• Title/Summary/Keyword: human chromosome

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Chromosome Analysis in Clinical Samples by Chromosome Diagnostic System Using Fluorescence in Situ Hybridization (국산 Fluorescence in Situ Hybridization 시스템을 이용한 다양한 검체에서의 염색체 분석)

  • Moon, Shin-Yong;Pang, Myung-Geol;Oh, Sun-Kyung;Ryu, Buom-Yong;Hwang, Do-Yeong;Jung, Byeong-Jun;Choe, Jin;Sohn, Cherl;Chang, Jun-Keun;Kim, Jong-Won;Kim, Seok-Hyun;Choi, Young-Min
    • Clinical and Experimental Reproductive Medicine
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    • v.24 no.3
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    • pp.335-340
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    • 1997
  • Fluorescence in situ hybridization (FISH) techniques allow the enumeration of chromosome abnormalities and from a great potential for many clinical applications. In order to produce quantitative and reproducible results, expensive tools such as a cooled CCD camera and a computer software are required. We have developed a Chromosome Image Processing System (Chips) using FISH that allows the detection and mapping of the genetic aberrations. The aim of our study, therefore, is to evaluate the capabilities of our original system using a black-and-white video camera. As a model system, three repetitive DNA probes (D18Z1, DXZ1, and DYZ3) were hybridized to variety different clinical samples such as human metaphase spreads and interphase nuclei obtained from uncultured peripheral blood lymphocytes, uncultured amniocytes, and germ cells. The visualization of the FISH signals was performed using our system for image acquisition and pseudocoloring. FISH images were obtained by combining images from each of probes and DAPI counterstain captured separately. Using our original system, the aberrations of single or multiple chromosomes in a single hybridization experiment using chromosomes and interphase nuclei from a variety of cell types, including lymphocytes, amniocytes, sperm, and biopsied blastomeres, were enabled to evaluate. There were no differences in the image quality in accordance with FISH method, fluorochrome types, or different clinical samples. Always bright signals were detected using our system. Our system also yielded constant results. Our Chips would permit a level of performance of FISH analysis on metaphase chromosomes and interphase nuclei with unparalleled capabilities. Thus, it would be useful for clinical purposes.

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Chromosome Aberration Test of Water Extract of Decaffeined Green Tea using Supercritical Carbon Dioxide with Mammalian cell line (초임계이산화탄소를 이용한 탈카페인녹차 열수추출물의 포유동물 세포주를 이용한 염색체이상시험)

  • Koo, Yun-Chang;Lee, Hyun-Sun;Park, Byung-Gyu;Kim, Eun-Jin;Lee, Sun-Joo;Kim, Kyoung-Hoen;Kim, Young-Suk;Chung, Young-Shin;Lee, Kwang-Won
    • Environmental Mutagens and Carcinogens
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    • v.26 no.4
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    • pp.119-124
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    • 2006
  • There are $10{\sim}30%$ polyphenol and $2{\sim}4%$ caffeine in green tea. Caffeine is a kind of alkaloid containing nitrogen which cause stimulation, impatience, headache, insomnia, low birth weight infant. Because of these negative effect, decaffeined beverage came out and decaffeined coffee already have a big market since 1970s. Having proving the physiologic functions of green tea, high consumption of coffee is shifting to green tea. Because of the carcinogenic effect of the organic solvents, decaffeine processing with supercritical carbon dioxide has industrialized and have an advantage in environment-friendly and minimized flavor loss. Decaffeined green tea using supercritical carbon dioxide is considered to be safe but there are not enough study. We investigated the chromosome aberration test with mammalian cell line, CHL. When the cells were treated with 5000, 2000, 1000 ${\mu}g/ml$ and compared with the negative controls, there were no significant(P>0.05) increased chromosome aberration. Same results was observed when adding S9 mixture or not. As a result, water extract of decaffeined green tea using supercritical carbon dioxide does not induce chromosome aberration.

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Promoter Prediction on the Human Chromosome 22 by Promsearch (PromSearch를 이용한 인간 염색체 22번의 프로모터 예측)

  • 김윤희;김병희;장병탁
    • Proceedings of the Korean Information Science Society Conference
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    • 2004.04b
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    • pp.340-342
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    • 2004
  • Promsearch는 인간 DNA에서 코어 프로모터 영역을 예측하는 프로그램이며, PWM(position weight matrix)과 신경망을 기반으로 전사시작지점을 예측한다. 프로그램은 대량의 서열 데이터를 처리할 수 있도록 구성되었으며, 본 논문에서는 인간 염색체 22번에 대한 프로모터 예측 결과를 제시한다. Annotated된 936개의 유전자와 Promsearch가 예측한 프로모터간의 위치의 상관관계를 계산한 결과 87개에 대해 프로모터 예측 결과가 의미 있는 것으로 밝혀졌다. 예측의 민감도는 25%이며, Promsearch가 대규모 시퀀싱 프로젝트에서 나오는 대량의 서열 데이터를 1차적으로 분석하는 도구로서 사용될 수 있음을 확인하였다.

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Identification and Phylogeny of the Human Endogenous Retrovirus HERV-W LTR Family in Schizophrenia

  • Huh, Jae-Won;Yi, Joo-Mi;Kim, Heui-Soo
    • Journal of Life Science
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    • v.11 no.2
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    • pp.83-86
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    • 2001
  • The long terminal repeat (LTR) elements of human endogenous retrovirus (HERV) have been found to be coexpressed with genes located nearby. It has been suggested that the LTR elements have contributed to the genetic variation of human genome connected to various diseases. Recently, HERV-W family was identified in the cerebrospinal fluids and brains of individuals with schizophrenia. Using genomic DNAs derived from schizophrenia, we performed PCR amplification and identified six HERV-W LTR elements. Those LTR elements showed a high degree of sequence similarity (87.7-99.5%) with HERV-W LTR (AF072500). Sequence analysis of the HERV-W LTR elements revealed that clone W-sch1 showed identical sequence with the AC003014 (PAC clone RP1-290B4) derived from human Xq23. Clone W-sch2 was closely related to the AC0072442 derived from human Y chromosome by phylogenetic analysis. Our data suggest that new HERV-W LTR elements in schizophrenia may be very useful for further studies to understand neuropsychiatric diseases.

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Distinct Repressive Properties of the Mammalian and Fish Orphan Nuclear Receptors SHP and DAX-1

  • Park, Yun-Yong;Teyssier, Catherine;Vanacker, Jean-Marc;Choi, Hueng-Sik
    • Molecules and Cells
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    • v.23 no.3
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    • pp.331-339
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    • 2007
  • It has been suggested that the structure and function of nuclear receptors are evolutionally conserved. Here, we compare the molecular functions of the nile tilapia (Oreochromis niloticus) small heterodimer partner (nSHP/NR0B2) and the Dosage-sensitive sex reversal AHC critical region on X chromosome gene 1 (nDAX-1/NR0B1) with those of human SHP and DAX-1 (hSHP and hDAX-1, respectively). We found that, upon transient cotransfection of human cells, nDAX-1 repressed the activity of tilapia SF-1 (nSF-1) but not that of human SF-1, although the physical interaction with human SF-1 was retained. Similarly, nSHP repressed the activity of nSF-1, whereas hSHP did not, pointing to divergent evolution of SHP/SF-1 in fish and human. We thus propose that the repressive functions of SHP and DAX-1 have been conserved in fish and mammals although with different transcriptional targets and mechanisms. These differences provide new insights into the physiological diversification of atypical orphan nuclear receptors during vertebrate evolution.

Usefulness of RPS4Y Gene on Sex Determination in Human Teeth (사람치아에서 성별감정시 RPS4Y 유전자의 유용성)

  • Yoon, Wang-Ro;Ahn, Jong-Mo;Yoon, Chang-Lyuk
    • Journal of Oral Medicine and Pain
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    • v.33 no.1
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    • pp.59-66
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    • 2008
  • Ribosomal Protein S4Y(RPS4Y) gene is the human sex-linked gene on the Y chromosome. There are a number of reports on the sex determination using RPS4Y gene analysis for prevention and diagnosis in sex-linked disease. Thus RPS4Y gene is a reliable genetic marker for sex determination in forensic medicine. In general, the sex determination of an unidentified body can be achieved based on anatomical characteristics, but sometimes sex determination was considered to be difficult such as pre-adolescent bodies or decomposed, mutilated bodies. In this case, Sex determination using PCR method in human teeth produces good results. Because human teeth have a great structural durability, the DNA well preserved in the teeth. So author isolated nuclear DNA from the 20 human teeth(10 males, 10 females), performed to detect RPS4Y gene by PCR method. Samples were divided four group(10 pulp and 10 dentinal tissue in male, 10 pulp and 10 dentinal tissue in female). It was found that detection of RPS4Y gene for sex determination was possible in all the male pulp tissues and 6 out of 10 male dentinal tissues. But there was not detected in female pulp and dentinal tissues. In the view of this results demonstrates the possibility that detection of RPS4Y gene with other sex chromosome genes from the human teeth is useful to sex determination in forensic medicine.

Candidate Tumor-Suppressor Gene Regions Responsible for Radiation Lymphomagenesis in F1 Mice with Different p53 Status

  • Hong, Doo-Pyo;Choi, Dong-Kug;Choi, Wahn-Soo;Cho, Bong-Gum;Park, Tae-Kyu;Lim, Beong-Ou
    • Korean Journal of Medicinal Crop Science
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    • v.14 no.2
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    • pp.96-100
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    • 2006
  • Regions of allelic loss on chromosomes in many tumors of human and some experimental animals are generally considered to harbor tumor-suppressor genes involved in tumorigenesis. Allelotype analyses have greatly improved our under-standing of the molecular mechanism of radiation lymphomagenesis. Previously, we and others found frequent loss of heterozygosity (LOH) on chromosomes 4, 11, 12, 16 and 19 in radiation-induced lymphomas from several $F_1$, hybrid mice. To examine possible contributions of individual tumor-suppressor genes to tumorigenesis in p53 heterozygous deficiency, we investigated the genome-wide distribution and status of LOH in radiation-induced lymphomas from $F_1$ mice with different p53 status. In this study, we found frequent LOH (more than 20%) on chromosomes 4 and 12 and on chromosomes 11, 12, 16 and 19 in radiation-induced lymphomas from $(STS/A{\times}MSM/Ms)F_1$ mice and $(STS/A{\times}MSM/Ms)F_1-p53^{KO/+}$ mice, respectively. Low incidences of LOH (10-20%) were also observed on chromosomes 11 in mice with wild-type p53, and chromosomes 1, 2, 9, 17 and X in p53 heterozygous-deficient mice. The frequency of LOH on chromosomes 9 and 11 increased in the $(STS/A{\times}MSM/Ms)F_1-p53^{KO/+}$ mice. Preferential losses of the STS-derived allele on chromosome 9 and wild-type p53 allele on chromosome 11 were also found in the p53 heterozygous-deficient mice. Thus, the putative tumor-suppressor gene regions responsible for lymphomagenesis might considerably differ due to the p53 status.

Mutagenicity Study of DA-3030, A New Recombinant Human G-CSF(rhG-CSF) (새로운 재조합 인 과립구 콜로니 자극인자 DA-3030의 변이원성연구)

  • 강경구;최성학;김옥진;안병옥;백남기;김계원;김원배;양중익
    • Biomolecules & Therapeutics
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    • v.2 no.3
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    • pp.286-291
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    • 1994
  • The mutagenicity of DA-3030(rhG-CSF)was studied by reverse mutation test, chromosome aberration test and micronucleus test. The reverse mutatuon test in bacteria was performed using salmonella typhimurium strain TA100, TA98, TA1535 and TA1537 with rhG-CSF in any of the concentrations(150, 75, 37.5, 18.75, 9.375 and 4,6875 $\mu\textrm{g}$/plate), no increase in the number of revertant colonies in each strain was observed, irrespective of treatment with the metabolic activation system(S-9 mix) The chromosome aberration test was carried out using CHL cells, cell line from chinese hamster lung. With 4 doses(75, 37.5, 18.75 and 9.375 $\mu\textrm{g}$/ml) of rhG-/CSF the cells were treated for 24 or 48 hours in the direct method or for 6 hours followed by 18 hour-expression time in the metabolic activation method. Results of the study showed, by the direct method or metabolic activation method, no trend toward increase in the number of aberrant metaphase. The micronucleus test was carried out using ICR mice at the age of 8 weeks. Three doses(862.5, 1725 and 3450 $\mu\textrm{g}$/kg) of DA-3030 were admintstered intraperitoneally with single shot and bone marrow cells were sampled at 24 hours after administration. Neither the number of polychromatic erythrocytes with micronuclei nor the ratio of normochromatic erythrocytes to polychromatic erythrocytes increased singinficantly in each dose, compared with a vehicle control. These results indicate that rhG-CSF has not mutagenic potential under the condiions.

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Computational Analysis of Neighboring Genes on Arabidopsis thaliana Chromosomes 4 and 5: Their Genomic Association as Functional Subunits

  • Goh, Sung-Ho;Kim, Tae-Hyung;Kim, Jee-Hyub;Nam, DouGu;Choi, Doil;Hur, Cheol-Goo
    • Genomics & Informatics
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    • v.1 no.1
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    • pp.40-49
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    • 2003
  • The genes related to specific events or pathways in bacteria are frequently localized proximate to the genome of their neighbors, as with the structures known as operon, but eukaryotic genes seem to be independent of their neighbors, and are dispersed randomly throughout genomes. Although cases are rare, the findings from structures similar to prokaryotic operons in the nematode genome, and the clustering of housekeeping genes on human genome, lead us to assess the genomic association of genes as functional subunits. We evaluated the genomic association of neighboring genes on chromosomes 4 and 5 of Arabidopsis thaliana with and without respectively consideration of the scaffold/matrix­attached regions (S/MAR) loci. The observed number of functionally identical bigrams and trig rams were significantly higher than expected, and these results were verified statistically by calculating p-values for weighted random distributions. The observed frequency of functionally identical big rams and trig rams were much higher in chromosome 4 than in chromosome 5, but the frequencies with, and without, consideration of the S/MAR in each chromosome were similar. In this study, a genomic association among functionally related neighboring genes in Arabidopsis thaliana was suggested.