• 제목/요약/키워드: Genetic screening

검색결과 501건 처리시간 0.036초

Fluorescence in situ hybridization(FISH) 기법을 이용한 인간 생식세포 및 착상전 배아의 유전이상 검색 (Detection of genetic abnormalities in human sperm, oocytes, and preimplantation embryos using fluorescence in situ hybridization (FISH))

  • 방명걸
    • 한국발생생물학회:학술대회논문집
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    • 한국발생생물학회 1998년도 제4차 학술발표대회 및 정기총회
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    • pp.12-18
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    • 1998
  • Tremendous progress has been made over the past quarter-century studying the genetics of gametogenesis and the resulting gametes and embryos. Studies merging molecular techniques and conventional cytogenetics are now beginning to bridge the gap between what we have learned about the meiotic process in males and females and what we know of the mitotic chromosomes of zygotes. Numerical abnormalities in sperm, oocytes and embryo can now diagnosed by fluorescence in situ hybridization (FISH). "At risk" couples can, therefore, have only unaffected embryos replaced in the sterus and avoid the possibility of terminating a pregnancy that might only be diagnosed as affected later gestation. Single-cell genetic analysis has also provided powerful tools for studying genetic defects arising during early human development. Recent studies of sperms, oocytes and cleavage-stage human embryos have revealed an unexpectedly high incidence. These genetic abnormalities are likely to contribute to early pregnancy loss and have important implications for improving pregnancy rates in infertile couples by assisted reproduction. The widespread use of preimplantation genetic diagnosis (PGD) awaits further documentatio of safety and accuracy. Other issues also must be addressed. First, the ethical issues regarding germ cell and embryo screening must be addressed including what diseases are serious enough to warrant the procedure. Another concern is the use of this technology for non-genetic disorders such as gender selection. Finally, the experimental nature of these procedure must continually be discussed with patients, and long-term follow-up studies must be undertaken. Development of more accurate and less expensive assays coupled with improved assisted reproductive technology success rates may make PGD a more widely use clinical tool. The future awaits these development.velopment.

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Isolation of Deletion Mutants by Reverse Genetics in Caenorhabditis elegans

  • Park, Byung-Jae;Lee, Jin ll;Lee, Jiyeon;Kim, Sunja;Choi, Kyu Yeong;Park, Chul-Seung;Ahn, Joohong
    • Animal cells and systems
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    • 제5권1호
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    • pp.65-69
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    • 2001
  • Obtaining mutant animals is important for studying the function of a particular gene. A chemical mutagenesis was first carried out to generate mutations in C. elegans. In this study, we used ultraviolet-activated 4,5',8-trimethylpsoralen to induce small deletion mutations. A library of mutagenized worms was prepared for recovery of candidate animals and stored at $15^{\circ}C$ during screening instead of being made into a frozen stock library. In order to isolate deletion mutations in target genes, a polymerase chain reaction (PCR)-based screening method was used. As a result, two independent mutants with deletions of approximately 1.0 kb and 1.3 kb were isolated. This modified and improved reverse genetic approach was proven to be effective and practical for isolating mutant animals to study gene function at the organismal level.

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Screening methods for drought and salinity tolerance with transgenic rice seedlings

  • Song, Jae-Young;Song, Seon-Kyeong;Yu, Dal-A;Kim, Me-Sun;Kang, Kwon Kyoo;Cho, Yong-Gu
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2017년도 9th Asian Crop Science Association conference
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    • pp.165-165
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    • 2017
  • Abiotic stress is one of the major serious limiting factors in rice (Oryza sativa) and caused rice production losses. It is important to precisely screen valuable genetic resources for improving stress tolerance and understanding tolerance mechanism to abiotic stresses. Because there are differences of experiment designs for screening of tolerant plant in several studies related to abiotic stress, this study has performed to provide the rapid and efficiency screening method for selection of tolerance rice to drought and salinity stresses. Two week-old rice seedlings that reached about three leaf stage were treated with drought and salinity stresses and examined tolerant levels with tolerant and susceptible control varieties, and transgenic plants. To determine the optimum concentration for the selection of drought and salinity condition, tolerant, susceptible and wild-type plants were grown under three soil moisture contents (5, 10 and 20% water contents) and three NaCl concentrations (100, 200 and 250 mM) for 10 days at seedling stage. 200 mM NaCl concentration and 5% moisture content soil were determined as the optimum conditions, respectively. The described methodologies in this study are simple and efficiency and might help the selection of drought and salinity tolerance plants at the 3,4-leaf-seedling stage.

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Development of PCR-Based Screening Methods for Macrolide Type Polyketides in Actinomycetes

  • Hyun, Chang-Gu;Suh, Joo-Won
    • Journal of Applied Biological Chemistry
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    • 제42권3호
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    • pp.119-124
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    • 1999
  • About two thirds of the naturally occurring antibiotics have been discovered from actinomycetes. Therefore, the probability of discovering further new antibiotics from actinomycetes is declining as many known metabolites are isolated repeatedly. However, various efforts leave been made in order to enhance the probability of discovering novel compounds. In the present study, we have developed new screening strategies based on the antibiotic biosynthetic pathway, and the genetic information, utilizing polymerase chain reaction. We have selected macrolide type polyketides. In order to divide the ansamycin group antibotic of macrolide type polyketides, we have selected 3-amino-5-hydroxybenzoic acid (AHBA) moiety which contains a biosynthetically unique structural element in the group as a target molecules. Oligonucleotide primers were designed to amplify DNA fragments of macrolide type polyketide synthase and AHBA synthase genes from fourteen actinomycetes species. This method was successfully applied to all three of the known macrolide type polyketide produccing actinomycetes tested. In addition, it also identified the presence of potential macrolide type polyketide producing genes from seven actinomycetes that were known to produce none of macrolide type polyketides, and AHBA biosynthetic genes in one actinomycetes. This technique is potentially useful for the screening of new antibiotices and cloning of their biosynthetic genes.

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Recent Trends of Lung Cancer in Korea

  • Lee, Jae Guk;Kim, Ho Cheol;Choi, Chang-Min
    • Tuberculosis and Respiratory Diseases
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    • 제84권2호
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    • pp.89-95
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    • 2021
  • Lung cancer is one of the leading causes of cancer-related deaths in Korea. Although the smoking rate has decreased over time, the prevalence of lung cancer still remains high. In this study, we reviewed recent trends on the incidence, epidemiology, screening, diagnosis, and treatment of lung cancer in Korea by analyzing data from the national lung cancer registry and recently-published studies. Although approximately 40% of patients with non-small cell lung cancer (NSCLC) were diagnosed as stage IV, the 5-year relative survival rate improved from 11.3% (1993-1995) to 30.2% (2013-2017), possibly due to advances in methods of diagnosis and therapy. In addition, the 2019 implementation of the national lung cancer screening program with low-dose computed tomography may have also contributed to these improvements in survival rates. Recently, molecular diagnosis has become more widely used in the identification of genetic mutations in tissue specimens. Target therapy and immune checkpoint inhibitors have also been successfully used, particularly in cases of advanced NSCLC. In the future, further research on the optimal management of lung cancer remains necessary.

Screening for Inhibitor of c-myc Expression and Identification of Isolate No.2303

  • Chung, Ji-Hyung;Yeo, Ick-Hyun;Oh, Doo-Whan;Moon, Soon-Ok
    • Journal of Microbiology and Biotechnology
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    • 제5권5호
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    • pp.264-268
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    • 1995
  • Sulforhodamine B(SRB) assay was performed on the human lung carcinoma, A549 cell line to screen soil microorganisms for production of anti-cancer agent. Among 4, 265 microorganisms, 45 isolates were selected for their cytotoxicity and tested for their effects on the expression of c-myc by RNA slot blot and Northern blot analysis resulting in selection of No.2303 isolate. This No.2303 was identified as Streptomyces sp. by ISP classification and the chemotaxonomic analysis method. NO.2303 inhibited the expression of cmyc in Col0320 DM and A549 cell lines. The culture extract of No. 2303 also inhibited the progression of the cell cycle of Go in NIH 313 cells, implying that the extract also inhibited the expression of c-myc in NIH 313 cell.

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Artificial Screening for Black Rot Resistance Based on Different Disease Parameter in Early Cauliflower

  • Pandey, Koshlendra Kumar;Pandey, Padma Kant;Singh, Bijendra
    • Mycobiology
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    • 제31권3호
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    • pp.173-178
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    • 2003
  • India has maximum genetic materials in early cauliflower, which grow in subtropical conditions. Different disease parameters like linear growth, maximum growth rate per day, AUDPC, apparent infection rate and percent diseased area were calculated in artificially inoculated plants. Apparent infection rate is not co-related with the black rot disease incidence and should never be considered during characterization of disease resistance and varietal screening. Based on the above disease parameters Kunwari-18, Phool Gobhi Kunwari, Kataki-7 and BT-10-2 were selected as moderately resistance to black rot in early cauliflower. These lines can be used for black rot prone area and also for black rot disease improvement programme. Considering the qualitative and quantitative parameters, slow rotting resistance cauliflower lines are selected as such for cultivation and would be best suited in integrated disease programme.

Clinical significance of sonographic soft markers: A review

  • Kim, Mi Sun;Kang, Sukho;Cho, Hee Young
    • Journal of Genetic Medicine
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    • 제15권1호
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    • pp.1-7
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    • 2018
  • Sonographic findings with little or no pathological significance, known as soft markers, are often found in aneuploidy fetuses. After normal screening for the aneuploidy in first trimester, there are no uniform recommendations regarding when to disregard or put on clinical significance in isolated soft markers. Associations between some soft markers and adverse pregnancy outcomes including intrauterine fetal death, preterm birth, fetal growth restriction, and congenital infection have been reported in euploidy fetuses. The present article aims to review recent literatures about the clinical significance of soft markers after normal first trimester combined screening or noninvasive prenatal testing, and propose a simple clinical summary for management of specific soft markers in pregnancies.

고품질 한우 생산 유전자 연구에서 환경 요인을 보정한 통계적 모형 제안 (Proposal of statistical model adjusted environmental factor in genetic research for high quality Hanwoo production)

  • 장지은;이제영;오동엽
    • Journal of the Korean Data and Information Science Society
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    • 제26권6호
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    • pp.1397-1407
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    • 2015
  • 개체의 표현형은 대부분 유전적인 요인의 영향과 환경적인 요인의 영향을 모두 받는다. 따라서 한우의 경제적인 특성과 연관이 있는 유전자 마커 선별 연구에서도 관심이 있는 유전적인 요인의 효과를 좀 더 정확히 보기 위해서는 환경적인 요인의 보정이 필요하다. 본 연구의 목적은 고품질 한우 생산을 위한 우수 유전자 마커 선별 연구에서 환경적인 요인이 보정된 새로운 통계 모형을 제안하고 그 효과를 규명하는 데 있다. 먼저 환경적인 요인과 유전적인 요인을 모두 포함한 통계모형을 구축한 뒤, 환경적인 요인인 도축일령과 사육농가의 효과를 제거하여 보정된 경제형질의 값을 구한다. 그리고 다중인자차원축소 방법을 보정 전 후 데이터에 각각 적용하여 우수 유전자 마커 조합을 선별하고 정확도를 비교한다. 사용된 경제형질은 C18:1, SFA, MUFA, MS, CWT, BFT이며 사용된 유전자 마커는 49개 LPL 유전자 마커 중 지방산 조성 및 경제 형질 능력 검정을 통해 나머지에 비해 더 뛰어난 유전자 마커로 선별된 6개 (g.6960 A>T, g.6974 G>A, g.21604 G>A, g.22488 G>T, g.22649 G>A, g.25670 C>T)이다.

Endo-1,4-β-xylanase B from Aspergillus cf. niger BCC14405 Isolated in Thailand: Purification, Characterization and Gene Isolation

  • Krisana, Asano;Rutchadaporng, Sriprang;Jarupan, Gobsuk;Lily, Eurwilaichitr;Sutipa, Tanapongpipat;Kanyawim, Kirtikara
    • BMB Reports
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    • 제38권1호
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    • pp.17-23
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    • 2005
  • During the screening of xylanolytic enzymes from locally isolated fungi, one strain BCC14405, exhibited high enzyme activity with thermostability. This fugal strain was identified as Aspergillus cf. niger based on its morphological characteristics and internal transcribed spacer (ITS) sequences. An enzyme with xylanolytic activity from BCC14405 was later purified and characterized. It was found to have a molecular mass of ca. 21 kDa, an optimal pH of 5.0, and an optimal temperature of $55^{\circ}C$. When tested using xylan from birchwood, it showed $K_m$ and $V_{max}$ values of 8.9 mg/ml and 11,100 U/mg, respectively. The enzyme was inhibited by $CuSO_4$, EDTA, and by $FeSO_4$. The homology of the 20-residue N-terminal protein sequence showed that the enzyme was an endo-1,4-$\beta$-xylanase. The full-length gene encoding endo-1,4-$\beta$-xylanase from BCC14405 was obtained by PCR amplification of its cDNA. The gene contained an open reading frame of 678 bp, encoding a 225 amino acid protein, which was identical to the endo-1,4-$\^{a}$-xylanase B previously identified in A. niger.