• Title/Summary/Keyword: human materials and human genome information

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Moral Debate on the Use of Human Materials and Human Genome Information in Personalized Genomic Medicine: - A Study Focusing on the Right to be Forgotten and Duty to Share - (유전체맞춤의료를 둘러싼 인체유래물 및 인간유전체 정보의 도덕성 논쟁 - 잊혀질 권리와 공유할 의무를 중심으로 -)

  • JEONG, Chang Rok
    • The Korean Society of Law and Medicine
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    • v.17 no.1
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    • pp.45-105
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    • 2016
  • The purposes of this study is to debate the duty to share and right to be forgotten of human materials and human genome information in modern personalized medicine. This study debates the use of human materials and human genome information in modern personalized medicine from the perspectives of the duty to share and right to be forgotten. The arguments are based on personal and community aspects. In general, human genome information is considered the personal property of an individual. Nevertheless, on thinking carefully, we can understand that human materials and human genome information have both personal and community aspects. In this study, cases are examined including a HeLa cell, Guaymi woman cell strain, and Hagahai man cell, to support various debates an genetic information for database construction in personalized medicine. Finally, using moral theories, this study attempts to synthesize the dialectics of the duty to share and right to forget regarding the use of human materials and human genome information in medicine.

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Identification of Human LRG1 Polymorphisms and Their Genetic Association with Rheumatoid Arthritis

  • Jin, Eun-Heui;Chae, Soo-Cheon;Shim, Seung-Cheol;Kim, Hwan-Gyu;Chung, Hun-Taeg
    • Genomics & Informatics
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    • v.6 no.2
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    • pp.77-83
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    • 2008
  • Human leucine-rich alpha-2-glycoprotein 1 (LRG1) was first identified as a trace protein in human serum. The primary sequence of LRG1 includes repeated leucine residues and putative membrane-binding domains. But, there is no published information on the genetic variation of this gene. In this study, LRG1 was identified as one of several upregulated genes in RA patients. We examined the expression levels of LRG1 between an RA patient and a healthy control by RT-PCR and validated that LRG1 was highly expressed in RA patients compared with controls. We identified the possible variation sites and single nucleotide polymorphisms (SNPs) in the human LRG1 gene by direct sequencing and analyzed the association of genotype and allele frequencies between RA patients and a control group without RA. We further investigated the relationship between these polymorphisms and the level of RF or anti-CCP in RA patients. We identified a total of three SNPs(g.-678A>G, g.-404C>T and g.1427T>C) and two variation sites (g.-1198delA and g.-893delA) in the LRG1 gene. Our results suggest that polymorphisms of the LRG1 gene are not associated with the susceptibility of RA in the Korean population.

Loss of Heterozygosity at the Calcium Regulation Gene Locus on Chromosome 10q in Human Pancreatic Cancer

  • Long, Jin;Zhang, Zhong-Bo;Liu, Zhe;Xu, Yuan-Hong;Ge, Chun-Lin
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.6
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    • pp.2489-2493
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    • 2015
  • Background: Loss of heterozygosity (LOH) on chromosomal regions is crucial in tumor progression and this study aimed to identify genome-wide LOH in pancreatic cancer. Materials and Methods: Single-nucleotide polymorphism (SNP) profiling data GSE32682 of human pancreatic samples snap-frozen during surgery were downloaded from Gene Expression Omnibus database. Genotype console software was used to perform data processing. Candidate genes with LOH were screened based on the genotype calls, SNP loci of LOH and dbSNP database. Gene annotation was performed to identify the functions of candidate genes using NCBI (the National Center for Biotechnology Information) database, followed by Gene Ontology, INTERPRO, PFAM and SMART annotation and UCSC Genome Browser track to the unannotated genes using DAVID (the Database for Annotation, Visualization and Integration Discovery). Results: The candidate genes with LOH identified in this study were MCU, MICU1 and OIT3 on chromosome 10. MCU was found to encode a calcium transporter and MICU1 could encode an essential regulator of mitochondrial $Ca^{2+}$ uptake. OIT3 possibly correlated with calcium binding revealed by the annotation analyses and was regulated by a large number of transcription factors including STAT, SOX9, CREB, NF-kB, PPARG and p53. Conclusions: Global genomic analysis of SNPs identified MICU1, MCU and OIT3 with LOH on chromosome 10, implying involvement of these genes in progression of pancreatic cancer.

Alu Hypomethylation in Smoke-Exposed Epithelia and Oral Squamous Carcinoma

  • Puttipanyalears, Charoenchai;Subbalekha, Keskanya;Mutirangura, Apiwat;Kitkumthorn, Nakarin
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.9
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    • pp.5495-5501
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    • 2013
  • Background: Alu elements are one of the most common repetitive sequences that now constitute more than 10% of the human genome and potential targets for epigenetic alterations. Correspondingly, methylation of these elements can result in a genome-wide event that may have an impact in cancer. However, studies investigating the genome-wide status of Alu methylation in cancer remain limited. Objectives: Oral squamous cell carcinoma (OSCC) presents with high incidence in South-East Asia and thus the aim of this study was to evaluate the Alu methylation status in OSCCs and explore with the possibility of using this information for diagnostic screening. We evaluated Alu methylation status in a) normal oral mucosa compared to OSCC; b) peripheral blood mononuclear cells (PBMCs) of normal controls comparing to oral cancer patients; c) among oral epithelium of normal controls, smokers and oral cancer patients. Materials and Methods: Alu methylation was detected by combined bisulfite restriction analysis (COBRA) at 2 CpG sites. The amplified products were classified into three patterns; hypermethylation ($^mC^mC$), partial methylation ($^uC^mC+^mC^uC$), and hypomethylation ($^uC^uC$). Results: The results demonstrate that the $%^mC^mC$ value is suitable for differentiating normal and cancer in oral tissues (p=0.0002), but is not significantly observe in PBMCs. In addition, a stepwise decrease in this value was observed in the oral epithelium from normal, light smoker, heavy smoker, low stage and high stage OSCC (p=0.0003). Furthermore, receiver operating characteristic (ROC) curve analyses demonstrated the potential of combined $%^mC$ or $%^mC^mC$ values as markers for oral cancer detection with sensitivity and specificity of 86.7% and 56.7%, respectively. Conclusions: Alu hypomethylation is likely to be associated with multistep oral carcinogenesis, and might be developed as a screening tool for oral cancer detection.

A Study on Bio Art in Modification and Hybrid of Vegetables (식물의 변형과 혼성을 이용한 바이오아트 연구)

  • Jeon, Hyesook
    • The Journal of Art Theory & Practice
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    • no.15
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    • pp.137-165
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    • 2013
  • The prefix 'bio' with the meaning of 'life,' has been used for biotechnology, biochemistry, bioengineering, biomedicine, bioethics, bio-information as well as 'bio art' since 1990s. Bio art is an art as life itself and a kind of new direction in contemporary art that manipulates the processes of life. Bio artists use the properties of life and materials as scientists in laboratory of biology, and change organisms within their own species, of invents life with new characteristics. Technologically and socio-culturally, bio art has been connected with bioengineering. This essay is on the bio art that use vegetables, and on the specified gaze of so-called 'Sci-Artists.' Not only the genetically modified vegetables like works of George Gessert, Ackroyd & Harvey, and Eduardo Kac, but also the works made from the critical viewpoint like those of Paul Vanouse, Natalie Jeremijenko, and Amy Youngs, have 'the molecular gaze'(Suzanne Anker and Dorothy Nelkin's concept) of the genetic age in their art works. As the art history have showed, artists' gazes have insights about social problems that surround us. Bioartists' gazes reveal their insights about social and ethical problems, possibly concealed by science itself. Those problems are about results from practical discoveries of the sequencing of the genome, genetic engineering, cloning and reproduction of human and animals, body transformation, and the commercialization of cell and genes etc. We can find the significance of bioart in the molecular gaze about those problems, and we can rethink the identity of human, the reception of social influences from bio-technology and medicine.

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