• 제목/요약/키워드: genomic polymorphism

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Topography of Post-Genomic Researches in Korea: Governance and Institutional Polymorphism (포스트게놈 시대의 국내 유전체연구 현황: 한국적 거버넌스의 제도적 다형성 연구)

  • Lee, June-Seok
    • Journal of Science and Technology Studies
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    • v.15 no.1
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    • pp.145-180
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    • 2015
  • Human Genome Project was a big science done by United States, U.K., France, China, Germany and Japan. But in Korea HGP was not constructed because of lack of governmental funding and failure to attract relevant actors' attention in spite of small voices from early genome researchers and some family members of patients with incurable diseases. This article does not argue that HGP in Korea was an undone science, a concept claimed by Scott Frickel, et al. Instead, it shows the historical fact that HGP was not constructed in Korea in 1990s and analyzes how genomic researches could become possible in Korea in the post-genomic age using the framework of triple-helix. In Korea, researchers have constructed hybrid networks and organizations that intermingles laboratories of university, industry, and government to conduct genomic researches which requires a lot of financial funding. This structure is different from the entrepreneurial university seen in developed countries such as the United States. Using two examples, this article shows that founding a start-up company by university researchers was not an option as in the United States, but a necessity in order to obtain enough funding to conduct genomic researches in Korea. Otherwise, researchers in Korean universities had to form hybrid networks with government to obtain small amount of funds to conduct researches. I argue that this phenomenon shows multifaceted characteristics of institutional structures regarding genomic researches in Korea.

The +1316 T/T Genotype in the Exon 3 of Uncoupling Protein Gene is Associated with Daily Percent Lay in Korean Native Chicken (한국 재래 닭의 Uncoupling Protein 유전자 Exon 3에서의 +1316 T/T 유전자형이 산란율에 미치는 효과 분석)

  • Oh J. D.;Lee J. H.;Hong Y. S.;Lee S. J.;Lee S. G.;Kong H. S.;Sang B. D.;Choi C. H.;Cho B. W.;Jeon G. J.;Lee H. K.
    • Korean Journal of Poultry Science
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    • v.32 no.4
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    • pp.239-244
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    • 2005
  • Uncoupling protein(UCP) is expressed exclusively in brown adipose tissue(BAT). It is blown to uncouple phosphorylation from oxidation and hence to be involved in energy metabolism and heat production, especially under cold exposure. In the present study, we identified single nucleotide polymorphism(SNP) in exon 3 of avUCP gene in Korean native chicken(KNC) population. It was detected a SNP T+1316C in exon 3 of avUCP gene by sequence analysis in KNC population. For PCR-RFLP analysis of the SNP T+1316C, used by AP III restriction enzyme. The result of PCR-RFLP analysis showed that allele T has two fragments of 255 bp and 86 bp, and allele C has only one fragment of 341 bp. The genotype frequencies were TT type, 0.7875; TC type, 0.1875 and CC type, 0.025; and the frequencies of allele T and C were 0.881 and 0.119, respectively in KNC population. Next study was conducted to investigate the effect of the SNP in avUCP gene on economic traits in the KNC population. The TT genotype had a significant higher daily percent lay(84.61) than CC genotype(p<0.05) in KNC population. This study may be useful for genetic studies of avCUP gene and selection on daily percent lay of KNC.

Development of Restriction Fragment Length Polymorphism(RELP) Markers in Silkworm, Bombyx mori (누에 RFLP(제한단편 다형현상)마커 개발)

  • 고승주;김태산;이영승;황재삼;이상몽
    • Korean journal of applied entomology
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    • v.36 no.1
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    • pp.96-104
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    • 1997
  • A silkworm Bombyx mori genomic DNA library was constructed from polyphagous J111 strain and unpolyphagous $C_3$ strain to develop the genomic study by DNA makers. Genomic DNAs of two strains were digested with restriction enzyme EcoRI and ligated into pUC18. The ligated plasmids were transferred into E. coli host strain DH5$\alpha$. When the genomic DNAs were hybridized with insert DNAs from transformant, could be categorized from hybridization patterns to three groups as high repetitive sequence, moderately repetitive sequence, and low-copy number sequences. A total of 219 clones containing single or low-copy number sequence inserts were examined for any polymorphisms between two strains of J111 and $C_3$. Forty six clones showed RFLPs and 10 of these clones were used as a probe of analysis of $F_2$ population derived from crossing between J111 and $C_3$ strain. The genetic inheritance tested with each clones will be important tools to construct the genetic map of the silkworm, Bombyx mori.

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No Association between PIK3CA Polymorphism and Lung Cancer Risk in the Korean Population

  • Sung, Jae-Sook;Park, Kyong-Hwa;Kim, Seung-Tae;Seo, Jae-Hong;Shin, Sang-Won;Kim, Jun-Suk;Kim, Yeul-Hong
    • Genomics & Informatics
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    • v.8 no.4
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    • pp.194-200
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    • 2010
  • The PIK3CA gene, oncogenic gene located on human chromosome 3q26.3, is an important regulator of cell proliferation, death, motility and invasion. To evaluate the role of PIK3CA gene in the risk of Korean lung cancer, genotypes of the PIK3CA polymorphisms (rs11709323, rs2699895, rs3729679, rs17849074 and rs1356413) were determined in 423 lung cancer patients and 443 normal controls. Statistical analyses revealed that the genotypes and haplotypes in the PIK3CA gene were not significantly associated with the risk of lung cancer in the Korean population, suggesting that these PIK3CA polymorphisms do not contribute to the genetic susceptibility to lung cancer in the Korean population.

Applied Computational Tools for Crop Genome Research

  • Love Christopher G;Batley Jacqueline;Edwards David
    • Journal of Plant Biotechnology
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    • v.5 no.4
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    • pp.193-195
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    • 2003
  • A major goal of agricultural biotechnology is the discovery of genes or genetic loci which are associated with characteristics beneficial to crop production. This knowledge of genetic loci may then be applied to improve crop breeding. Agriculturally important genes may also benefit crop production through transgenic technologies. Recent years have seen an application of high throughput technologies to agricultural biotechnology leading to the production of large amounts of genomic data. The challenge today is the effective structuring of this data to permit researchers to search, filter and importantly, make robust associations within a wide variety of datasets. At the Plant Biotechnology Centre, Primary Industries Research Victoria in Melbourne, Australia, we have developed a series of tools and computational pipelines to assist in the processing and structuring of genomic data to aid its application to agricultural biotechnology resear-ch. These tools include a sequence database, ASTRA, for the processing and annotation of expressed sequence tag data. Tools have also been developed for the discovery of simple sequence repeat (SSR) and single nucleotide polymorphism (SNP) molecular markers from large sequence datasets. Application of these tools to Brassica research has assisted in the production of genetic and comparative physical maps as well as candidate gene discovery for a range of agronomically important traits.

Genetic Similarity Frequency and DNA Polymorphism between Common Carp and Israeli Carp Using Polymerase Chain Reaction-Random Amplified Polymorphic DNAs

  • Yoon, Jong-Man;Park, Min-Soon;Kim, Young-Gill
    • Proceedings of the Korean Society of Fisheries Technology Conference
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    • 2001.05a
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    • pp.334-335
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    • 2001
  • Common carp (Cyprinus carpio) and Israeli carp(C. carpio) samples were obtained from a aquaculture facility in the Kunsan National University, Korea. Genomic DNA was isolated from the common carp and Israeli carp representing genetic characteristics and genomic polymorphisms by polymerase chain reaction amplification of DNA as arbitrary primers. There were observed a total of 90 species-specific genetic markers within Israeli carp. On average, each random RAPD primer produced amplified 7.9 products from 1 to 17 bands. An average genetic similarity within Israeli carp showed -.60$\pm$0.05. The average level of bandsharing was some 0.57$\pm$0.03 between common carp and Israeli carp. Accordingly, two carp species were genetically a little distant. The electrophoretic analysis of PCR-RAPD proudcts showed high levels of variation between two fish species. The RAPD polymorphism generated by primer may be used as a genetic marker for species or lines identification in important aquacultural carp.

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A genome-wide association study on growth traits of Korean commercial pig breeds using Bayesian methods

  • Jong Hyun Jung;Sang Min Lee;Sang-Hyon Oh
    • Animal Bioscience
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    • v.37 no.5
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    • pp.807-816
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    • 2024
  • Objective: This study aims to identify the significant regions and candidate genes of growth-related traits (adjusted backfat thickness [ABF], average daily gain [ADG], and days to 90 kg [DAYS90]) in Korean commercial GGP pig (Duroc, Landrace, and Yorkshire) populations. Methods: A genome-wide association study (GWAS) was performed using single-nucleotide polymorphism (SNP) markers for imputation to Illumina PorcineSNP60. The BayesB method was applied to calculate thresholds for the significance of SNP markers. The identified windows were considered significant if they explained ≥1% genetic variance. Results: A total of 28 window regions were related to genetic growth effects. Bayesian GWAS revealed 28 significant genetic regions including 52 informative SNPs associated with growth traits (ABF, ADG, DAYS90) in Duroc, Landrace, and Yorkshire pigs, with genetic variance ranging from 1.00% to 5.46%. Additionally, 14 candidate genes with previous functional validation were identified for these traits. Conclusion: The identified SNPs within these regions hold potential value for future marker-assisted or genomic selection in pig breeding programs. Consequently, they contribute to an improved understanding of genetic architecture and our ability to genetically enhance pigs. SNPs within the identified regions could prove valuable for future marker-assisted or genomic selection in pig breeding programs.

Genomic Polymorphisms of Genome DNA by Polymerase Chain Reaction-RAPD Analysis Using Arbitrary Primers in Rainbow Trout (PCR-RAPD 기법에 의한 무지개송어 Genome DNA 의 다형현상)

  • Yoon, J.M.
    • Korean Journal of Animal Reproduction
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    • v.23 no.4
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    • pp.303-311
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    • 1999
  • Nuclear DNA was isolated from the sperm cells representing genetic characteristics and genomic polymorphisms of rainbow trout by polymerase chain reaction(PCR) amplification of DNA using arbitrary primers. Genomic DNA fingerprints were generated from rainbow trout sperm DNA by polymerase chain reaction amplification using 20 arbitrary decamers as primers. Out of these primers, 4 generated 17 highly reproducible RAPD markers, producing almost six polymorphic bands per primers. Four of 6 primers tested generated amplified fragments which were polymorphic between different individuals. Polymorphic DNA fragments were reproducibly amplified from independent DNA preparations made from individuals. Rainbow trout was distinctly observed 3 specific DNA markers (2. 3, 2.0 and 1.3kb) in bandsharing. Individual fragments generated using the same arbitrary primer, demonstrated that a single primer detected at least three independent genomic polymorphisms in rainbow trout sperm DNA. The RAPD polymorphism generated by this primer may be used as a genetic marker for individual identification The RAPD-PCR technique has been shown to reveal informative polymorphism in many species of fish. The present results demonstrate that RAPD markers are abundant, reproducible and provide a basis for future gene mapping and MAS in these important aquaculture species using RAPD polymorphic markers. It is concluded that RAPD polymorphisms are useful as genetic markers for fish breed differentiation.

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Use of Microsatellite Markers Derived from Genomic and Expressed Sequence Tag (EST) Data to Identify Commercial Watermelon Cultivars (수박 시판 품종의 식별을 위한 Genomic과 Expressed Sequence Tag (EST)에서 유래된 Microsatellite Marker의 이용)

  • Kwon, Yong-Sham;Hong, Jee-Hwa;Kim, Du-Hyun;Kim, Do-Hoon
    • Horticultural Science & Technology
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    • v.33 no.5
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    • pp.737-750
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    • 2015
  • This study was carried out to construct a DNA profile database for 102 watermelon cultivars through the comparison of polymorphism level and genetic relatedness using genomic microsatellite (gMS) and expressed sequence tag (EST)-microsatellite (eMS) markers. Sixteen gMS and 10 eMS primers showed hyper-variability and were able to represent the genetic variation within 102 watermelon cultivars. With gMS markers, an average of 3.63 alleles per marker were detected with a polymorphism information content (PIC) value of 0.479, whereas with eMS markers, the average number of alleles per marker was 2.50 and the PIC value was 0.425, indicating that eMS detects a lower polymorphism level compared to gMS. Cluster analysis and Jaccard's genetic distance coefficients using the unweighted pair group method with arithmetic average (UPGMA) based on the gMS, eMS, and combined data sets showed that 102 commercial watermelon cultivars could be categorized into 6 to 8 major groups corresponding to phenotypic traits. Moreover, this method was sufficient to identify 78 out of 102 cultivars. Correlation analysis with Mantel tests for those clusters using 3 data sets showed high correlation ($r{\geq}0.80$). Therefore, the microsatellite markers used in this study may serve as a useful tool for germplasm evaluation, genetic purity assessment, and fingerprinting of watermelon cultivars.