• 제목/요약/키워드: Human Genome

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"아시아인 건강을 위한 한국인 게놈" : 한국인 유전체 프로젝트의 상업화 전략 ("The Korean Genome for Asian Health": A Commercialization Strategy of the Korean Genome Projects)

  • 현재환
    • 과학기술학연구
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    • 제19권2호
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    • pp.117-167
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    • 2019
  • 인간 유전체 프로젝트의 초안 발표 이후 여러 한국인 유전체 프로젝트들이 추진되었다. 그 결과 등장한 한국인 유전체를 둘러싼 흥미로운 담론 중 하나는 "한국인 유전체" 서열 분석을 통해 "아시아인 맞춤의학"을 구현할 수 있다는 주장이다. 본 논문은 이를 한국 유전체 학자들이 자국민에 대한 유전체 자료를 상업화하려는 노력 가운데 발전시킨 전략으로 인지하고, 이 "아시아인 건강을 위한 한국인 게놈" 전략이 출현하게 된 배경을 역사적으로 검토한다. 이 글은 한국 유전체 프로젝트들의 전략이 탈식민 국가들에서 빈번하게 발견되는 "유전체 주권"(genome sovereignty) 정책이 2000년대 초반 이후 한국에서 주요 정책 의제로 부상한 아시아 지역주의와 결합하여 등장한 산물이라고 주장한다. 이를 통해 이 연구는 그간 범아시아 SNP 컨소시엄(Pan-Asian Single Nucleotide Polymorphism Consortium)을 중심으로 논의된 유전체학과 아시아인의 구성에 관한 과학기술학 연구가 국소적인 아시아인 관념과 아시아 지역주의를 가진 싱가포르의 경험을 지나치게 일반화해왔음을 지적한다. 이와 함께 한국 유전체학 거버넌스에서 과학기술학자들이 맡을 수 있는 역할에 대해서도 고민해 볼 기회를 제공할 것이다.

Genomic Features of Retroelements and Implications for Human Disease

  • Kim, Heui-Soo
    • Genomics & Informatics
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    • 제3권4호
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    • pp.133-141
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    • 2005
  • Most of the endogenous retroviral genes integrated into the primate genome after the split of New World monkeys in the Oligocene era, approximately 33 million years ago. Because they can change the structure of adjacent genes and move between and within chromosomes they may play important roles in evolutionas well as in many kinds of disease and the creation of genetic polymorphism. Comparative analysis of HERVs (human endogenous retroviruses) and their LTR (long terminal repeat) elements in the primate genomes will help us to understand the possible impact of HERV elements in the evolution and phylogeny of primates. For example, HERV-K LTR and SINE-R elements have been identified that have been subject to recent change in the course of primate evolution. They are specific elements to the human genome and could be related to biological function. The HERV-M element is related to the superfamily of HERV-K and is integrated into the periphilin gene as the truncated form, 5'LTR-gag-pol-3'LTR. PCR and RT-PCR approaches indicated that the insertion of various retrotransposable elements in a common ancestor genome may make different transcript variants in different primate species. Examination of the HERV-W elementrevealed that env fragments were detected on human chromosomes 1, 3-7, 12, 14, 17, 20, and X, whilst the pol fragments were detected on human chromosomes 2-8, 10-15, 20, 21, X, and Y. Bioinformatic blast search showed that almost full-length of the HERV-W family was identified on human chromosomes 1-8, 11-15, 17, 18, 21, and X. Expression analysis of HERV-W genes (gag, pol, and env) in human tissues by RT-PCR indicated that gag and pol were expressed in specific tissues, whilst env was constituitively expressed in all tissues examined. DNA sequence based phylogenetic analysis indicated that the gag, pol and env genes have evolved independently during primate evolution. It will thus be of considerable interest to expand the current HERV gene information of various primates and disease tissues.

Effects of Storage Buffer and Temperature on the Integrity of Human DNA

  • Kim, Yun-Tae;Choi, Eun-Hee;Son, Bo-Kyoung;Seo, Eun-Hee;Lee, Eun-Kyoung;Ryu, Je-Kwon;Ha, Gi-Won;Kim, Jin-Seon;Kwon, Mi-Ran;Nam, Jae-Hoon;Kim, Young-Jin;Lee, Kyoung-Ryul
    • 대한임상검사과학회지
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    • 제44권1호
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    • pp.24-30
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    • 2012
  • In this study, we have examined the effects of the storage time and temperature on DNA quality and have also studied the effects of the hydration buffer in which DNA is dissolved. This study was performed using 160 human blood samples collected with informed consent from 2007 to 2008 in the hospital where this cohort study was performed. The DNA extracted was dissolved using distilled water (DW) or Tris-EDTA (TE) buffer, and stored in the deep freezer or refrigerator for up to 10 weeks at $-70^{\circ}C$, $-20^{\circ}C$, $4^{\circ}C$, and $25^{\circ}C$, respectively. DNA integrity was determined by the degree of smearing of DNA on the gel. After four weeks, all of the 20 DNA samples dissolved in DW and stored at $25^{\circ}C$ were entirely degraded. After 10 weeks, 6 of the 20 DNA samples dissolved in TE buffer and stored at $25^{\circ}C$ were fairly degraded, and 4 of the 20 DNA samples dissolved in DW and stored at $4^{\circ}C$ were fairly degraded. The 20 DNA samples dissolved in TE buffer and stored at $4^{\circ}C$ were stable for 10 weeks. DNA samples stored at $-20^{\circ}C$ and $-70^{\circ}C$ did not appear to degrade in either DW or TE buffer, even at the 10-week point. We suggest that TE buffer should use for DNA elution, in order to protect against degradation and to preserve DNA for a long period of time, and the samples should be stored at $-20^{\circ}C$ or $-70^{\circ}C$.

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Genome of Bifidobacteria and Carbohydrate Metabolism

  • Bondue, Pauline;Delcenserie, Veronique
    • 한국축산식품학회지
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    • 제35권1호
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    • pp.1-9
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    • 2015
  • In recent years, the knowledge about bifidobacteria has considerably evolved thanks to recent progress in molecular biology. The analysis of the whole genome sequences of 48 taxa of bifidobacteria offers new perspectives for their classification, especially to set up limit between two species. Indeed, several species are presenting a high homology and should be reclassified. On the other hand, some subspecies are presenting a low homology and should therefore be reclassified into different species. In addition, a better knowledge of the genome of bifidobacteria allows a better understanding of the mechanisms involved in complex carbohydrate metabolism. The genome of some species of bifidobacteria from human but also from animal origin demonstrates high presence in genes involved in the metabolism of complex oligosaccharides. Those species should be further tested to confirm their potential to metabolize complex oligosaccharides in vitro and in vivo.

Bridging a Gap between DNA sequences and expression patterns of genes

  • Morishita, Shinichi
    • 한국생물정보학회:학술대회논문집
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    • 한국생물정보시스템생물학회 2000년도 International Symposium on Bioinformatics
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    • pp.69-70
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    • 2000
  • The completion of sequencing human genome would motivate us to map millions of human cDNAs onto the unique ruler "genome sequence", in order to identify the exact address of each cDNA together with its exons, its promoter region, and its alternative splicing patterns. The expression patterns of some cDNAs could therefore be associated with these precise gene addresses, which further accelerate studies on mining correlations between motifs of promoters and expressions of genes in tissues. Towards the realization of this goal, we have developed a time-and-space efficient software named SQUALL that is able to map one cDNA sequence of length a few thousand onto a long genome sequence of length thirty million in a couple of minutes on average. Using SQUALL, we have mapped twenty thousand of our Bodymap (http://bodymap.ims.u-tokyo.ac.jp) cDNAs onto the genome sequences of Chr.21st and 22nd. In this talk, I will report the status of this ongoing project.

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Recent Progress of Genome Study for Anaplastic Thyroid Cancer

  • Lee, Jieun;Hwang, Jung-Ah;Lee, Eun Kyung
    • Genomics & Informatics
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    • 제11권2호
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    • pp.68-75
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    • 2013
  • Anaplastic thyroid cancer (ATC) belongs to the most malignant and rapidly progressive human thyroid cancers and its prognosis is very poor. Also, it shows high resistance to cancer treatments, so that effective treatment for ATC has not been found to date, and virtually all patients terminate their life rapidly after diagnosis. Although targeted treatment of genetic alterations has emerged as an extremely promising approach to human cancers, such as BRAF in metastatic melanoma, it remains unclear that how commonly genomic alterations are influenced in ATC tumorigenesis. In recent years, genome wide approaches have been exploited to find genetic alterations associated with complex diseases, including cancer. Here, we reviewed the comprehensive genetic alterations in ATC and recent approaches in the context of identifying genomic alterations associated with ATC. Since surprisingly few reports have been published on the genome wide study of ATC, this review puts emphasis on the urgent needs of genomic research for the prevention and treatment of ATC.

'포스트 게놈' 시대에서 간호학의 과제 (Nursing Genetics in 'Postgenome' Era)

  • 최스미
    • Journal of Korean Biological Nursing Science
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    • 제7권1호
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    • pp.5-14
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    • 2005
  • Since the Human Genome Project(HGP) has begun in the mid 1980s, the sequencing of the human genome has been finally completed in 2001. The knowledge developed from the HGP has revolutionized how health care professionals think about patient care, mandating a new paradigm of patient care in totally inconceivable ways from the past. For instance, the patients at risk for disease can be identified early enough for intervention; the medicine can be tailored for individual patients based on their own genetic information ; the gene therapy could be a common procedure in the near future. The advancement in genetics, therefore, requires the shift of paradigm not only in nursing education, practice, but also in nursing research. It is attempted, in this article to introduce briefly the basic knowledge of genetics, the pharmacogenomics, and the overview of national genetic research initiated and organized by the Center for Functional Analysis of Human Genome in Korea. The current state of nursing genetic knowledge and its implications on nursing education, practice, and research has examined. Furthermore, the visions and the opportunities for nursing science and practice to participate in this genetic revolution were also explored.

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유전체 코호트 연구를 위한 대용량 염기서열 분석 (High Throughput Genotyping for Genomic Cohort Study)

  • 박웅양
    • Journal of Preventive Medicine and Public Health
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    • 제40권2호
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    • pp.102-107
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    • 2007
  • Human Genome Project (HGP) could unveil the secrets of human being by a long script of genetic codes, which enabled us to get access to mine the cause of diseases more efficiently. Two wheels for HGP, bioinformatics and high throughput technology are essential techniques for the genomic medicine. While microarray platforms are still evolving, we can screen more than 500,000 genotypes at once. Even we can sequence the whole genome of an organism within a day. Because the future medicne will focus on the genetic susceptibility of individuals, we need to find genetic variations of each person by efficient genotyping methods.