• 제목/요약/키워드: Fluorescence in-situ hybridization (FISH)

검색결과 168건 처리시간 0.031초

염색체 이상에 의한 반복 유산 환자에서 체외수정시술 및 착상전 유전진단을 통한 임신 성공 1례 (A Case of Successful Pregnancy in Patient with Recurrent Spontaneous Abortion by Preimplantation Genetic Diagnosis Following IVF-ET)

  • 정진석;연규선;채희동;전용필;김정훈;강병문;장윤석;목정은
    • Clinical and Experimental Reproductive Medicine
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    • 제25권2호
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    • pp.135-140
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    • 1998
  • It was reported that the etiologies of recurrent spontaneous abortion are immunologic factors, endocrinologic problems, anatomical abnormalities, genetic abnormalities, infection, and unexplained factors. Among those etiologic factors, genetic abnormalities occur in about 5% of the couples who experience recurrent spontaneous abortions, and most common parental chromosomal abnormality contributing to recurrent abortion is balanced translocation. The advent of in vitro fertilization (IVF), the development of skills associated with the handling of human embryo, and an explosion of knowledge in molecular biology have opened the possibility of early diagnosis of genetic disease in preimplantation embryos. Therefore preimplantation genetic diagnosis (PGD) is indicated for couples, infertile or not, at risk of transmitting a genetic disease. A case of successful pregnancy and term delivery by PGD using fluorescence in situ hybridization (FISH) technique in patient with recurrent spontaneous abortion due to balanced translocation is presented with brief review of literatures.

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Microbial Community Analysis of 5-Stage Biological Nutrient Removal Process with Step Feed System

  • Park, Jong-Bok;Lee, Han-Woong;Lee, Soo-Youn;Lee, Jung-Ok;Bang, Iel-Soo;Park, Eui-So;Park, Doo-Hyun;Park, Yong-Keun
    • Journal of Microbiology and Biotechnology
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    • 제12권6호
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    • pp.929-935
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    • 2002
  • The 5-stage biological nutrient removal (BNR) process with step feed system showed a very stable organic carbon and nutrient removal efficiency ($87\%\;COD\,;79\%\;nitrogen,\;and\;87\%$ phosphorus) for an operation period of 2 years. In each stage at the pilot plant, microbial communities, which are important in removing nitrogen and phosphorus, were investigated using fluorescence in-situ hybridization (FISH) and 165 rDNA characterization. All tanks of 5-stage sludge had a similar composition of bacterial communities. The totat cell numbers of each reactor were found to be around $2.36-2.83{\times}10^9$ cells/ml. About $56.5-62.0\%$ of total 4,6-diamidino-2-phenylindol (DAPI) cells were hybridized to the bacterial-specific probe EUB388. Members of ${\beta}$-proteobacteria were the most abundant proteobacterial group, accounting for up to $20.6-26.7\%$. The high G+C Gram-positive bacterial group and Cytophaga-Flexibacter cluster counts were also found to be relatively high. The beta subclass proteobacteria did not accumulate a large amount of polyphosphate. The proportion of phosphorus-accumulating organisms (PAOs) in the total population of the sludge was almost $50\%$ in anoxic-1 tank. The high G+C Gram-positive bacteria and Cytophaga-Flexibacter cluster indicate a key role of denitrifying phosphorus-accumulating organisms (dPAOs). Both groups might be correlated with some other subclass of proteobacteria for enhancing nitrogen and phosphorus removal in this process.

Identification of a Tandemly Repented DNA Sequence Using Combined RAPD and FISH in Welsh Onion (Allium fistulosum)

  • Bong Bo Seo;Geum Sook Do;Seon Hee Lee
    • Animal cells and systems
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    • 제3권1호
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    • pp.69-72
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    • 1999
  • A tandemly repeated DNA sequence was identified and characterized y the combined RAPD and FISH data from a total genomic DNA of Welsh onion (Allium fistulosum). A clone containing this repeating sequence was selected and sequenced. This repeating unit of 314 bp inserted into pAf 072 contained 54.1% adenine and thymine residues, and showed the primer sequence used, 5'-GAAACGGGTG-3', in both terminals of the sequence. Fluorescence in situ hybridization using this tandemly repeated sequence as a probe indicated that the detected sites were coincident with the major C-banded constitutive heterochromatin in the terminal regions of both arms of all 6 chromosomes.

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Genome-wide Examination of Chromosomal Aberrations in Neuroblastoma SH-SY5Y Cells by Array-based Comparative Genomic Hybridization

  • Do, Jin Hwan;Kim, In Su;Park, Tae-Kyu;Choi, Dong-Kug
    • Molecules and Cells
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    • 제24권1호
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    • pp.105-112
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    • 2007
  • Most neuroblastoma cells have chromosomal aberrations such as gains, losses, amplifications and deletions of DNA. Conventional approaches like fluorescence in situ hybridization (FISH) or metaphase comparative genomic hybridization (CGH) can detect chromosomal aberrations, but their resolution is low. In this study we used array-based comparative genomic hybridization to identify the chromosomal aberrations in human neuroblastoma SH-SY5Y cells. The DNA microarray consisting of 4000 bacterial artificial chromosome (BAC) clones was able to detect chromosomal regions with aberrations. The SH-SY5Y cells showed chromosomal gains in 1q12~ q44 (Chr1:142188905-246084832), 7 (over the whole chro-mosome), 2p25.3~p16.3 (Chr2:18179-47899074), and 17q 21.32~q25.3 (Chr17:42153031-78607159), while chromosomal losses detected were the distal deletion of 1p36.33 (Chr1:552910-563807), 14q21.1~q21.3 (Chr14:37666271-47282550), and 22q13.1~q13.2 (Chr22:36885764-4190 7123). Except for the gain in 17q21 and the loss in 1p36, the other regions of gain or loss in SH-SY5Y cells were newly identified.

rDNA와 말단소체 반복서열 탐침을 이용한 천마의 FISH 염색체 조성 분석 (Analysis of Chromosome Composition of Gastrodia elata Blume by Fluorescent in situ Hybridization using rDNA and Telomeric Repeat Probes)

  • ;박응준;김현희
    • 한국약용작물학회지
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    • 제26권2호
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    • pp.113-118
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    • 2018
  • Background: Gastrodia elata Blume is a saprophytic perennial plant in the Orchidaceae family, because of its agricultural and medicinal effectiveness, researchers focus on its genome and chemical components. However, cytogenetic information based on the chromosome structure and composition to construct chromosomal backbone for genome sequencing research and for the development and breeding of plants is very limited. Methods and Results: We determined the metaphase chromosome composition of the G. elata genome by fluorescence in situ hybridization (FISH) using 5S and 45S rDNAs and telomeric repeat probes. The nuclear genome of G. elata was organized into 2 n = 36, with relatively small ($2.71-5.50{\mu}m$)chromosomes that showed gradual decrease in size. Conglutination phenomenon was observed among the metaphase chromosomes, and it was distinguished from that in other plant metaphase chromosome spreads. One pair of signal was detected for each 5S and 45S rDNA in the pericentromeric region and interstitial region on the short arm of chromosomes 10 and 4, respectively, and telomeric DNA signals were detected in the terminal region of most chromosomes. Conclusions: To our knowledge, this is the first FISH chromosome composition result in G. elata and could be useful in more comprehensive molecular cytogenetic and genomic analyses as well as breeding programs of the medicinal plant G. elata.

FISH를 이용한 다운증후군과 에드워드증후군의 신속한 산전확인 : 309예의 임상적 고찰 (Rapid prenatal diagnosis of Down syndrome and Edward syndrome by fluorescence In situ hybridization : Clinical experience with 309 cases)

  • 강진희;이숙환;박상희;박지현;김지연;한원보;김인현;박상원;장진범;이경진;박희진;전혜선;이경주;신중식;차동현
    • Journal of Genetic Medicine
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    • 제4권1호
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    • pp.64-71
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    • 2007
  • 목 적 : 다운증후군과 에드워드증후군의 빠른 진단에 있어 FISH 검사의 임상적 유용성과 한계성을 보고하고자 한다. 방 법 : 유전질환이 의심되는 고위험임신 309예에서 양수 검사를 통해 미배양 양수세포에서 18번과 21번 염색체의 probes를 이용한 FISH 검사를 시행하고 이들의 결과를 염색체 핵형분석 결과와 비교하였다. 결 과 : 평균연령은 34.18세, 평균임신주수는 18주(126.12 일)의 309예에서 FISH 검사는 모두 성공하였다. 각각 1예씩의 다운증후군과 에드워드증후군이 FISH로 신속한 진단이 가능했으며 이들은 염색체 핵형 검사에서 확인하였다. 그러나 18번과 21번 이외의 염색체의 이수성과 구조적 이상은 발견하지 못했는데 모두 12예(3.9%)로 상당부분을 차지했다. 앞으로 산전 선별검사에 있어 FISH검사과정의 자동화 기계화로 더 시간을 단축하고 가격을 낮추는 방안이 계속 개발되어야 할 것이다.

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터너증후군 의심환자에서 2개의 SRY 유전자 발현 1예 (A Case of Two SRY Genes in a Tuner's Syndrome Feature)

  • 박상묵;김윤식
    • 대한임상검사과학회지
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    • 제42권3호
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    • pp.111-115
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    • 2010
  • A 15-year-old female with primary amenorrhea and Tuner's syndrome feature was referred for a chromosome analysis. The karyotype of the patient was 45,X/46,X,der(Y) mosaicism under initial GTG-banding analysis. Fluorescence in situ hybridization (FISH) analysis with probe for CEP X probes and SRY probe (Vysis, Inc. Downers Grove, IL 60515, USA) was carried out. This probe is direct labeled with SpectrumOrange (SRY, Yp11.3) and is available as a single probe or mixed with the CEP X SpectrumGreen probe. SRY SpectrumOrange/CEP X SpectrumGreen hybridized to a specimen obtained from an two isodicentric Y chromosomes. The karyotype of the patient was ish Xcen(DXZ1x1)/Xcen(DXZ1x1), Yp11.3(SRYx2) by using FISH. This karyotype was considered a variant of Tuner syndrome with mixed gonadal dysgenesis (MGD), male pseudohermaphroitism (MPH) and apparently normal male.

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임상 객담검체에서 Peptide Nucleic Acid Probe를 이용한 결핵과 비결핵 항산균의 구분 (Evaluation of Peptide Nucleic Acid Probe-Based Fluorescence In Situ Hybridization for the Detection of Mycobacterium tuberculosis Complex and Nontuberculous Mycobacteria in Clinical Respiratory Specimens)

  • 이승희;김신영;김형회;이은엽;장철훈
    • Annals of Clinical Microbiology
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    • 제18권2호
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    • pp.37-43
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    • 2015
  • 배경: 결핵은 전세계적으로 단일 원인균으로는 가장 높은 치사율을 가진 질병이다. 결핵의 치료에 있어서 마이코박테리아를 빠르고 정확하게 확인하는 것이 필수적이다. 본 연구에서는 임상 객담 검체의 도말 슬라이드에서 결핵균과 비결핵 항산균의 감별을 위해 Peptide Nucleic Acid (PNA) Probe를 이용한 FISH assay를 평가하고자 한다. 방법: 결핵균과 비결핵 항산균의 16s rRNA를 타겟으로 한 PNA probe를 합성하였다. 각 probe의 특이도는 표준 균주인 Mycobacterium tuberculosis ATCC 13950, M. kansasii ATCC 12479, 임상 검체에서 분리된 마이코박테리아 3종(M. abscessus, M. avium, and M. intracellulare) 그리고 호흡기계에서 흔히 분리되는 10종류의 박테리아를 이용하였다. Centers for Disease Control and Prevention (CDC)의 Acid fast bacili (AFB) 염색 기준상 trace 이상인 128개의 임상 객담 검체를 이용하여 Probe의 성능을 평가하였다. PNA FISH와 항산균 염색결과는 CDC 기준에 따라 단계를 분류하고 서로 비교하였다. 결과: 결핵균과 비결핵 항산균 특이 PNA probe는 결핵균과 M. kansasii 표준 균주 그리고 임상검체에서 분리된 3종의 마이코박테리아에 대해 특이적인 반응을 보였고 다른 박테리아와 교차반응을 보이지 않았다. 또한 89개의 결핵균 배양 양성 객담 검체와 29개의 비결핵 항산균 배양 양성 객담 검체에 각각 특이적인 반응을 보였고 CDC 기준에 따라 분류한 PNA FISH와 AFB염색 결과는 2+ 이상의 검체에서 서로 잘 일치하였다. 결론: PNA FISH 방법은 임상 객담 검체에서 결핵을 진단하고, 항산균과 비결핵 항산균을 구분하는데 있어서 민감하고 정확한 결과를 보였다.

Quantification of Bacillus Species in a Wastewater Treatment System by the Molecular Analyses

  • Mori Koji;Iriye Ryozo;Hirata Mutsunori;Takamizawa Kazuhiro
    • Biotechnology and Bioprocess Engineering:BBE
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    • 제9권6호
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    • pp.482-489
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    • 2004
  • Bacillus species were observed and quantified by molecular approaches, using the 16S rDNA primers/probes, in a wastewater treatment plant designed for the purpose of stimulating the growth of Bacillus species. The plant has been operating as a test plant since 1997 in the city of Ina, Japan, with excellent treatment performance. Observations by in situ hybridization, using Bacillus-specific probes, indicated that Bacillus strains were inhabited in the plant and their num­bers decreased during the treatment process. Similar results were obtained from a quantitative PCR analysis using a Bacillus-specific primer set, and the amount of DNA originating from various Bacillus species was maximally $1.91%\$ of the total DNA in the wastewater treatment tank. Clone library analysis using the Bacillus-specific primers suggested that, while the population was no­ticeably increased, the phylogenetic diversity of the increasing Bacillus species was very low.

Clinical Implications According to Diagnostic Methods of Human Epidermal Growth Factor Receptor 2 Positivity in Breast Cancer: A Retrospective Study

  • Kim, Bong Kyun;Jeong, Joon;Han, Wonshik;Yoon, Tae-In;Seong, Min-Ki;Jung, Jin Hyang;Jung, Sung Hoo;Lee, Jina;Sun, Woo Young;Korean Breast Cancer Society
    • Journal of Breast Disease
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    • 제6권2호
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    • pp.60-72
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    • 2018
  • Purpose: According to American Society of Clinical Oncology/College of American Pathologists guidelines, breast cancer is human epidermal growth factor receptor 2 (HER2) positive if there is HER2 protein overexpression at a 3+ level on immunohistochemistry (IHC 3+) or gene amplification (more than six copies per nucleus) on fluorescence in situ hybridization (FISH+). However, there have been few reports on whether outcomes differ based on diagnosis by these two techniques. In this study, we compared outcomes based on the two methods in patients with HER2-positive breast cancer. Methods: This study was a retrospective analysis of HER2-positive breast cancer in 18,304 patients, including 14,652 IHC 3+ patients and 3,652 FISH+ patients from the Korean Breast Cancer Society Registry. We compared breast cancer-specific survival and overall survival based on IHC 3+ and FISH+ status with or without trastuzumab. Results: Breast cancer-specific survival was significantly different between the IHC 3+ and FISH+ groups, with 5-year cumulative survival rates of 95.0% for IHC 3+ and 98.5% for FISH+ patients who did not receive trastuzumab (p=0.001) in Kaplan-Meier methods. However, there were no significant differences in breast cancer-specific survival and overall survival between IHC 3+ and FISH+ groups regardless of trastuzumab treatment in Cox proportional hazards models. Conclusion: The survival outcomes were not affected by the different two diagnostic methods of HER2-positive breast cancer. Further research to evaluate differences in prognosis and other characteristics according to the diagnostic methods of HER2 positivity is needed in the future.