• Title/Summary/Keyword: Genetic diseases

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A Case-Control Study of Primary Liver Cancer and Liver Disease History (간 질환력과 원발성 간암에 관한 환자-대조군 연구)

  • Kim, Dong-Hyun;Park, Byung-Joo;Yoo, Keun-Young;Ahn, Yoon-Ok;Lee, Hyo-Suk;Kim, Chung-Yong;Lee, Sang-Il;Lee, Moo-Song;Ahn, Hyung-Sik;Kim, Heon;Park, Tae-Soo
    • Journal of Preventive Medicine and Public Health
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    • v.27 no.2 s.46
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    • pp.217-225
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    • 1994
  • The relationship between past liver disease history and the risk of primary liver cancer was analyzed in a hospital-based case-control study conducted in Seoul on 165 patients with histologically or serologically confirmed hepatocellular carcinoma and individually age- and sex-matched 165 controls in hospital for ophthalmologic, otologic, or nasopharyngeal problems. Significant association were observed for liver deseases occurring 5 or more years before liver cancer diagnosis [OR,4.9;95% confidence interval (CI), $1.6{\sim}14.0$) and family history of liver disease(OR, 9.0;95% CI, $2.1{\sim}38.8$). These associations were not appreciably modified by allowance for major identified potential confounding factors. From these results, it is possible to speculate that liver cell injuries caused by various factors might be a common pathway to developing primary liver carcinoma. Considering the significant effect of family history of liver diseases on PLCA risk after adjusting past liver disease history, there might be genetic susceptibility in the carcinogenic mechanism of liver cancer. Further investigations are needed to clarify the effect of family history of liver disease on PLCA risk.

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Molecular characterization and expression of a disintegrin and metalloproteinase with thrombospondin motifs 8 in chicken

  • Lee, Ra Ham;Lee, Seokhyun;Kim, Yu Ra;Kim, Sung-Jo;Lee, Hak-Kyo;Song, Ki-Duk
    • Asian-Australasian Journal of Animal Sciences
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    • v.31 no.8
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    • pp.1366-1372
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    • 2018
  • Objective: A disintegrin and metallopeptidase with thrombospondin motifs type 8 (ADAMTS8) is crucial for diverse physiological processes, such as inflammation, tissue morphogenesis, and tumorigenesis. The chicken ADAMTS8 (chADAMTS8) gene was differentially expressed in the kidney following exposure to different calcium concentrations, suggesting a pathological role of this protein in metabolic diseases. We aimed to examine the molecular characteristics of chADAMTS8 and analyze the gene-expression differences in response to toll-like receptor 3 (TLR3) stimulation. Methods: The ADAMTS8 mRNA and amino acid sequences of various species (chicken, duck, cow, mouse, rat, human, chimpanzee, pig, and horse) were retrieved from the Ensembl database and subjected to bioinformatics analyses. Reverse-transcription polymerase chain reaction (RT-PCR) and quantitative PCR (qPCR) experiments were performed with various chicken tissues and the chicken fibroblast DF-1 cell line, which was stimulated with polyinosinic-polycytidylic acid (poly[I:C]; a TLR3 ligand). Results: The chADAMTS8 gene was predicted to contain three thrombospondin type 1 (TSP1) domains, whose amino acid sequences shared homology among the different species, whereas sequences outside the TSP1 domains (especially the amino-terminal region) were very dif­ferent. Phylogenetic analysis revealed that chADAMTS8 is evolutionarily clustered in the same clade with that of the duck. chADAMTS8 mRNA was broadly expressed in chicken tissues, and the expression was significantly up-regulated in the DF-1 cells in response to poly(I:C) stimulation (p<0.05). These results showed that chADAMTS8 may be a target gene for TLR3 signaling. Conclusion: In this report, the genetic information of chADAMTS8 gene, its expression in chicken tissues, and chicken DF-1 cells under the stimulation of TLR3 were shown. The result suggests that chADAMTS8 expression may be induced by viral infection and correlated with TLR3-mediated signaling pathway. Further study of the function of chADAMTS8 during TLR3-dependent inflammation (which represents RNA viral infection) is needed and it will also be important to examine the molecular mechanisms during different regulation, depending on innate immune receptor activation.

Genetic signature of strong recent positive selection at interleukin-32 gene in goat

  • Asif, Akhtar Rasool;Qadri, Sumayyah;Ijaz, Nabeel;Javed, Ruheena;Ansari, Abdur Rahman;Awais, Muhammd;Younus, Muhammad;Riaz, Hasan;Du, Xiaoyong
    • Asian-Australasian Journal of Animal Sciences
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    • v.30 no.7
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    • pp.912-919
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    • 2017
  • Objective: Identification of the candidate genes that play key roles in phenotypic variations can provide new information about evolution and positive selection. Interleukin (IL)-32 is involved in many biological processes, however, its role for the immune response against various diseases in mammals is poorly understood. Therefore, the current investigation was performed for the better understanding of the molecular evolution and the positive selection of single nucleotide polymorphisms in IL-32 gene. Methods: By using fixation index ($F_{ST}$) based method, IL-32 (9375) gene was found to be outlier and under significant positive selection with the provisional combined allocation of mean heterozygosity and $F_{ST}$. Using nucleotide sequences of 11 mammalian species from National Center for Biotechnology Information database, the evolutionary selection of IL-32 gene was determined using Maximum likelihood model method, through four models (M1a, M2a, M7, and M8) in Codeml program of phylogenetic analysis by maximum liklihood. Results: IL-32 is detected under positive selection using the $F_{ST}$ simulations method. The phylogenetic tree revealed that goat IL-32 was in close resemblance with sheep IL-32. The coding nucleotide sequences were compared among 11 species and it was found that the goat IL-32 gene shared identity with sheep (96.54%), bison (91.97%), camel (58.39%), cat (56.59%), buffalo (56.50%), human (56.13%), dog (50.97%), horse (54.04%), and rabbit (53.41%) respectively. Conclusion: This study provides evidence for IL-32 gene as under significant positive selection in goat.

Review of Myositis Ossificans (골화성 근염에 대한 고찰)

  • Bae Sung-Soo;Park Rae-Joon;Han Dong-Uk
    • The Journal of Korean Physical Therapy
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    • v.12 no.2
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    • pp.255-265
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    • 2000
  • The term 'myositis ossificans' encompasses four categories of clinicopathological disorders. The first, myositis ossificans progressive(fibrodysplasia ossificans progressive), is a rare genetic disease characterized by progressive heterotopic ossification involving skeletal muscle, tendon, ligaments, and fascia, with congenital malformation of the great toes, and usually microdactyly, monophalangism, and mal formed proximal phalanges. with valgus deformity of metatarsophalangeal joint. The ossification begins shortly after birth and may contribute to the patient's death. The second, heterotopic ossificans, can occur in patients with neuromuscular and chronic diseases such as paraplegia, poliomyelitis, polymyositis, bum, tetanus, and infection. But the lesions in these cases often lack the typical histologic features of myositis ossificans. The third, myositis ossificans traumatica, is the most common; it develops in response to soft tissue trauma such as a single severe injury, minor repetitive injures, fracture, joint dislocation, stab wound, or surgical incision. The forth, nontraumatic myositis ossificans, also designated :pseudomalignant osseous tumors of extraskeletal soft tissues' and 'psedomalignant myositis ossificans', occurs in persons repeated small mechanical injures or nonmechanical soft tissue injuries due to local ischemia, inflammation. or other factors cannot be ruled out in such cases.

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Genetic Control of Asexual Sporulation in Fusarium graminearum

  • Son, Hokyoung;Kim, Myung-Gu;Chae, Suhn-Kee;Lee, Yin-Won
    • 한국균학회소식:학술대회논문집
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    • 2014.10a
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    • pp.15-15
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    • 2014
  • Fusarium graminearum (teleomorph Gibberella zeae) is an important plant pathogen that causes head blight of major cereal crops such as wheat, barley, and rice, as well as causing ear and stalk rot on maize worldwide. Plant diseases caused by this fungus lead to severe yield losses and accumulation of harmful mycotoxins in infected cereals [1]. Fungi utilize spore production as a mean to rapidly avoid unfavorable environmental conditions and to amplify their population. Spores are produced sexually and asexually and their production is precisely controlled. Upstream developmental activators consist of fluffy genes have been known to orchestrate early induction of condiogenesis in a model filamentous fungus Aspergillus nidulans. To understand the molecular mechanisms underlying conidiogenesis in F. graminearum, we characterized functions of the F. graminearum fluffy gene homologs [2]. We found that FlbD is conserved regulatory function for conidiogenesis in both A. nidulans and F. graminearum among five fluffy gene homologs. flbD deletion abolished conidia and perithecia production, suggesting that FlbD have global roles in hyphal differentiation processes in F. graminearum. We further identified and functionally characterized the ortholog of AbaA, which is involved in differentiation from vegetative hyphae to conidia and known to be absent in F. graminearum [3]. Deletion of abaA did not affect vegetative growth, sexual development, or virulence, but conidium production was completely abolished and thin hyphae grew from abnormally shaped phialides in abaA deletion mutants. Overexpression of abaA resulted in pleiotropic defects such as impaired sexual and asexual development, retarded conidium germination, and reduced trichothecene production. AbaA localized to the nuclei of phialides and terminal cells of mature conidia. Successful interspecies complementation using A. nidulans AbaA and the conserved AbaA-WetA pathway demonstrated that the molecular mechanisms responsible for AbaA activity are conserved in F. graminearum as they are in A. nidulans. F. graminearum ortholog of Aspergillus nidulans wetA has been shown to be involved in conidiogenesis and conidium maturation [4]. Deletion of F. graminearum wetA did not alter mycelial growth, sexual development, or virulence, but the wetA deletion mutants produced longer conidia with fewer septa, and the conidia were sensitive to acute stresses, such as oxidative stress and heat stress. Furthermore, the survival rate of aged conidia from the F. graminearum wetA deletion mutants was reduced. The wetA deletion resulted in vigorous generation of single-celled conidia through autophagy-dependent microcycle conidiation, indicating that WetA functions to maintain conidia dormancy by suppressing microcycle conidiation in F. graminearum. In A. nidulans, FlbB physically interacts with FlbD and FlbE, and the resulting FlbB/FlbE and FlbB/FlbD complexes induce the expression of flbD and brlA, respectively. BrlA is an activator of the AbaA-WetA pathway. AbaA and WetA are required for phialide formation and conidia maturation, respectively [5]. In F. graminearum, the AbaA-WetA pathway is similar to that of A. nidulans, except a brlA ortholog does not exist. Amongst the fluffy genes, only fgflbD has a conserved role for regulation of the AbaA-WetA pathway.

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In Silico Analysis of Gene Function and Transcriptional Regulators Associated with Endoplasmic Recticulum (ER) Stress (Endoplasmic recticulum stress와 관련된 유전자기능과 전사조절인자의 In silico 분석)

  • Kim, Tae-Min;Yeo, Ji-Young;Park, Chan-Sun;Rhee, Moon-Soo;Jung, Myeong-Ho
    • Journal of Life Science
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    • v.19 no.8
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    • pp.1159-1163
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    • 2009
  • It has been postulated that endoplasmic (ER) stress is involved in the development of several diseases. However, the detailed molecular mechanisms have not been fully understood. Therefore, we characterized a genetic network of genes induced by ER stress using cDNA microarray and gene set expression coherence analysis (GSECA), and identified gene function as well as several transcription regulators associated with ER stress. We analyzed time-dependent gene expression profiles in thapsigargin-treated Sk-Hep1 using an oligonucleotide expression chip, and then selected functional gene sets with significantly high expression coherence which was processed into functional clusters according to the expression similarities. The functions related to sugar binding, lysosome, ribosomal protein, ER lumen, and ER to golgi transport increased, whereas the functions with mRNA processing, DNA replication, DNA repair, cell cycle, electron transport chain and helicase activity decreased. Furthermore, functional clusters were investigated for the enrichment of regulatory motifs using GSECA, and several transcriptional regulators associated with regulation of ER-induced gene expression were found.

Effects of cultivation ages and modes on microbial diversity in the rhizosphere soil of Panax ginseng

  • Xiao, Chunping;Yang, Limin;Zhang, Lianxue;Liu, Cuijing;Han, Mei
    • Journal of Ginseng Research
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    • v.40 no.1
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    • pp.28-37
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    • 2016
  • Background: Panax ginseng cannot be cultivated on the same land consecutively for an extended period, and the underlying mechanism regarding microorganisms is still being explored. Methods: Polymerase chain reaction and denaturing gradient gel electrophoresis (PCR-DGGE) and BIO-LOG methods were used to evaluate the microbial genetic and functional diversity associated with the P. ginseng rhizosphere soil in various cultivation ages and modes. Results: The analysis of microbial diversity using PCR-DGGE showed that microbial communities were significantly variable in composition, of which six bacterial phyla and seven fungal classes were detected in P. ginseng soil. Among them, Proteobacteria and Hypocreales dominated. Fusarium oxysporum, a soilborne pathogen, was found in all P. ginseng soil samples except R0. The results from functional diversity suggested that the microbial metabolic diversity of fallow soil abandoned in 2003was the maximum and transplanted soil was higher than direct-seeding soil and the forest soil uncultivated P. ginseng, whereas the increase in cultivation ages in the same mode led to decreases in microbial diversity in P. ginseng soil. Carbohydrates, amino acids, and polymers were the main carbon sources utilized. Furthermore, the microbial diversity index and multivariate comparisons indicated that the augmentation of P. ginseng cultivation ages resulted in decreased bacterial diversity and increased fungal diversity, whereas microbial diversity was improved strikingly in transplanted soil and fallow soil abandoned for at least one decade. Conclusion: The key factors for discontinuous P. ginseng cultivation were the lack of balance in rhizosphere microbial communities and the outbreak of soilborne diseases caused by the accumulation of its root exudates.

A Structural Model for Health Promotion and Quality of Life in People with Cancer (건강증진과 삶의 질 구조모형 II-암환자 중심-)

  • 오복자
    • Journal of Korean Academy of Nursing
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    • v.26 no.3
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    • pp.632-652
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    • 1996
  • It has been noted that a genetic alteration of cells influenced by unhealthy lifestyle in addition to a series of other carcinogens increases the incidence of various neoplasmic diseases. Therefore the importance of a lifestyle that minimizes such an impact on health should be emphasized. Since stomach cancer, the most common neoplasmic disease in Korea, is related to personal lifestyle and as there is a possibility of its recurrence, patients with stomach cancer need to lead a healthy lifestyle. Also the quality of life which patients experience is negatively affected by the side effects of treatments and the possibility of recurrence. Therefore an effective nursing intervention to enhance quality of life and encourage healthy lifestyle is needed. The purpose of this study is to provide a basis for nursing intervention strategies to promote health and thus enhance quality of life. A hypothetical model for this purpose was constructed based on Pender's Health Promotion Model and Becker's Health Belief Model, with the inclusion of some influential factors such as hope for quality of life and health promoting behavior. The aims of study were to : 1) evaluate the effectiveness of patient's cognitive-perceptual factors on health promoting behaviors and quality of life ; 2) examine the causal relationships among perceived benefit, perceived barrier, perceived susceptibility and severity, internal locus of control, perceived health status, hope, health concept, self efficacy, self esteem health promoting behaviors & quality of life ; 3) build and test a global hypothetical model. The subjects for this study were 164 patients who were being treated for stomach cancer were approached in the outpatient clinic on a University Hospital. The data from the completed questionnaires were analyzed using Linear Structural Relationships (LISREL). The results of research are as follows : 1) Hypothetical model and the modified model showed a good fit to the empirical data, revealing considerable explanational power for health promoting behaviors(54.9%) and quality of life(87.6%) 2) Self efficacy and hope had significant effects on health promoting behaviors. Of these, hope was affected indirectly through self efficacy and self esteem. 3) Perceived health status, hope and self esteem had significant direct effect on the quality of life. Of these variables, perceived health status was the most essential factor affecting general satisfaction in life. 4) Self-efficacy, as a mediating variable, was positively affected by perceived benefit and hope. 5) Self-esteem, as a mediating variable, was positively affected by perceived health status and hope. 6) Hope was the main variable affecting self efficacy, self esteem, health promoting behaviors and quality of life. The derived model in this study could effectively be used as a reference model for further study and could suggests a direction for nursing practices

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Distributions of HLA Microsatellite Markers and the Linkage Disequilibria between HLA and Microsatellites in Koreans (한국인에서 HLA 유전자 부위 내 Microsatellite 표지자의 분포와 HLA 대립유전자의 유전적 연관성)

  • Jang, Jung-Pil;Choi, Eun-Jeong;Yoon, Ho-Yeul;Choi, Hee-Baeg;Kim, Hee-Je;Cho, Byung-Sik;Min, Woo-Sung;Lee, Jong-Wook;Kim, Chun-Choo;Kim, Tai-Gyu
    • IMMUNE NETWORK
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    • v.7 no.3
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    • pp.149-157
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    • 2007
  • Background: The microsatellites within human leukocyte antigen (HLA) region show considerable polymorphism and strong linkage disequilibrium (LD) with HLA alleles. These microsatellites have been used for genetic analysis including disease mapping to understand susceptibility to autoimmune and infectious diseases. Also, use of microsatellites has recently been proposed as an approach for identifying non-HLA markers within the HLA region that could function as transplantation determinants and for the selection of potential donors for transplantation. Methods: To analyse the frequency of five microsatellites in the Korean population, genotyping for polymorphisms at five microsatellites markers (BAT2, MIB, DQCAR, D6S105 and TNFd) within HLA region was performed on 143 healthy Korean controls. Results: The most frequent genotype shown in healthy Korean controls were BAT2 8 (153 bp, 42.7%), MIB 1 (326 bp, 40.6%), DQCAR 3 (188 bp, 38.5%), D6S105 7 (126 bp, 58.0%) and TNFd 3 (128 bp, 58.0%). And common two-loci haplotypes were found as MIB 1-HLA-B*62 (HF: 10.6%), MIB 6-HLA-B*44 (HF: 7.8%), DQCAR 3-HLA-DRB1*13 (HF: 8.5%), TNFd 5-HLA-B*62 (HF: 7.8%) and D6S105 7-HLA-A*02 (HF: 16.2%). Conclusion: These data might provide useful information on the microsatellites markers with HLA region in Korean population and be helpful in further defining the clinical impact of these microsatellites.

Effect of Gamma Irradiation on the Germination and Growth of Astragalus membranaceus (황기 발아 및 생장에 미치는 감마선 조사 효과)

  • Kim, Dong-Hwi;Park, Hee-Woon;Park, Chun-Geun;Sung, Jung-Sook;Seong, Nak-Sul
    • Korean Journal of Medicinal Crop Science
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    • v.16 no.4
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    • pp.238-241
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    • 2008
  • Astragalus membranaceus have used as a medicinal herb and food in Korea. It is limited its harvest by diseases, pests and climate, therefore the main objective of Astragalus membranaceus breeding is the development of varities with the resistance for them. We used mutation breeding to obtain the genetic resources with the resistance for them. Pocheon, the local variety of Astragalus membranaceus, was treated with different levels Y-ray of $100{\sim}600$ Gy. There were investigated the sensitivity on germination and survival rate, plant height and the other characters. Germination rate from 4th day after sowing was significantly decreased above the 300 Gy as compared to the control. Compared to control, the decrements of survival rate were 32, 43, 63, 72, 84 and 89% for 100, 200, 300, 400, 500 and 600 Gy, respectively. The sensitive characters to Y-ray were plant height, number of branches per plant and survival rate, and the insensitive characters were number of leaves, length of leaf, and width of leaf. Plant height, number of branches per plant and survival rate seemed to be appropriate characters to decide the radiosensitivity, and radiation doses of $200{\sim}300$ Gy ($LD_{50}$) were recommend for mutation breeding.