• 제목/요약/키워드: chromosome

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다단계 다층 인공 신경회로망을 이용한 염색체 핵형 분류 (Chromosome Karyotype Classification using Multi-Step Multi-Layer Artificial Neural Network)

  • 장용훈;이권순;정형환;전계록
    • 대한의용생체공학회:학술대회논문집
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    • 대한의용생체공학회 1995년도 추계학술대회
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    • pp.197-200
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    • 1995
  • In this paper, we proposed the multi-step multi-layer artificial neural network(MMANN) to classify the chromosome, Which is used as a chromosome pattern classifier after learning. We extracted three chromosome morphological feature parameters such as centromeric index, relative length ratio, and relative area ratio by means of preprocessing method from ten chromosome images. The feature parameters of five chromosome images were used to learn neural network and the rest of them were used to classify the chromosome images. The experiment results show that the chromosome classification error is reduced much more, comparing with less feature parameters than that of the other researchers.

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Generation of FISH Probes Using Laser Microbeam Microdissection and Application to Clinical Molecular Cytogenetics

  • Shim, Sung-Han;Kyhm, Jee-Hong;Chung, Sung-Ro;Kim, Seung-Ryong;Park, Moon-Il;Lee, Chul-Hoon;Cho, Youl-Hee
    • Journal of Microbiology and Biotechnology
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    • 제17권7호
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    • pp.1079-1082
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    • 2007
  • Chromosome microdissection and the reverse FISH technique is one of the most useful methods for the identification of structurally abnormal chromosomes. In particular, the laser microbeam microdissection (LMM) method allows rapid isolation of a target chromosome or a specific region of chromosomes without damage of genetic materials and contamination. Isolated chromosomes were directly amplified by the degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR), and then the FISH probes labeled with spectrum green- or spectrum red-dUTP were generated by nick-translation. Whole chromosome painting (WCP) probes were successfully generated from only 5 copies of the chromosome. With this method, we produced 24 WCP probes for each human chromosome. We also tried to characterize a marker chromosome, which seemed to be originated from chromosome 11 on conventional banding technique. The marker chromosomes were isolated by the LMM method and analyzed by reverse FISH. We elucidated that the marker chromosome was originated from the short arm of chromosome 5 ($5p11{\to}pter$). A fully automated and computer-controlled LMM method is a very simple laboratory procedure, and enables rapid and precise characterization of various chromosome abnormalities.

염색체 이상 환자의 세포 유전학적 연구 (A Cytogenetic Study in Patients Referred for Suspected Chromosomal Abnormalities)

  • 오선경;이형환;문신용;장윤석
    • Clinical and Experimental Reproductive Medicine
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    • 제12권2호
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    • pp.39-57
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    • 1985
  • Presented in this paper the data from a chromosome study of 397 patients referred for suspected chromosmal abnormalities. Karyotypes were obtained using short-term blood culture and direct method. Of these 238 patients had normal chromosome complements; 159 (40.1%) patients had chromosome abnormality. Among all patients with chromosome abnormalities, 82.4% (131/159) had aberrations of chromosome number, the others 17.60/0 (28/159\ had aberrations of chromosome structure. Ten had a chromosome rearrangement; Five of them were reciprocal and five Robertsonian translocations. Four patients with pericentric inversions and one with paracentric inversions and four with isochromosomes were observed. There were four patients with marker chromosome, two patients had a chromosome insertion; and three others. (additional abnormal chromosomes.) Thus the results of the present study indicate the importance of cytogenetic evaluation in clinically abnormal patients.

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갈겨니 (Zacco temmincki)의 進化에 관한 硏究 II: 갈겨니 2型의 核型分析

  • 이혜영;조정우;양서영
    • 한국동물학회지
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    • 제29권3호
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    • pp.208-214
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    • 1986
  • 電氣泳動法에 의해 $Mdh-1^{MM}, Mdh-1^{MS}$ en allotype으로 분류된 경상남도 남해군 동천천産 갈겨니 (Zacco temmincki)의 核型을 비교하였다. 이들 두型의 염색체수는 2n=48로 동일하지만, 7번째 염색체는 $Mdh-1^{MM}$型은 Submetacentric chromosome, $Mdh-1^{MS}$型은 metacentric chromosome으로 큰 차이를 보였다. 따라서, $Mdh-1^{MM}$型은 6쌍의 metacentric chromosome과 6쌍의 submetacentric chromosome 및 12쌍의 acrocentric chromosome으로 구성되어 있으나, $Mdh-1^{MS}$型은 7쌍의 metacentric chromosome과 5쌍의 submetacentric chromosome 및 12쌍의 acrocentric chromosome으로 구성되어 있음을 알수 있다. 이러한 sympatric한 지역에서 이들 두型의 hybrid型이 존재하지 않는 점으로 보아 이들사이에는 生殖的 隔離가 일어난 것으로 추측된다.

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자외선(UVB)에 의한 염색체이상과 Tannic acid의 방어효과 (Suppressing Effects of Tannic Acid on UVB induced Chromosome Aberrations in Chinese Hamster Lung Cells)

  • 김정현;맹승희;임철홍;안령미
    • 한국환경성돌연변이발암원학회지
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    • 제17권1호
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    • pp.17-22
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    • 1997
  • We observed the frequency of chromosome aberrations induced by UVB irradiations, and the suppressing effect of tannic acid on chromosome aberrations induced by UVB irradiations in CHL cells, which is a phenolic compound, a hydrolysate of tannin and a components of green tea. UVB doses used for the frequency of chromosome aberrations were from 0.2 to 1.6 KJ/m$^2$ and tannic acid concentrations were from 1.16 $\mu$g/ml to 37.50 $\mu$g/ml. For the observation of suppressing effect of tannic acid on UVB-induced chromosome aberrations, UVB dose was 1.6 KJ/m$^2$ and tannic acid concentrations were 1.0, 2.0, 4.0 $\mu$g/ml. In our study, tannic acid was treated for 24 hours in CHL, cells after UVB irradiation without S9 mix or for 6 hours with S9 mix. From this study, we obtained the following results : (1) The frequency of chromosome aberrations UVB induced were dose-dependently increased. (2) The tannic acid did not induce chromosome aberrations in cultured Chinese hamster cells. (3) UVB-induced chromosome aberrations were suppressed by tannic acid at every concentration from 1.0 $\mu$g/ml to 4.0 $\mu$g/ml with or without metabolic activation. These results suggest that the tannic acid acts as an inhibitor to UVB-induced clastogenicity of the cultured cell.

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벤젠 대사산물에 의해 유도된 HL-60 세포의 8번 및 21번 염색체의 이수성 및 상호전좌 (Detection of Benzene Metabolite Induced Aneuploidy and Translocation in HL-60 Cells by Fluorescence in situ Hybridization using Whole Chromosome-specific Probes for Chromosome 8 and 21)

  • 김수영;정해원
    • 한국환경성돌연변이발암원학회지
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    • 제22권2호
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    • pp.90-96
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    • 2002
  • Benzene is a widespread human carcinogen, inducing leukemia and hematotoxicity. Exposure to benzene metabolites has been shown to cause genetic damage, including aneusomy and chromosome aberrations. Fluorescence in situ hybridization(FISH) procedure was used to determine if the benzene metabolite, 1, 2, 4-benzenetriol(BT), hydroquinone(HQ) and trans, trans-muconic acid(t,t-MA) induced specific chromosomal change in HL-60 cells. Treatment with BT, HQ and t,t-MA resulted in the induction of monosomy 8 and 21 in HL-60 cells in a dose-dependent manner. All of these metabolites also induced trisomy 8 and 21, but no correlation between frequencies of trisomy and concentration was found. Translocations between chromosome 8 and another unidentified chromosome [t(8:\ulcorner)], and between chromosome 21 and another unidentified chromosome [t(8:21)] were found. However, translocation between chromosome 8 and 21 [t(8:21)] was not found. Results indicate that the benzene metabolites, BT, HQ and t,t-MA, induce chromosome specific numerical and structural aberrations, and the fluorescence in situ hybridization (FISH) approach may be a useful and powerful technique for detection of aneuploidy.

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Reanalysis of Ohno's hypothesis on conservation of the size of the X chromosome in mammals

  • Kim, Hyeongmin;Lee, Taeheon;Sung, Samsun;Lee, Changkyu;Kim, Heebal
    • Animal cells and systems
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    • 제16권6호
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    • pp.438-446
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    • 2012
  • In 1964, Susumu Ohno, an evolutionary biologist, hypothesized that the size of X chromosome was conserved in mammalian evolution, and that this was based on chromosomal length. Today, unlike Ohno's method which was based on estimated lengths, we know the exact lengths of some mammalian sequences. The aim of this study was to reanalyze Ohno's hypothesis. In mammalian species, variation in the length of the X chromosome is greater than in the autosomes; however, this variation is not statistically significant. This means that differences in chromosomal length occur equally in the X chromosome and in the autosomes. Interspersed nuclear elements and genetic rearrangements were analyzed to maintain the same variance between the length of the X chromosome and the autosomes. The X chromosome contained fewer short interspersed elements (SINEs) (0.90 on average); however, it did contain more long interspersed elements (LINEs) than did autosomes (1.56 on average). An overall correlation of LINEs and SINEs with genetic rearrangements was observed; however, synteny breaks were more closely associated with LINEs in the autosomes, and with SINEs in the X chromosome. These results suggest that the chromosome-specific activities of LINEs and SINEs result in the same variance between the lengths of the X chromosome and the autosomes. This is based on the function of interspersed nuclear elements, such as LINEs, which can inactivate the X chromosome and the reliance of non-autonomous SINEs on LINEs for transposition.

Xylan 대사유전자를가진미니효모인공염색체의가공및 Mitotic Stability 분석 (Manipulation of Mini-Yeast Artificial Chromosome Containing Xylan Metabolism Related Genes and Mitotic Stability Analysis in Yeast)

  • 강다인;김연희
    • 한국미생물·생명공학회지
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    • 제50권3호
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    • pp.436-440
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    • 2022
  • 본 연구에서는 염색체가공기술을 이용하여 xylan으로부터 다양한 대사산물을 생산할 수 있는 유전자를 도입한 효모인 공염색체를 구축하였다. 효율적인 염색체가공기술인 PCS법을 이용하기 위해 염색체 splitting에 필요한 splitting fragment (DNA module)를 각각 제작하였고, xylan 대사에 관여하는 유전자군을 가진 YKY164 균주에 형질전환하였다. 두번의 염색체 splitting에 의해 1,124 kb의 효모 7번염색체는 887 kb-YAC, 45 kb-mini YAC와 198 kb-YAC로 가공되었으며, 총 18개의 염색체를 가진 YKY183 균주를 구축하였다. 염색체가공을 위한 splitting efficiency는 50-78%였으며, 45 kb-mini YAC 상에 있는 외래유전자의 발현 및 효소활성은 염색체가공 전과 비교하여 유의미한 변화 및 저하는 관찰되지 않았다. 또한 생산된 재조합효소에 의한 xylan의 분해산물을 확인하였으며, 160 generation 동안 미니 효모인 공염색체는 염색체의 결실없이 안정적인 mitotic stability를 유지하였다.

FISH(Fluorescence in situ hybridization)를 이용하여 분석한 방사선에 의해 유발된 림프구의 염색체 이상 (Radiation induced Chromosome aberration in human Iymphocyte detected by Fluorescence in sifu hybridization)

  • 정해원;손은희;기혜성;하성환
    • 한국환경성돌연변이발암원학회지
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    • 제16권2호
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    • pp.88-96
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    • 1996
  • Fluorescence in situ hybridization (FISH) with the DNA probe for human chromosome 4 was used to analyse in vitro radiation induced chromosome rearrangement in peripheral lymphocyte. Translocations, dicentrics, acentrics and color junctions involving the painted chromosome were scored according to the Protocol for Aberration Identification and Nomenclature Terminology (PAINT) system. The frequency of chromosome rearrangements including reciprocal translocation, dicentric, acentric fragment and color junction increased with radiation dose. The frequency of dicentric chromosome reduced by the fixation time following irradiation, whereas that of translocation was relatively persistent. The applicability of FISH for scoring stable translocation for biological dosimetry was demonstrated.

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X-Chromosome Inactivation: A Complex Circuits regulated by Non-coding RNAs and Pluripotent Factors

  • Hwang, Jae Yeon;Lee, Chang-Kyu
    • Reproductive and Developmental Biology
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    • 제41권2호
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    • pp.33-40
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    • 2017
  • X-chromosome inactivation is one of the most complex events observed in early embryo developments. The epigenetic changes occurred in female X-chromosome is essential to compensate dosages of X-linked genes between males and females. Because of the relevance of the epigenetic process to the normal embryo developments and stem cell studies, X-chromosome inactivation has been focused intensively for last 10 years. Initiation and regulation of the process is managed by diverse factors. Especially, proteins and non-coding RNAs encoded in X-chromosome inactivation center, and a couple of transcription factors have been reported to regulate the event. In this review, we introduce the reported factors, and how they regulate epigenetic inactivation of X-chromosomes.