• 제목/요약/키워드: Genetic screening

검색결과 501건 처리시간 0.024초

한국인 두경부암 환자에서 CYP1A1 및 GSTM1 유전자 다형성 분석에 의한 유전적 감수성에 대한 연구 (Cytochrome P4501A1 and Glutathione S-transferase M1 Polymorphism and Individual Genetic Susceptibility to the Korean head and neck Cancer patients)

  • 김현준;채현기;태경;공구
    • 한국환경성돌연변이발암원학회지
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    • 제20권1호
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    • pp.26-33
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    • 2000
  • Genetic polymorphisms of metabolizing enzymes to chemical carcinogens have been recognized as a major important host factors in human cancers. To datermine the frequencies of genotypes of CYP1A1 and GSTM1 metabolizing enzymes in healthy controls and head and neck cancer patients in Korean and to identify the relative high risk genotypes of these metabolizing enzymes to head and neck cancer, we have analyzed 133 head and neck cancer patients and corresponding healthy controls matched in age and sex using polymerase chain reaction-restriction fragment length polymorphism (PCR-RELP). In analysis of CYP1A1, the Val/Val genotype of exon 7 polymorphism and m2/m2 genotype of Msp 1 polymorphism were associated with higher relative risks to head and neck cancers (Odds ratio : 2.34, 95% CI : 0.79-6.96 and 1.27, 95% CI : 0.59-2.73, respectively). In combined genotyping of CYP1A1 and GSTMI enzymes polymorphisms, the patients with Val/Val ad GSTM1(-), and m1/m21 and GSTM1(-) combined genotypes had higher relative risks than the patients with each base genotype of combined genotypes (Odds ratio : 4.57, 95% CI : 0.5-41.25 and 1.65, 95% CI L 0.73-3.77, respectively). These results sugget the combined genotyping of metabolizing enzymes could be useful for predicting individual genetic susceptibility and screening the high risk subpopulation to head and neck cancer in Korea.

Screening of Promoters from Metagenomic DNA and Their Use for the Construction of Expression Vectors

  • Han, Sang-Soo;Lee, Jin-Young;Kim, Won-Ho;Shin, Hyun-Jae;Kim, Geun-Joong
    • Journal of Microbiology and Biotechnology
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    • 제18권10호
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    • pp.1634-1640
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    • 2008
  • This study was focused on the screening of valuable genetic resources, such as promoters from metagenome, and describes a promoter trapping system with a bidirectional probe concept, which can select promoters or operons from various biological resources including metagenomic DNA. A pair of reporters, GFP and DsRed, facing the opposite direction without promoters, is an effective system that can function regardless of the direction of inserted promoters. The feasibility of this system was tested for the isolation of constitutively expressed promoters in E. coli from a soil metagenome, resulting in a potential pool of various promoters for practical application. The analyses of structural organization of the trapped genes demonstrated that constitutively expressible promoters in E. coli were broadly distributed within the metagenome, and suggested that some promoters were useful for the construction of expression vectors. Based on these observations, three constitutive promoters were employed in the expression vector system and their potentials for practical application were evaluated in terms of expression level, protein solubility, and effects on host growth.

Computer-Aided Drug Discovery in Plant Pathology

  • Shanmugam, Gnanendra;Jeon, Junhyun
    • The Plant Pathology Journal
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    • 제33권6호
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    • pp.529-542
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    • 2017
  • Control of plant diseases is largely dependent on use of agrochemicals. However, there are widening gaps between our knowledge on plant diseases gained from genetic/mechanistic studies and rapid translation of the knowledge into target-oriented development of effective agrochemicals. Here we propose that the time is ripe for computer-aided drug discovery/design (CADD) in molecular plant pathology. CADD has played a pivotal role in development of medically important molecules over the last three decades. Now, explosive increase in information on genome sequences and three dimensional structures of biological molecules, in combination with advances in computational and informational technologies, opens up exciting possibilities for application of CADD in discovery and development of agrochemicals. In this review, we outline two categories of the drug discovery strategies: structure- and ligand-based CADD, and relevant computational approaches that are being employed in modern drug discovery. In order to help readers to dive into CADD, we explain concepts of homology modelling, molecular docking, virtual screening, and de novo ligand design in structure-based CADD, and pharmacophore modelling, ligand-based virtual screening, quantitative structure activity relationship modelling and de novo ligand design for ligand-based CADD. We also provide the important resources available to carry out CADD. Finally, we present a case study showing how CADD approach can be implemented in reality for identification of potent chemical compounds against the important plant pathogens, Pseudomonas syringae and Colletotrichum gloeosporioides.

Evaluating the results of the Momguard noninvasive prenatal test

  • Hu, Hae-Jin;Kwon, Young-Jun;Oh, Mijin;Kim, Jihun;Cho, Dae-Yeon;Seo, Dong-Hee
    • Journal of Genetic Medicine
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    • 제12권2호
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    • pp.96-99
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    • 2015
  • Purpose: To evaluate the performance of the Momguard noninvasive prenatal test by tracing the 'screen positive' results based on preliminary samples from Korean cohorts. Materials and Methods: This preliminary study is based on data collected by the LabGenomics Clinical Laboratory (Seongnam, Korea) with informed consent. Only pregnant women who underwent both the Momguard test and karyotyping were included in this study. Momguard test results were compared with those of the karyotyping analysis. Results: Among the 38 cases with 'screen positive' results by Momguard, 30 cases also had karyotyping results available. In three trisomy (T) 18 and three T13 cases, the Momguard results were concordant with the karyotyping results. For the T21 cases, except for one case belonging to the mid-risk zone, Momguard results from 23 out of 24 cases matched the karyotyping results. Conclusion: Momguard is a highly reliable screening tool for detecting T13, T18, and T21 cases in independent Korean cohort samples.

Rapid Screening of Apple mosaic virus in Cultivated Apples by RT-PCR

  • Ryu, Ki-Hyun;Park, Sun-Hee
    • The Plant Pathology Journal
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    • 제19권3호
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    • pp.159-161
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    • 2003
  • The coat protein (CP) gene of Apple mosaic virus (ApMV), a member of the genus Ilarvirus, was selected for the design of virus-specific primers for amplification and molecular detection of the virus in cultivated apple. A combined assay of reverse transcription and polymerase chain reaction (RT-PCR) was performed with a single pair of ApMV-specific primers and crude nucleic acid extracts from virus-infected apple for rapid detection of the virus. The PCR product was verified by restriction mapping analysis and by sequence determination. The lowest concentration of template viral RNA required for detection was 100 fg. This indicates that the RT-PCR for detection of the virus is a 10$^3$times more sensitive, reproducible and time-saving method than the enzyme-linked immunosorbent assay. The specificity of the primers was verified using other unrelated viral RNAs. No PCR product was observed when Cucumber mosaic virus (Cucumovirus) or a crude extract of healthy apple was used as a template in RT-PCR with the same primers. The PCR product (669 bp) of the CP gene of the virus was cloned into the plasmid vector and result-ant recombinant (pAPCP1) was selected for molecule of apple transformation to breed virus-resistant transgenic apple plants as the next step. This method can be useful for early stage screening of in vitro plantlet and genetic resources of resistant cultivar of apple plants.

Epidemiological Correlates of Breast Cancer in South India

  • Babu, Giridhara Rathnaiah;Lakshmi, Srikanthi Bodapati;Thiyagarajan, Jotheeswaran Amuthavalli
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권9호
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    • pp.5077-5083
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    • 2013
  • Background: Breast cancer is the most frequent cancer in women globally and represents the second leading cause of cancer death among women (after lung cancer). India is going through epidemiologic transition. It is reported that the incidence of breast cancer is rising rapidly as a result of changes in reproductive risk factors, dietary habits and increasing life expectancy, acting in concert with genetic factors. Materials and Methods: In order to understand the existing epidemiological correlates of breast cancer in South India, a systematic review of evidence available on epidemiologic correlates of breast cancer addressing incidence, prevalence, and associated factors like age, reproductive factors, cultural and religious factors was performed with specific focus on screening procedures in southern India. Results: An increase in breast cancer incidence due to various modifiable risk factors was noted, especially in women over 40 years of age, with late stage of presentation, lack of awareness about screening, costs, fear and stigma associated with the disease serving as major barriers for early presentation. Conclusions: Educational strategies should be aimed at modifying the life style, early planning of pregnancy, promoting breast feeding and physical activity. It is very important to obtain reliable data for planning policies, decision-making and setting up the priorities.

구강 질환 진단용 제제 (Diagnostic Agents for Oral and Maxillofacial Diseases)

  • 고홍섭
    • Journal of Oral Medicine and Pain
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    • 제24권2호
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    • pp.181-187
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    • 1999
  • The most important progress in diagnostic sciences is the increased sensitivity and specificity in diagnostic procedures due to the development of newer micromethodologies and increasing availability of immunological and molecular biological reagents. The outcome of researches in this field has already provided DNA probes and antibodies which can be used for diagnosing various kinds of diseases including inherited ones. This development can be also applied to diagnose diseases in oral and maxillofacial regions. Technological advances have yielded highly sensitive test methodologies so that low analyte concentration and small sample volume are no longer limiting factors. Therefore, saliva can be useful test fluid for an array of analytes. Salivary constituents of diagnostic significance include steroid hormones, antibodies, drugs, and tumor markers. Of the proteins present in saliva, viral-specific immunoglobulins are of the greatest diagnostic interest. The development of conjugates and antigens by recombinant DNA technique and peptide synthesis is necessary for clinical application. Several kits developed for the purpose of blood testing should be modified to permit their application to saliva. The final practical outcome of researches in diagnostic sciences will be various diagnostic agents which can be used for detection of bacteria and viruses, screening and diagnosis of diseases, genetic screening for forensic individual identification. For these purposes, collaboration researches and development between institutions and companies are essential.

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Kalanchoe 식물의 영양 번식에 영향을 줄 수 있는 유전자들의 선발 (Screening of Genes Which are Able to Affect Kalanchoe Vegetative Reproduction)

  • 정유철;정영재;김동균
    • 생명과학회지
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    • 제21권6호
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    • pp.865-874
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    • 2011
  • Bryophyllum 속에서 그것들의 잎으로부터 소식물체를 생산하는 능력을 갖고 있는 많은 종들이 잘 알려졌다. 이러한 현상은 또한 식물 영양생식으로 알려져 있다. DEG 유전자 감지 기술이 소식물체 형성을 위한 무성생식과정에 관련된 유전자의 조사에 적용되었다. 탐색 된 유전자들은 NCBI 데이터베이스를 사용한 검색 법을 기반으로, 총 69 DEGs에서 38 유전자가 발견되었다. 대부분의 이러한 DEGs는 호르몬(cytokinin과 에틸렌) 신호, 세포 신호 전달, 그리고 세포 분열과 관련 된 유전자들이였다.

Multiplex allele specific PCR 방법을 이용한 한우고기와 젖소고기의 신속한 판별 (Rapid differentiation of Hanwoo and Holstein meat using multiplex allele specific polymerase chain reaction protocols)

  • 고바라다
    • 대한수의학회지
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    • 제45권3호
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    • pp.351-357
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    • 2005
  • Here I describe a multiplex allele specific PCR-based approach for the rapid detection between Hanwoo and Holstein meat associated with Melanocortin 1 receptor (MC1R) gene. Specific and universal oligonucleotide primers were used in combination to detect the presence of a single nucleotide polymorphism within the bovine MC1R DNA sequence. The presence of the bovine MC1R gene is indicated by the production of a single control PCR product, whilst positive samples generate an alternative smaller specific product over the same region. The mutations in MC1R104 codon revealed depending on the presence or absence of an indicative fragment amplified from the wild-type allele of this codon. As little as 0.39 ng and 1.56 ng of genomic DNA of Hanwoo and Holstein could be detected by MAS-PCR assay, respectively. This technique, which is widely used in human genetic screening, provides a reliable and sensitive result that has not been documented for the identification of bovine coat color. The MAS-PCR assay approach was proven to be useful in complementing routine beef DNA analysis for differentiation of these MC1R variants and it would facilitate the screening of deceiving sales of Holstein meat in the butcher shop.

Novel heterozygous MCCC1 mutations identified in a patient with 3-methylcrotonyl-coenzyme A carboxylase deficiency

  • Kim, Yoon-Myung;Seo, Go Hun;Kim, Gu-Hwan;Yoo, Han-Wook;Lee, Beom Hee
    • Journal of Genetic Medicine
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    • 제14권1호
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    • pp.23-26
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    • 2017
  • Isolated 3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder affecting leucine metabolism; it is one of the most common inborn metabolic diseases detected in newborn screening. Mutations in the genes MCCC1 or MCCC2 cause a defect in the enzyme 3-methylcrotonyl-CoA carboxylase, with MCCC2 mutations being the form predominantly reported in Korea. The majority of infants identified by neonatal screening usually appear to be asymptomatic and remain healthy; however, some patients have been reported to exhibit mild to severe metabolic decompensation and neurologic manifestations. Here we report the clinical features of a patient with asymptomatic 3-methylcrotonyl-CoA carboxylase deficiency and novel heterozygous MCCC1 mutations.