• Environmental Mutagens and Carcinogens
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• v.22 no.1
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• pp.47-53
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• 2002

Essential hypertension is complex disorder influenced by multiple genetic and environmental factors. Alterations of lipid metabolism in plasma have been reported to be related to an increased risk of essential hypertension. The aim of this study was to investigate the relationship between two SNPs of the human LDL receptor and CETP gene and hypertension in Korean population. There were no significant differences in allele and genotype frequencies of two SNPs in normotensives and hypertensives. With respect to Hinc II RFLP in the LDL receptor gene, pooled odds ratio value indicated the significant heterogeneity among populations studied by meta-analysis (Breslow-Day test df = 2, P<0.05). In the case of Bam HI RFLP in the CETP gene,. our study is the first report of an association between the SNP of the CETP gene and hypertension, although our result failed to demonstrate the significant association between the Bam HI RFLP of the CETP gene and hypertension in Korean population. Further work, using larger sample sizes and various ethnic groups, is required to establish the precise role of these two candidate gene polymorphisms on hypertension.

• Journal of Life Science
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• v.16 no.1
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• pp.88-94
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• 2006

The random amplified polymorphic DNA (RAPD) technique was investigated as a potential tool for the origin identification of olive flounder (Paralichthys olivaceus) and redlip croaker (Pseudosciaena polyactis). Olive flounder specimens were collected from North Korea and several locations of South Korea (Jumunjin, Tongyoung and Geoje). Fishes obtained from Tongyeong and Geoje were cultured products. Redlip croaker specimens were collected from South Korea and China. Consistent and distinct diagnostic bands were easily identified in the RAPD patterns of the olive flounder specimens. Although consistent diagnostic bands rarely appeared in the RAPD pattern of redlip croaker specimens because of their genetic heterogeneity, we were able to find potential diagnostic bands in the average RAPD pattern of each origin.

• Journal of Life Science
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• v.16 no.4
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• pp.699-703
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• 2006

Maize (Zea mays L.) is a monoecious plant, which separates male (tassel) and female (ear) floret that evolved into increasing heterogeneity. In each floret, male or female, bears both one pistil and three stamens primodia before diverged to unisexual state. When diverged to tassel, pistil cell death occurs in the pistil primodium, which is mediated by TASSELSEED genes. In contrast, cell protection occurs in the ear pistil from TASSELSEED-mediated cell death, which is mediated by SILKLESS1 gene. On the other hand, cell cycle arrest occurred for a long time in the ear stamens and then the stamens eventually dye. The cell cycle regulating genes such as CYCLIN B and WEE1 are involved in this process. Furthermore, the temporal and spatial regulation of gibberellin biosynthesis may cause cell cycle block in arresting stamen cells. This review describes the cell death, cell protection, and cell cycle arrest mechanism during maize sex determination process at the molecular, cellular and developmental biology, and genetic levels.

• Genes and Genomics
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• v.40 no.12
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• pp.1279-1285
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• 2018

Interdigitating dendritic cell sarcoma (IDCS) is an aggressive neoplasm and is an extremely rare disease, with a challenging diagnosis. Etiology of IDCS is also unknown and most studies with only case reports. In our case, immunohistochemistry showed that the tumor cells were positive for S100, CD45, and CD68, but negative for CD1a and CD21. This study aimed to investigate the causative factors of IDCS by sequencing the protein-coding regions of IDCS. We performed whole-exome sequencing with genomic DNA from blood and sarcoma tissue of the IDCS patient using the Illumina Hiseq 2500 platform. After that, we conducted Sanger sequencing for validation of sarcoma-specific variants and gene ontology analysis using DAVID bioinformatics resources. Through comparing sequencing data of sarcoma with normal blood, we obtained 15 nonsynonymous single nucleotide polymorphisms (SNPs) as sarcoma-specific variants. Although the 15 SNPs were not validated by Sanger sequencing due to tumor heterogeneity and low sensitivity of Sanger sequencing, we examined the function of the genes in which each SNP is located. Based on previous studies and gene ontology database, we found that POLQ encoding DNA polymerase theta enzyme and FNIP1 encoding tumor suppressor folliculin-interacting protein might have contributed to the IDCS. Our study provides potential causative genetic factors of IDCS and plays a role in advancing the understanding of IDCS pathogenesis.

• Korean Journal of Environmental Agriculture
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• v.38 no.3
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• pp.185-196
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• 2019

BACKGROUND: This study investigated the effects of rice genetically modified to be resistant against rice blast and rice bacterial blight on the soil microbial community. A comparative analysis of the effects of rice genetically modified rice choline kinase (OsCK1) gene for disease resistance (GM rice) and the Nakdong parental cultivar (non-GM rice) on the soil microbial community at each stage was conducted using rhizosphere soil of the OsCK1 and Nakdong rice. METHODS AND RESULTS: The soil chemistry at each growth stage and the bacterial and fungal population densities were analyzed. Soil DNA was extracted from the samples, and the microbial community structures of the two soils were analyzed by pyrosequencing. No significant differences were observed in the soil chemistry and microbial population density between the two soils. The taxonomic analysis showed that Chloroflexi, Proteobacteria, Firmicutes, Actinobacteria, and Acidobacteria were present in all soils as the major phyla. Although the source tracking analysis per phylogenetic rank revealed that there were differences in the bacteria between the GM and non-GM soil as well as among the cultivation stages, the GM and non-GM soil were grouped according to the growth stages in the UPGMA dendrogram analysis. CONCLUSION: The difference in bacterial distributions between Nakdong and OsCK1 rice soils at each phylogenetic level detected in microbial community analysis by pyrosequencing may be due to the genetic modification done on GM rice or due to heterogeneity of the soil environment. In order to clarify this, it is necessary to analyze changes in root exudates along with the expression of transgene. A more detailed study involving additional multilateral soil analyses is required.

• Animal Bioscience
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• v.37 no.5
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• pp.817-825
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• 2024

Objective: The aim of this study was to identify suitable polynomial regression for modeling the average growth trajectory and to estimate the relative development of the rib eye area, scrotal circumference, and morphometric measurements of Guzerat young bulls. Methods: A total of 45 recently weaned males, aged 325.8±28.0 days and weighing 219.9±38.05 kg, were evaluated. The animals were kept on Brachiaria brizantha pastures, received multiple supplementations, and were managed under uniform conditions for 294 days, with evaluations conducted every 56 days. The average growth trajectory was adjusted using ordinary polynomials, Legendre polynomials, and quadratic B-splines. The coefficient of determination, mean absolute deviation, mean square error, the value of the restricted likelihood function, Akaike information criteria, and consistent Akaike information criteria were applied to assess the quality of the fits. For the study of allometric growth, the power model was applied. Results: Ordinary polynomial and Legendre polynomial models of the fifth order provided the best fits. B-splines yielded the best fits in comparing models with the same number of parameters. Based on the restricted likelihood function, Akaike's information criterion, and consistent Akaike's information criterion, the B-splines model with six intervals described the growth trajectory of evaluated animals more smoothly and consistently. In the study of allometric growth, the evaluated traits exhibited negative heterogeneity (b<1) relative to the animals' weight (p<0.01), indicating the precocity of Guzerat cattle for weight gain on pasture. Conclusion: Complementary studies of growth trajectory and allometry can help identify when an animal's weight changes and thus assist in decision-making regarding management practices, nutritional requirements, and genetic selection strategies to optimize growth and animal performance.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.29-35
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• 2020

Joubert syndrome (JS) is a rare genetic disorder that is characterized by ataxia, hypotonia, developmental delay, respiratory abnormalities such as apnea-hyperpnea, and abnormal eye movements. The pathognomonic diagnostic finding is the "molar tooth sign" (MTS) on brain magnetic resonance imaging (MRI), described as cerebellar vermis hypoplasia or dysplasia, thick and horizontally oriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. JS is characterized by genetic heterogeneity: pathogenic variants in over 30 genes have been identified to date. The CEP290 protein, which is on chromosome 12q21.3, is most frequently mutated in patients with JS, especially with renal involvement. Here, we report a case of JS in a 14-year-old male patient with end-stage renal disease. To the best of our knowledge, this is the first Korean report of a patient with JS due to CEP290 mutation (c.6012-12T> A) whose diagnosis was confirmed after repetitive MRI. We suggest consultation with an experienced neuro-radiologist and follow-up MRI studies to detect a "hidden" MTS if clinical findings suggest a diagnosis of JS. Furthermore, even in the absence of an MTS, whole exome sequencing should be considered.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.15
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• pp.6705-6709
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• 2015

Background: Venous thromboembolisms (VTEs) constitute a group of diseases including deep vein thrombosis (DVT) and pulmonary embolism (PE). They regarded as the second leading cause of death in cancer patients and several studies have confirmed that VTEs have a negative impact on survival and recurrent rate in both ovarian and endometrial cancer cases. The incidence of VTEs differs worldwide and depends on several risk factors including race, underlying disease, lifestyle, body weight, BMI and genetic risk factors. There is heterogeneity of DVT rates between Asian and Western countries. This study was conducted in order to evaluate the character and incidence of VTEs in gynecologic oncology patients in King Chulalongkorn Memorial Hospital over a 10 year period. Materials and Methods: A retrospective chart review was performed with VTEs defined as objective diagnosis of acute DVT or PE with typical symptoms and signs. Diagnoses were approved byan internist and/or confirmed with imaging studies. Data from both outpatient and inpatient sessions of the affected cases from January 2004 to December 2013 were extracted. General characteristics of the patients were collected with details of the diseases, types of cancer, stage, date of diagnosis of cancer, operative data, treatment outcome, progression free survival and overall survival. Results: Thirty cases of VTEs were identified in a total 2,316 gynecologic oncology cases. The incidence of symptomatic VTEs in total gynecologic oncology patients in our institution is 1.295%. The incidence of VTEs in ovarian cancer patients in our institution was 5.9%. Duration for VTE detection ranged from 13 months before diagnosis of cancer to 33 months after diagnosis of cancer. Most of the VTE cases were detected in ovarian cancer patients (60%). The most common cell type was adenocarcinoma (moderately to poorly differentiated) which accounted for 26.7% of the cases. The second most common cell type was clear cell carcinoma with 23.3% of the cases. Thirty percent of VTE cases developed before cancer was diagnosed, 20% were diagnosed at the same time as cancer detection and fifty percent developed after cancer was diagnosed. Median disease free survival of the gynecologic oncology patients with VTE was 7.5 months. Median overall survival (OS) was 12 months. Median progession free survivals of DVT and PE groups were 11.5 and 5.5 months, respectively. OS of DVT and PE was 12.0 and 11.5 months respectively. Conclusions: The incidence of VTE in Asian countries is believed to be lower than in European or Western countries. From our retrospective review, the incidence of VTEs in all types of gynecologic oncology was 1.295%, much lower than reported in the West. The reason for the lower incidence may genetic differences. Another factor is that VTE in this review was symptomatic, which is less than asymptomatic VTE. More than half of VTEs in this study developed in ovarian cancer patients. The results are compatible with earlier reports that among gynecologic malignancies, the incidence of VTE is highest in ovarian cancer.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.72-79
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• 2007

Purpose : Glycogen storage disease type III (GSD-III) is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme, amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), is responsible for the debranching of the glycogen molecule during catabolism. The disease shows clinical and biochemical heterogeneity, reflecting genotype-phenotype heterogeneity among different patients. In this study, we aim at analyzing mutations of the AGL gene in three unrelated Korean GSD-III patients, and characterizing their clinical and laboratory findings. Methods : We characterized the clinical features of three unrelated Korean GSD-III patients by biochemical, histological and imaging studies. The 35 exons and part of exon-intron boundaries of AGL were analyzed by direct sequencing using genomic DNA extracted from the peripheral leukocytes of patients. Results : Diverse clinical features were observed in these patients including hepatomegaly (all patients), seizures (patient 2), grow th failure (patients 1 and 2), hyperlipidemia (patients 1 and 3), raised transaminase and creatine kinase concentrations (all patients), and mild cardiomyopathy (patient 2). Liver transplantation w as performed in patient 2 due to progressive hepatic fibrosis. A dministration of uncooked corn starch maintained normoglycemia and improved biochemical and growth profiles. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 had c.1510_1511insT (p.Y 504L fsX 10), and patient 3 had c.3416 T >C (p.L 1139P) and c.1735+1 G>T (p.Y 538_R578delfsX 4) mutations. A part from the p.R428K mutation, the 4 other substitutions identified w ere nov el. Conclusion : GSD-III patients display variable phenotypic characteristics resembling those of GSD-Ia. Molecular defects in the AGL gene of Korean GSD-III patients are genetically heterogeneous.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.16
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• pp.6813-6823
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• 2015

Glioblastoma, also known as glioblastoma multiforme (GBM), is the most aggressive of human brain tumors and has a stunning progression with a mean survival of one year from the date of diagnosis. High cell proliferation, angiogenesis and/or necrosis are histopathological features of this cancer, which has no efficient curative therapy. This aggressiveness is associated with particular heterogeneity of the tumor featuring multiple genetic and epigenetic alterations, but also with implications of aberrant signaling driven by growth factors. The transforming growth factor ${\beta}$ ($TGF{\beta}$) superfamily is a large group of structurally related proteins including $TGF{\beta}$ subfamily members Nodal, Activin, Lefty, bone morphogenetic proteins (BMPs) and growth and differentiation factor (GDF). It is involved in important biological functions including morphogenesis, embryonic development, adult stem cell differentiation, immune regulation, wound healing and inflammation. This superfamily is also considered to impact on cancer biology including that of GBM, with various effects depending on the member. The $TGF{\beta}$ subfamily, in particular, is overexpressed in some GBM types which exhibit aggressive phenotypes. This subfamily impairs anti-cancer immune responses in several ways, including immune cells inhibition and major histocompatibility (MHC) class I and II abolishment. It promotes GBM angiogenesis by inducing angiogenic factors such as vascular endothelial growth factor (VEGF), plasminogen activator inhibitor (PAI-I) and insulinlike growth factor-binding protein 7 (IGFBP7), contributes to GBM progression by inducing metalloproteinases (MMPs), "pro-neoplastic" integrins (${\alpha}v{\beta}3$, ${\alpha}5{\beta}1$) and GBM initiating cells (GICs) as well as inducing a GBM mesenchymal phenotype. Equally, Nodal promotes GICs, induces cancer metabolic switch and supports GBM cell proliferation, but is negatively regulated by Lefty. Activin promotes GBM cell proliferation while GDF yields immune-escape function. On the other hand, BMPs target GICS and induce differentiation and sensitivity to chemotherapy. This multifaceted involvement of this superfamily in GBM necessitates different strategies in anti-cancer therapy. While suppressing the $TGF{\beta}$ subfamily yields advantageous results, enhancing BMPs production is also beneficial.