• Title/Summary/Keyword: Genetic relation

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Comparative Study of p53 Mutation and Oncoprotein Expression in Gastric Adenocarcinoma (미세절편으로 얻은 위암 조직세포에서 p53 유전자의 돌연변이와 종양단백 발현에 관한 연구)

  • Kim Chul;Joo Jai Kyun;Choi Chan;Kim Young Jin
    • Journal of Gastric Cancer
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    • v.3 no.3
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    • pp.145-150
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    • 2003
  • Purpose: The p53 tumor suppressor gene is believed to play a pivotal role in preventing the uncontrolled cellular growth characteristic of cancer. Mutation of the p53 gene represent one of the most common genetic alterations in human cancers, and the acquisition of such defects is strongly associated with tumor progression and metastasis. The aim of this study was to evaluate the relation between p53 immunoreactivity and the mutation of p53 gene in gastric adenocarcinoma obtained by laser capture microscope. Materials and Methods: Formalin fixed paraffin embedded tissue specimens were obtained from 20 patients who underwent surgery for gastric cancer. According to UICC TNM system, 3 of the cases were Ia, 2 cases II, 4 cases IIIa, 5 cases IIIb, and 6 cases IV. Results: Immunohistochemical staining revealed eight cases as negative (less than $10\%$), twelve cases as postive (more than $10\%$). The locations of mutations were as follows; 7 cases had point mutation at exon 4, and 3 cases point mutation at exon 8. There was no mutation at exon 5, 6, 7 and 9. The mutation was observed in 1 case out of 8 p53 oncoprotein negative cases, and 7 cases out of 12 p53 positive cases. The mutation was more common in p53 positive cases (P<0.05), However, there was no significant correlation between p53 mutation observed by DNA sequencing after laser capture microdissection and expression of p53 oncoprotein. Conclusion: These result suggest that he expression of p53 oncoprotein not to be related to the mutation of p53 gene at exons 4 through 9 in gastric cancer.

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PRaDA : Web-based analyzer for Pathway Relation and Disease Associated SNP (웹 기반 단일염기다형성 연관 패스웨이 분석 도구)

  • Yu, Kijin;Park, Soo Ho;Ryu, Keun Ho
    • Journal of Digital Contents Society
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    • v.19 no.9
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    • pp.1795-1801
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    • 2018
  • Genome-Wide Association Study (GWAS) have been used to identify susceptibility genes for complex human diseases and many recent studies succeed to report common genetic factors for various diseases. Unfortunately, it is hard to understand all biological functions and mechanisms around the complex disease with GWAS only although the number of known associated genes with diseases is increased drastically because GWAS is a single locus based approach while not a gene but numerous factors may affect a disease associated pathways. PRaDA generates a combined report with genes, pathways and Gene Ontology (GO) using single nucleotide polymorphism (SNP) analysis output. The PRaDA reports not only directly associated pathways but also functionally related ones for identifying accumulated effects of low p-value SNPs. Through integrated information including indirect functional effects, user could have insights of overall disease mechanisms and markers.

An Educational Analysis on Fraction Concept (분수 개념의 의미 분석과 교육적 시사점 탐구)

  • Jeong Eun-Sil
    • School Mathematics
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    • v.8 no.2
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    • pp.123-138
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    • 2006
  • The fraction concept consists of various meanings and is one of the more abstract and difficult in elementary school mathematics. This study intends to analyze the fraction concept from historical and psychological viewpoints, to examine the current elementary mathematics textbooks by these viewpoints and to seek the direction for improvement of it. Basic ideas about fraction are the partitioning - the dividing of a quantity into subparts of equal size - and about the part-whole relation. So these ideas are heavily emphasized in current textbooks. However, from the learner's point of view, situations related to different meanings of fraction concept draw qualitatively different response from students. So all the other meanings of fraction concept should be systematically represented in elementary mathematics textbooks. Especially based on historico-genetic principle, the current textbooks need the emphasis on the fraction as a measure and on constructing fraction concept by unit fraction as a unit.

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A Comparison of Health Status and Health Behaviors between Korean Americans and Koreans (재미 한국인과 한국인의 건강수준 및 건강행태에 관한 비교)

  • Lee, Yoon-Hyeon
    • Korean Journal of Health Education and Promotion
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    • v.27 no.4
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    • pp.29-38
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    • 2010
  • Objectives: This study purports to comparatively study health condition, health behaviors, and health care utilization of Koreans living in Korea and in the US, and then, to analyze the factors influencing them. Methods: The collected data were analyzed on the basis of the 2005 Korea National Health and Nutrition Examination Survey. Of 25,196 adults aged 19 or older, 7,802 respondents to health behavior survey and 5,526 respondents to physical examination survey. The analyzed data of the Korean Americans were the results of the California Health Interview Survey (CHIS) conducted by the UCLA Center for Health Policy Research in 2005. This study analyzed the responses of 645 known Korean respondents to the 2005 CHIS. Results: In regard to differences in overall health condition between the two groups, it was found that both the male and female Korean Americans thought their own overall health conditions were relatively poor compared to Koreans, especially in relation to diabetes and cardiovascular diseases. For smoking status considered as one of health behavior factors, smokers of the Koreans account for 46.1% which is higher than that of the Korean Americans and the proportion of the Koreans smoking daily is also at least two times higher than that of the Korean Americans. Similarly, for alcohol drinking, the Koreans showed higher drinking experience rate and no less than three times higher drinking frequency than that of Korean Americans. Conclusion: It is expected that this study will contribute greatly to solving health problems among foreign immigrants and overseas Koreans in future by clarifying any differences in health status and health behaviors resulting from sociocultural differences despite of similar genetic factors.

Chronic Lymphocytic Leukemia and Prognostic Factors

  • Mozaheb, Zahra;NazarAbadi, Mohamad Hasan Hasanzadeh;Aghaee, Monavar Afzal
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.7
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    • pp.3009-3013
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    • 2012
  • Background: The clinical course of individual chronic lymphocytic leukemia (CLL) is highly variable and clinical staging systems do not help us to predict if and at what rate there will be disease progression in an individual patient diagnosed with early stage disease. Recently, several important observations related to other prognostic factors including lymphocyte doubling time (LDT), ${\beta}_2$-microglobulin (${\beta}_2$-MG), and percent of smudge cell in peripheral blood smears, cytogenetic and molecular analysis have been made. The aim of this study was to evaluate a range of prognostic factors in our CLL patients. Design and methods: Seventy patients with CLL were enrolled. Prognostic factors of disease including Binet staging, LDT, ${\beta}_2$-MG, ESR, LDH, percent of smudge cell in peripheral blood smear, absolute lymphocyte count, and conventional cytogenetic (CC) analysis were evaluated at diagnosis, and the patients were followed up to determine their outcome. We compared factors with each other and with Binet staging and prognosis. Results: Enrolled patients aged 37-85 years at diagnosis or during follow up. There was no relationship between serum LDH level (P=0.3), ESR (P=0.11), percent of smudge cells in peripheral blood smear (P=0.94), and absolute lymphocyte count (P=0.18) with the stage of disease and prognosis, but the ${\beta}_2$ macroglobulin level (p<0.0001), LDT (p<0.001) had direct and significant relation with staging and outcome. In 19% of patients cytogenetic alteration were seen. Conclusion: The detection of cytogenetic alteration only using the CC method is not sufficient and we need to use FISH, but because FISH study is an expensive method not available in all areas, instead we believe that ${\beta}_2$ MG can be applied in its place as a good prognostic factor for CLL at diagnosis and during follow up. We suggest to add it to Binet staging for prognostic subgrouping of CLL.

Association Between Survivin Gene Polymorphisms and the Susceptibility to Colon Cancer Development in the Turkish Population

  • Yamak, Nesibe;Yaykasli, Kursat Oguz;Yilmaz, Umit;Eroz, Recep;Uzunlar, Ali Kemal;Ankarali, Handan;Sahiner, Cem;Baltaci, Davut
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.20
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    • pp.8963-8967
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    • 2014
  • Background: Colon cancer is one of the most common cancers worldwide. Apoptosis is a necessary physiological process for cell elimination which is very important both cellular homeostasis and cell proliferation and differantiation. Dysregulation can lead to uncontrolled cell growth and tumor development. Survivin, a member of the IAP family, plays a key role in promotion of cell proliferation as well as inhibition of apoptosis in cancer cells. The aim of this study was to investigate whether specific genetic polymorphisms of survivin could be associated with colon cancer development and progression in a Turkish population. Our study is the first to our knowledge to investigate the relationship between colon cancer risk and survivin gene polymorphisms. Materials and Methods: The relation between colon cancer and survivin -31 G/C (rs9904341), -241 C/T (rs17878467) and -625 C/G (rs8073069) polymorphism in promotor site of survivin gene associated with apoptosis was investigated using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: Individuals with -31C allele and CC genotype were found to have a higher risk of developing colon cancer (OR=13.4, p=0.01). The -241 CT genotype considerably increased the risk of colon cancer (OR=12.0, p=0.0001). However, there was no significant varaition of the survivin -625 C/G polymorphism among colon cancer patients and controls in our study. Conclusions: This study provides the first evidence that survivin -31 G/C and -241 C/T SNP significantly contribute to the risk of colon cancer in the Turkish population.

Aberrant DNA Methylation of P16, MGMT, hMLH1 and hMSH2 Genes in Combination with the MTHFR C677T Genetic Polymorphism in Gastric Cancer

  • Xiong, Hai-Lin;Liu, Xun-Qi;Sun, Ai-Hua;He, Ying;Li, Jun;Xia, Yuan
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.5
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    • pp.3139-3142
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    • 2013
  • Associations of P16, MGMT, hMLH1 and hMLH2 with gastric cancer and their relation with MTHFR status in gastric patients who were confirmed with pathological diagnosis were assessed. Aberrant DNA methylation of P16, MGMT, hMLH1 and hMLH2 and polymorphisms of MTHFR C677T were assayed. The proportional DNA hypermethylation in P16, MGMT, hMLH1 and hMLH2 in cancer tissues was significantly higher than in remote normal-appearing tissues. DNA hypermethylation of P16 and MGMT was correlated with the T and N stages. Individuals with homozygotes (TT) of MTHFR C677T had significant risk of hypermethylation of MGMT in cancer tissues [OR (95% CI)= 3.47(1.41-7.93)]. However, we did not find association between polymorphism in MTHFR C677T and risk of hypermethylation in P16, MGMT, hMLH1 and hMLH2 genes either in cancer or remote normal-appearing tissues. Aberrant hypermethylation of P16, MGMT, hMLH1 and hMLH2 could be predictive of gastric cancer.

RT-PCR of Up-Regulated Factors in Abnormally Proliferated Vascular Endothelial Cells by 1, 2-Dimethylhydrazine. (DMH(1,2-Dimethylhydrazine)에 의해 비정상적으로 증식된 혈관 내피세포에서 발현증가 인자들에 대한 RT-PCR의 결과)

  • Kim, Sung-Ho;Kang, Young-Seok;Bae, Yong-Chan;Park, Suk-Young;Nam, Su-Bong
    • Archives of Plastic Surgery
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    • v.32 no.6
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    • pp.689-698
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    • 2005
  • Many studies for verifying angiogenesis have been in progress, especially in the field of abnormal vascular proliferation to explain the pathogenesis and to develop a treatment of several diseases. In our previous experiments, endothelial cell proliferations were induced by DMH stimulation in vitro, and the 177 factors(142 up-regulated and 35 down-regulated factors) were identified. Among the up-regulated factors, 9 substances (EFEMP1, CTGF, CYR61, $ITG{\beta}1$, FHL2, SERPINE1, MYC, PTTG1 and MSH6) were selected, which were related to cell proliferation and showed high signal intensities. The RNA was isolated from HUVECs at the time of 0, 6, 12, 24 hours after the DMH treatment, and RNA of control group HUVECs was also isolated. Genetic information of selected molecules was used to make primer for each, and RT-PCR was performed to analyze both groups. In control and treatment groups, each substance presented variety of manifestation degree according to time differences. EFEMP1, CTGF, CYR61, $ITG{\beta}1$, FHL2 and MYC were related to abnormal vascular proliferation steadily and SERPINE1, PTTG1 and MSH6 were related secondarily. CTGF was related to both normal and abnormal proliferation, but it played a more significant role in abnormal proliferation from earlier stage. EFEMP1, CYR61, $ITG{\beta}1$, FHL2 and MYC were similar to CTGF, although the relation appeared lately. Further study should be performed to analyze the expressions and the interactions of growth factors, which could be utilized in the new therapeutic development.

Current Research Status for Economically Important Candidate Genes and Microarray Studies in Cattle (소의 경제형질 관련 후보 유전자 및 Microarray 연구현황)

  • 유성란;이준헌
    • Journal of Animal Science and Technology
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    • v.48 no.2
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    • pp.169-190
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    • 2006
  • Researches in livestock are currently actively progressing to improve economically important traits using DNA markers. In cattle, the candidate genes have been selected based on their known functions in the target QTL (quantitative trait locus) region in order to identify QTN (quantitative trait nucleotide) for improving productivities. In this review, molecular genetic studies for the meat related traits, one of the major determinant of market prices, have been fully described. Also recent emerging microarray technique for identifying candidate genes in cattle has been discussed. In case of microarray, cDNA microarrays have been replaced to oligoarrays in order to minimize the experimental errors in cattle. Since the first draft of bovine genome sequences was appeared in the public domain, more markers in relation to the quantitative traits will be discovered in a short period of time and genes affecting difficult-to-measure traits, such as disease resistance, can also be selected for marker assisted selection in near future.

A Study for the Expression of Melatonin Receptor Gene and Reproductive Indices in Golden Hamsters Exposed to Photoperiods (골든 햄스터에서 광주기에 따른 멜라토닌 수용체 유전자 발현과 생식 지수들에 관한 연구)

  • Choi, Donchan;Choi, Hyungjae;Lim, Sinae;Park, Changeun
    • Development and Reproduction
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    • v.6 no.1
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    • pp.45-54
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    • 2002
  • Reproductive activity of golden hamsters(Mesocricetus auratus) is regulated by the photoperiod. They are sexually active in summer and inactive in winter. Melatonin, a pineal hormone, has been known to mediate sexual activities in seasonal breeding animals. Melatonin receptor was recently identified in several animal species including hmm. But little has been known about it in relation to the reproductive activities of golden hamsters. By using reverse transcription polymerase chain reaction(RT-PCR) methods, a portion of the melatonin receptor gene(309 nucleotides) was identified in golden hamsters. The nucleotide sequence of the melatonin receptor and the amino acid sequence deduced were compared to those reported in other animals. Melatonin receptors were obviously detected in hypothalamus, pituitary containing pars tuberalis, blood, and spleen. Although the testicular weights and the levels of reproductive hormones were dramatically affected by photoperiods, the expression of melatonin receptor was not markedly changed by them. These results suggest that the action of melatonin in regulating reproduction might be mainly due to the affinity of melatonin receptor rather than the density fi melatonin receptor.

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