC of 0.726. We propose these combinations as a potentially powerful risk prediction model for type 2 diabetes.

Surgical Treatment of Acute Traumatic Peroneal Tendon Dislocation (급성 외상성 비골근 탈구의 수술적 치료)

  • Choi, Eun-Seok;Park, Hong-Ki
    • Journal of Korean Foot and Ankle Society
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    • v.9 no.2
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    • pp.179-183
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    • 2005
  • Purpose: Acute traumatic peroneal tendon dislocation is relatively rare disease and their methods of treatment is controversial, that we want to assess the characters and outcomes of 8 patients with early surgical treatments. Materials and Methods: We evaluated the results of 8 patients who can follow up more than 28 months using sex, age, side, injury sports, concomitant injuries, Eckert and Davis classifications, anatomic variants, results and complications. Results: All of 8 patients was male, average age was 27, Right side was dominant (5/8), causal sports was variable. Concomitant injuries were distal tibiofibular ligament syndesmosis injury, Peroneus longus injury, lateral collateral ligament injury. On behalf of Eckert and Davis classifications 5 patients were Grade 1 and other 3 patients were Grade 2. 1 case of low lying peroneus brevis belly was found as an anatomic variants. 6 of patients shown excellent results, 2 patients were good. Post operative complications were discomfort of operation site and mild limited dorsiflexion on ankle joint. Conclusion: Careful history and physical exam is important for diagnosis. And surgical treatments can expect good results.

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