• Toxicological Research
• /
• v.16 no.1
• /
• pp.59-61
• /
• 2000

A single nucleotide polymorphism in the transforming growth factor-$\beta$ type II receptor (TGE$\beta$RII) gene of the rat was studied. TGF$\beta$RII is a tumor suppressor that is frequently inactivated by mutation in human colon cancers. A novel nucleotide polymorphism of G to A(or A to G), which causes a silent mutation at codon 129, was found in G:C rich sequence in the TGF$\beta$RII gene of Sprague-Dawley rats. The results suggest that genetic polymorphism occures without a strain of the laboratory animal.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.27 no.4
• /
• pp.267-277
• /
• 2016

Attention-deficit hyperactivity disorder (ADHD) is a common, childhood-onset, neuropsychiatric disorder with an estimated prevalence of 2-7.6% in Korean children. Although the etiology of ADHD is not well understood, evidence from genetic factor and environmental factor studies suggests that ADHD results from a gene environmental interaction. In the current study, we reviewed the evidence for and clinical implications of the hypothetical roles of organophosphate pesticides, organochlorine pesticides, polychlorinated biphenyls, phthalate, bisphenol, polyfluoroalkyl chemicals, polycyclic aromatic hydrocarbons, mercury, lead, arsenic, cadmium, manganese, tobacco, alcohol as harmful risk factors in the development of ADHD.

• Biomedical Science Letters
• /
• v.15 no.1
• /
• pp.101-103
• /
• 2009

The hepatocyte nuclear factor-$4{\alpha}$ (HNF-$4{\alpha}$), transcription factor involved in the regulation of serum lipid and glucose levels, has recently been reported to be associated with type 2 diabetes. Therefore, we investigated the genotype for the rs1884614 of HNF-$4{\alpha}$ gene in Korean population and compared genotype of patients with control group. 100 patients (Male 63, Female 37), who previously underwent type 2 diabetes (T2DM) and 100 controls (Male 36, Female 64) participated in this study. According to our present study there was no association between rs1884614 polymorphism in HNF-$4{\alpha}$ gene and T2DM in Koreans although other reports showed that HNF-$4{\alpha}$ polymorphisms might be associated with the pathogenesis of T2DM in Pima Indians et al. We assume that this finding should contribute to understanding of type 2 diabetes in Korean population in detail at genetic level.

• Tuberculosis and Respiratory Diseases
• /
• v.64 no.6
• /
• pp.466-470
• /
• 2008

A factor VII gene -401 G/A polymorphism was identified in a patient with a pulmonary embolism. The patient was a 71-year-old woman who presented with acute-onset dyspnea. A chest CT scan revealed a pulmonary embolism. Despite the administration of low-dose warfarin as anticoagulation therapy, there was an excessively prolonged prothrombin time (PT). The blood tests revealed lower factor VII activity than normal. Full factor VII gene sequencing revealed a G to A substitution at -401 in the promoter region. There were no other gene sequence anomalies. PCR-based analysis indicated lower factor VII gene expression in the patient than in a control subject. The data suggested the promoter polymorphism to be responsible for the lower transcription level. In conclusion, we encountered a case of Factor VII DNA polymorphism in a patient with a pulmonary embolism showing significantly reduced Factor VII activity.

• BMB Reports
• /
• v.42 no.9
• /
• pp.617-622
• /
• 2009

We investigated the genetic associations of ischemic stroke by identifying epistasis of its heterogeneous subtypes such as small vessel occlusion (SVO) and large artery atherosclerosis (LAA). Epistasis was analyzed with 24 genes in 207 controls and 271 patients (SVO = 110, LAA = 95) using multifactor dimensionality reduction and entropy decomposition. The multifactor dimensionality reduction analysis with any of 1- to 4-locus models showed no significant association with LAA (P > 0.05). The analysis of SVO, however, revealed a significant association in the best 3-locus model with P10L of TGF-$\beta{1}$, C1013T of SPP1, and R485K of F5 (testing balanced accuracy = 63.17%, P < 0.05). Subsequent entropy analysis also revealed that such heterogeneity was present and quite a large entropy was estimated among the 3 loci for SVO (5.43%), but only a relatively small entropy was estimated for LAA (1.81%). This suggests that the synergistic epistasis model might contribute specifically to the pathogenetsis of SVO, which implies a different etiopathogenesis of the ischemic stroke subtypes.

• Genomics & Informatics
• /
• v.12 no.3
• /
• pp.114-120
• /
• 2014

Bone mineral density (BMD) is one of the quantitative traits that are genetically inherited and affected by various factors. Over the past years, genome-wide association studies (GWASs) have searched for many genetic loci that influence BMD. A recent meta-analysis of 17 GWASs for BMD of the femoral neck and lumbar spine is the largest GWAS for BMD to date and offers 64 single-nucleotide polymorphisms (SNPs) in 56 associated loci. We investigated these BMD loci in a Korean population called Korea Association REsource (KARE) to identify their validity in an independent study. The KARE population contains genotypes from 8,842 individuals, and their BMD levels were measured at the distal radius (BMD-RT) and midshaft tibia (BMD-TT). Thirteen genomic loci among 56 loci were significantly associated with BMD variations, and 3 loci were involved in known biological pathways related to BMD. In order to find putative functional variants, nearby SNPs in relation to linkage equilibrium were annotated, and their possible functional effects were predicted. These findings reveal that tens of variants, not a single factor, may contribute to the genetic architecture of BMD; have an important role regardless of ethnic group; and may highlight the importance of a replication study in GWASs to validate genuine loci for BMD variation.

• Journal of the Korean Institute of Intelligent Systems
• /
• v.18 no.5
• /
• pp.611-616
• /
• 2008

Error correcting codes (ECCs) are commonly used to protect against the soft errors. Single error correcting and double error detecting (SEC-DED) codes are generally used for this purpose. The proposed approach in this paper selectively reduced power consumption, delay, and area in single-error correcting, double error-detecting checker circuits that perform memory error correction. The multi-objective genetic algorithm is employed to solve the non -linear optimization problem. The proposed method allows that user can choose one of different non-dominated solutions depending on which consideration is important among them. Because we use multi-objective genetic algorithm, we can find various dominated solutions. Therefore, we can choose the ECC according to the important factor of the power, delay and area. The method is applied to odd-column weight Hsiao code which is well- known ECC code and experiments were performed to show the performance of the proposed method.

• BMB Reports
• /
• v.36 no.1
• /
• pp.28-34
• /
• 2003

Breast cancer is the most prevalent cancer among women in Western countries, and its prevalence is also increasing in Asia. The major risk factor for breast cancer can be traced to reproductive events that influence the lifetime levels of hormones. However, a large percentage of breast cancer cases cannot, be explained by these risk factors. The identification of susceptibility factors that predispose individuals to breast cancer (for instance, if they are exposed to particular environmental agents) could possibly give further insight into the etiology of this malignancy and provide targets for the future development of therapeutics. The most interesting candidate genes include those that mediate a range of functions. These include carcinogen metabolism, DNA repair, steroid hormone metabolism, signal transduction, and cell cycle control. We conducted a hospital-based case-control study in South Korea to evaluate the potential modifying role of the genetic polymorphisms of selected low penetrance genes that are involved in carcinogen metabolisms (i.e., CYP1A1, CYP2E1, GSTM1/T1/P1, NAT1/2, etc.), estrogen synthesis and metabolism (i.e., CYP19, CYP17, CYP1B1, COMT, ER-$\alpha$, etc.), DNA repair (i.e., XRCC1/3, ERCC2/4, ATM, AGT, etc.), and signal transduction as well as others (i.e., TGF-$\beta$, IGF-1, TNF-$\beta$, IL-1B, IL-1RN, etc.). We also took into account the potential interaction between these and the known risk factors of breast cancer. The results of selected genes will be presented in this mini-review.

• Journal of the Korea Academia-Industrial cooperation Society
• /
• v.6 no.6
• /
• pp.506-512
• /
• 2005

Load redistribution algorithm is a critical factor in computer system. In a receiver-initiated Toad redistribution algorithm, receiver(underloaded processor) continues to send unnecessary request messages for load transfer until a sender(overloaded processor) is found while the system load is light. Therefore, it yields many problems such as low cpu utilization and system throughput because of inefficient inter-processor communications until the receiver receives an accept message from the sender in this environment. This paper presents an approach based on genetic algorithm(GA) for dynamic load redistribution including self-adjustable in heterogeneous distributed systems. In this scheme the processors to which the requests are sent off are determined by the proposed GA to decrease unnecessary request messages.

• Journal of Microbiology and Biotechnology
• /
• v.10 no.4
• /
• pp.470-475
• /
• 2000

Genetic chracterstics of the structural gene of guamerin (a novel elastase inhibitor from Korean leech), integrated into the HIS4 locus of chromosomal DNA of Pichia pastoris along with the $\alpha$-factor leader sequence, were investigated. In the selected clone from candidates, two copies of the integration cassette including the structural gene copies of the integration cassette including the structural gene of guamerin were found in the integration site of the chromosomal DNA of P.pastoris. It was demonstrated that the integrated structural gene of guamerin was stable up to about 70 generations in the relay flask culture. Then, a high-cell-density culture could be fulfilled easily by DO-stat fed-batch culture, in which the cell growth and the recombinant guamerin production reached about 250 of OD600nm and 260 mg/l, respectively. Finally, it was revealed that the DNA sequence of the integrated structural gene of guamerin in P. pastoris was maintained correctly in the end of production cells of relay flask culture and high-cell-density culture.