• Title, Summary, Keyword: chromosome rearrangement

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Chromosome Rearrangements Detected by Fluorescence in situ Hybridization in Human Lymphocyte Exposed to Bleomycin (Fluorescence in situ hybridization (FISH)를 이용하여 분석한 Bleomycin에 의한 사람 림프구의 염색체 재배열)

  • 손은희;정경인;정해원
    • Environmental Mutagens and Carcinogens
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    • v.17 no.1
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    • pp.12-16
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    • 1997
  • Chromosome rearrangement induced by bleomycin were identified by fluorescence in situ hybridization with probe for chromosome 4. The frequency of color junctions, translocations, dicentric and acenttic fragments increased with bleomycin dose. Different types of balanced translocation and dicentric were scored and compared. The frequency of cells exhibiting multiple aberration was higher compared to that of cells exposed to Gamma radiation suggesting that effect of bleomycin might be similar to that of high LET radiation.

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

  • 정해원;손은희;기혜성;하성환
    • Environmental Mutagens and Carcinogens
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    • v.16 no.2
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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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Comparative RFLP Analysis of Chromosome 2M of Aegilops comosa Sibth et Sm. Relative to Wheat (T. aestivum L.)

  • Park, Y. J.;Shim, J. W.
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.43 no.2
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    • pp.120-123
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    • 1998
  • Based on the co-linearity in the Triticeae, comparative RFLP analysis of 2M chromosome of Ae. comosa Sibth et Sm. was performed with 2MS and 2M additional lines of Triticum aestivum L. cv. Chinese Spring. Among the wheat RFLP probes conserved in the short arms of wheat chromosome 2, those above psr912 were located on the long arms of 2M in Aegilops comosa. The rest probes on the short arm and all the probe sequences on the long arm of group 2 chromosome in wheat were conserved on the equivalent chromosomal position in Aegilops comosa. So, it is apparent that some chromosomal segment from the short arm had been transferred to long arm while reconstructing 2M chromosome relative to wheat chromosomes. The break-point was located between psr912 and psr131 of the short arm. This rearrangement of chromosome 2M might be a molecular evidence of the M genome speciation from an ancestral type.

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Acceleration of X-chromosome gene order evolution in the cattle lineage

  • Park, Woncheoul;Oh, Hee-Seok;Kim, Heebal
    • BMB Reports
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    • v.46 no.6
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    • pp.310-315
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    • 2013
  • The gene order on the X chromosome of eutherians is generally highly conserved, although an increase in the rate of rearrangement has been reported in the rodent lineage. Conservation of the X chromosome is thought to be caused by selection related to maintenance of dosage compensation. However, we herein reveal that the cattle (Btau4.0) lineage has experienced a strong increase in the rate of X-chromosome rearrangement, much stronger than that previously reported for rodents. We also show that this increase is not matched by a similar increase on the autosomes and cannot be explained by assembly errors. Furthermore, we compared the difference in two cattle genome assemblies: Btau4.0 and Btau6.0 (Bos taurus UMD3.1). The results showed a discrepancy between Btau4.0 and Btau6.0 cattle assembly version data, and we believe that Btau6.0 cattle assembly version data are not more reliable than Btau4.0.

Detection of the BCR/abl Gene Rearrangement by Reverse Transcriptase Based Polymerase Chain Reaction

  • Lee, Kyung-Ok;Park, Young-Suk;Kim, Yong-Woo;Han, Jung-A;Kim, Yoon-Jung
    • BMB Reports
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    • v.29 no.3
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    • pp.241-247
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    • 1996
  • The Philadelphia (Ph) chromosome is the single most intensively studied chromosome alteration characterizing a human malignancy. The specific genetic alteration of chronic myelogenous leukemia (CML) is the formation of the BCR/abl fusion gene in leukemic cells. The presence of the BCR/abl gene has important diagnostic and prognostic implications in CML. The detection of BCR/abl transcripts by reverse transcriptase based polymerase chain reaction (RT-PCR) was investigated in patients with CML in whom the Ph chromosome abnormality was documented by cytogenetic analysis. In a total of 68 CML patient cases, the Ph chromosome was found in 53 cases (77.9%) by cytogenetic analysis. On the other hand, sixty two cases (91.2%) were detected to have BCR/abl gene rearrangement Of these, b3a2 was 44 cases (64.7%) and b2a2 was 17 cases (25,0%). There was one case with both b3a2 and b2a2 (1.5%). Of the fifteen cases of Ph chromosome negative by cytogenetic anlaysis, the BCR/abl gene was observed in nine cases, The results of BCR/abl fusion gene confirmed by the direct sequencing method correlated well with PCR analysis, The amplified PCR products were detected by $1{\times}10^{-5}$ dilutions. In conclusion, PCR technique is sensitive, rapid and relatively simple for a laboratory test in detecting the BCR/abl fusion gene with CML regardless of the result of cytogenetic analysis.

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

  • Oh, S.K.;Lee, H.H.;Moon, S.Y.;Chang, Y.S.
    • Clinical and Experimental Reproductive Medicine
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    • v.12 no.2
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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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Formation of a New Solo-LTR of the Human Endogenous Retrovirus H Family in Human Chromosome 21

  • Huh, Jae-Won;Kim, Dae-Soo;Ha, Hong-Seok;Kim, Tae-Hong;Kim, Wook;Kim, Heui-Soo
    • Molecules and Cells
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    • v.22 no.3
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    • pp.360-363
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    • 2006
  • Human endogenous retroviruses (HERVs) contribute to various kinds of genomic instability via rearrangement and retrotransposition events. In the present study the formation of a new human-specific solo-LTR belonging to the HERV-H family (AP001667; chromosome 21q21) was detected by a comparative analysis of human chromosome 21 and chimpanzee chromosome 22. The solo-LTR was formed as a result of an equal homologous recombination excision event. Several evolutionary processes have occurred at this locus during primate evolution, indicating that mammalian-wide interspersed repeat (MIR) and full-length HERV-H elements integrated into hominoid genomes after the divergence of Old World monkeys and hominoids, and that the solo-LTR element was created by recombination excision of the HERV-H only in the human genome.

Karyotype Analysis of an Endemic Korean Torrent Catfish Liobagrus hyeongsanensis(Siluriformes: Amblycipitidae) (한국 퉁가리속 고유종 동방자가사리 Liobagrus hyeongsanensis의 핵형 분석)

  • Cho, Yun Jeong;Park, Jong Young
    • Korean Journal of Ichthyology
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    • v.29 no.2
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    • pp.89-93
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    • 2017
  • For the karyotype analysis of Liobagrus hyeongsanensis, an endemic Korean torrent catfish, ten females and five males were used from Yangbuk-myeon, Gyeongju-si, Gyeongsangbukdo, Korea. The diploid number of chromosomes was 42, and its karyotype consisted of 30 metacentrics and 12 submetacentrics; 84 FN (fundamental number), with having no polyploidy and sexual dimorphism. The chromosome number was the same as other closely-related species, L. mediadiposalis and L. somjinensis, but their karyotypes showed a clear difference by species. Such result may be related to chromosomal rearrangements by Robertsonian rearrangement with geographical isolation.

Cytogenetic Analysis of Four Hosta Species Native to Korea

  • Kim, Hyun-Hee;Park, Young-Wook;Yoon, Pyung-Sub;Choi, Hae-Woon;Bang, Jae-Wook
    • Korean Journal of Medicinal Crop Science
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    • v.12 no.5
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    • pp.397-400
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    • 2004
  • The chromosome numbers and karyotypes were investigated in four Korean native species of the genus Hosta. The chromosome complements were diploid of 2n=60 in H. japonica var. lancifolia Nakai and H. capitata Nakai, aneuploid of 2n=59 in H. minor (Bak.) Nakai, and modified triploid of 2n=92 in H. longipes (Fr. et Sav.) Matsumura. All the species carried four sets of distinctly large chromosomes of which the chromosome types were telocentrics or subtelocentrics with $4.4{\sim}7.2\;{\mu}m$ in length. The other chromosomes were meta-, submeta, subtelo-, or telocentric types and showed gradual length degradation in the range of $1.0{\sim}3.0\;{\mu}m$. The satellites appeared vestigially in a pair or a triplet set of chromosomes which depends on the species. New chromosome number and karyotype in H. longipes were the first report in this species. The structural rearrangement was suggested to explain the modified triploid composition of 2n=92.

Gametophytic Abortion in Heterozygotes but Not in Homozygotes: Implied Chromosome Rearrangement during T-DNA Insertion at the ASF1 Locus in Arabidopsis

  • Min, Yunsook;Frost, Jennifer M.;Choi, Yeonhee
    • Molecules and Cells
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    • v.43 no.5
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    • pp.448-458
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    • 2020
  • T-DNA insertional mutations in Arabidopsis genes have conferred huge benefits to the research community, greatly facilitating gene function analyses. However, the insertion process can cause chromosomal rearrangements. Here, we show an example of a likely rearrangement following T-DNA insertion in the Anti-Silencing Function 1B (ASF1B) gene locus on Arabidopsis chromosome 5, so that the phenotype was not relevant to the gene of interest, ASF1B. ASF1 is a histone H3/H4 chaperone involved in chromatin remodeling in the sporophyte and during reproduction. Plants that were homozygous for mutant alleles asf1a or asf1b were developmentally normal. However, following self-fertilization of double heterozygotes (ASF1A/asf1a ASF1B/asf1b, hereafter AaBb), defects were visible in both male and female gametes. Half of the AaBb and aaBb ovules displayed arrested embryo sacs with functional megaspore identity. Similarly, half of the AaBb and aaBb pollen grains showed centromere defects, resulting in pollen abortion at the bi-cellular stage of the male gametophyte. However, inheritance of the mutant allele in a given gamete did not solely determine the abortion phenotype. Introducing functional ASF1B failed to rescue the AaBb- and aaBb-mediated abortion, suggesting that heterozygosity in the ASF1B gene causes gametophytic defects, rather than the loss of ASF1. The presence of reproductive defects in heterozygous mutants but not in homozygotes, and the characteristic all-or-nothing pollen viability within tetrads, were both indicative of commonly-observed T-DNA-mediated translocation activity for this allele. Our observations reinforce the importance of complementation tests in assigning gene function using reverse genetics.