• 한국환경성돌연변이발암원학회지
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• 제17권1호
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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.

• 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.

• 한국작물학회지
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• 제43권2호
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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.

• BMB Reports
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• 제46권6호
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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.

• BMB Reports
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• 제29권3호
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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.

• 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.

• 한국어류학회지
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• 제29권2호
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• pp.89-93
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• 2017

최근 신종으로 발표된 동방자가사리 Liobagrus hyeongsanensis의 핵형 분석을 위해 경상북도 경주시 양북면 일대에서 암컷 10마리와 수컷 5마리를 채집하였다. 동방자가사리의 염색체 수는 2n=42이었으며, 핵형은 30개의 중부염색체와 12개의 차중부염색체로 구성되어 있었다. FN 값은 84였으며, 암수 간 성적이형과 배수체는 관찰되지 않았다. 동방자가사리는 퉁가리속의 자가사리, 섬진자가사리와 염색체 수는 같았으나 핵형에서 차이를 보였다. 이러한 핵형의 차이는 지리적 격리로 인한 로버트슨 전좌(Robertsonian rearrangement)와 관련 있는 것으로 생각된다.

• 한국약용작물학회지
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• 제12권5호
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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.

• Molecules and Cells
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• 제43권5호
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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.

• 한국생물정보학회:학술대회논문집
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• 한국생물정보시스템생물학회 2003년도 제2차 연례학술대회 발표논문집
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• pp.183-192
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• 2003

With the availability of complete whole-genomes such as the human, mouse, fugu and chimpanzee chromosome 22, comparative analysis of large genomes from cross-species at varying evolutionary distances is considered one of a powerful approach for identifying coding and functional non-coding sequences. Here we describe a fast and efficient global alignment method especially for large genomic regions over mega bases pair. We used an approach for identifying all similarity regions by HSP (Highest Segment Pair) regions using local alignments and then large syntenic genome based on the both extension of anchors at HSP regions in two species and global conservation map. Using this alignment approach, we examined rearrangement loci in human chromosome 21 and chimpanzee chromosome 22. Finally, we extracted syntenic genome 30 Mb of human chromosome 21 with chimpanzee chromosome 22, and then identified genomic rearrangements (deletions and insertions ranging h size from 0.3 to 200 kb). Our experiment shows that all jnsertion/deletion (indel) events in excess of 300 bp within chimpanzee chromosome 22 and human chromosome 21 alignments in order to identify new insertions that had occurred over the last 7 million years of evolution. Finally we also discussed evolutionary features throughout comparative analyses of Ka/ks (non-synonymous / synonymous substitutions) rate in orthologous 119 genes of chromosome 21 and 53 genes of MHC-I class in human and chimpanzee genome.