• Title/Summary/Keyword: chromosomal

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Assessment of Chromosomal Analyses of 1,180 Cases Suspected of Chromosomal Aberrations (염색체이상을 의심한 1,180례의 염색체 분석 결과 검토)

  • Jeong, Hyeon Kyoung;Ahn, Eun Young;Rim, Sung Soo;Kim, Eun Young;Kim, Kyoung Sim;Kim, Yong Wook;Kim, Ki Bok
    • Clinical and Experimental Pediatrics
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    • v.45 no.3
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    • pp.311-319
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    • 2002
  • Purpose : We have performed this study to obtain reference data for the distribution of chromosomal aberrations in Korea. Methods : We analyzed 1,180 chromosomal study cases from Kwang ju Christian Hospital during the past 25 years. 756 cases suspected of characteristic chromosomal aberration syndromes and 424 cases with hermaphroditism, mild sexual abnormalities, multiple anomalies, or mental & growth retardation were included. Results : The male to female ratio of autosomal aberration syndromes was 1.2 : 1. 78.6% of autosomal aberrations were diagnosed under 1 year of age, whereas 89.8% of sex chromosomal aberrations were diagnosed over 12 years of age. Among 1,180 cases, 612 ones had chromosomal aberrations(51.9%) : 590 of 756 cases suspected of chromosomal aberration syndromes had aberrations( 78.0%), whereas 22 of 424 showing the above other features had aberrations(5.2%). Autosomal aberrations appeared in 514 cases(83.8%) and sex chromosomal aberrations appeared in 98 cases(16.2%). The most frequently observed abberation in autosomal aberrations was Down syndrome, followed by E, D, B, A and C group aberrations. The most common abberation in sex chromosomal aberrations was Turner syndrome, followed by Klinefelter syndrome and Fragile X syndrome. Conclusion : It is of vital importance that patients suspected of chromosomal aberrations undergo chromosomal analysis. Further advanced chromosomal staining and molecular genetic methods will raise the detection rate of chromosomal aberrations.

Effect of Zebularine on Chromosomal Association between Meiotic Homoeologous Chromosomes in Wheat Genetic Background (Triticum aestivum L.) (제부라린이 생식세포분열 동안 동조 염색체 사이의 염색체 접합에 미치는 영향)

  • Cho, Seong-Woo;Ishii, Takayoshi;Tsujimoto, Hisashi
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.66 no.4
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    • pp.318-325
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    • 2021
  • The objective of this study was to identify the effect of zebularine, a DNA methylation inhibitor, on the chromosomal association between homoeologous chromosomes in the wheat genetic background. Zebularine at a final concentration of 10 µM was used to treat the spikes of the double monosomic wheat addition line (DMA) with one Leymus mollis chromosome and one Leymus racemosus chromosome, both of which were in a homoeologous relationship. In late prophase, zebularine led to chromosome breakage in the Leymus homoeologous chromosomes. Chromosome breakage caused an increase in the frequency of chromosomal associations between the Leymus homoeologous chromosomes. Ordinary DMA showed 65 cells (35.3%) with chromosomal associations and 119 cells (64.7%) with no association, whereas treated DMA showed 102 cells (60.0%) with chromosomal associations and 67 cells (39.4%) with no association. In diakinesis, the Leymus bivalent showed a chromosomal association in the whole euchromatic region. In metaphase, the Leymus bivalent showed association in the whole chromosomal region, unlike other Leymus bivalents with partial chromosomal association. Chromosomal association by chromosome breakage occurred not only between Leymus chromosomes but also between Leymus and wheat chromosomes. The frequency of other chromosomal association (such as fusion and insert) was increased. Chromosome breakage by zebularine treatment is a useful method at the chromosome level as the spores with others are hereditary stable, although the homologous index (h) was not significantly different between ordinary DMA and treated DMA. It is necessary to study how to control zebularine treatment with a more stable concentration for chromosome breakage during meiosis.

Antimutagenic Effects of Ginsenoside Rb$_1$, Rg$_1$ in the CHO-K1 Cells by Benzo[a]pyrene with Chromosomal Aberration Test and Comet Assay

  • Kim, Jong-Kyu;Kim, Soo-Jin;Rim, Kyung-Taek;Cho, Hae-Won;Kim, Hyeon-Yeong;Yang, Jeong-Sun
    • Molecular & Cellular Toxicology
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    • v.5 no.2
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    • pp.126-132
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    • 2009
  • The usage and types of chemicals are advancing, specializing, large-scaled increasing, and new chemical exposed workers are concerning to occupational disease. The generation of reactive oxygen in the body from carcinogen, mutation and DNA damage in cancer is protected by natural antioxidants (phytochemicals) with antimutagenic effect. There were many reports of ginsenoside Rb$_1$, Rg$_1$ grievances of the genetic mutation to suppress the effect confirm the genetic toxicity test with chromosomal aberration test and the Comet (SCGE) assay confirmed the suppression effect occurring chromosomal DNA damage. We had wanted to evaluate the compatibility and sensitivity between the chromosomal aberration (CA) test and the Comet assay. We used the CA test and Comet assay to evaluate the anti-genotoxicity of ginsenoside Rb$_1$ and Rg$_1$, in CHO-K1 (Chinese hamster ovary fibroblast) cell in vitro, composed negative control (solvent), positive control (benzo[a]pyrene), test group (carcinogen+variety concentration of ginsenoside) group. The positive control was benzo[a]pyrene (50 $\mu$M), well-known carcinogen, and the negative control was the 1 % DMSO solvent. The test group was a variety concentration of ginsenoside Rb$_1$, Rg$_1$ with 10$^{-8}$%, 10$^{-6}$%, 10$^{-4}$%, 10$^{-2}$%, 1%, 10%. In chromo-somal aberration test, we measured the number of cells with abnormally structured chromosome. In Comet assay, the Olive tail moment (OTM) and Tail length (TL) values were measured. The ratio of cell proliferation was increased 8.3% in 10$^{-8}$%, 10$^{-6}$%, 10$^{-4}$%, 10$^{-2}$%, 1%, 10% Rb$_1$ treated groups, and increased 10.4% in 10$^{-10}$%, 10$^{-8}$%, 10$^{-6}$%, 10$^{-4}$%, 10$^{-2}$%, 1% Rg$_1$ treated groups. In the CA test, the number of chromosomal aberration was decreased all the Rb$_1$ and Rg$_1$ treated groups. In the Comet assay, the OTM values were decreased in all the Rb$_1$ and Rg$_1$ treated groups. To evaluate the compatibility between CA and Comet assay, we compared the reducing ratio of chromosomal abnormalities with its OTM values, it was identified the antimutagenicity of ginsenoside, but it was more sensitive the CA test than the Comet assay. Ginsenoside Rb$_1$ and Rg$_1$ significantly decrease the number of cells with chromosomal aberration, and decrease the extent of DNA migration. Therefore, ginsenoside Rb$_1$, Rg$_1$ are thought as an antioxidant phytochemicals to protect mutagenicity. The in vitro Comet assay seems to be less sensitive than the in vitro chromosomal aberration test.

Effect of Radiotherapy on Chromosomal Aberration in Cancer Patients (암환자에서 방사선치료에의한 염색체이상)

  • Chun, Ha-Chung;Lee, Myung-Za;Yoo, Myung-Soo
    • Radiation Oncology Journal
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    • v.11 no.1
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    • pp.43-50
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    • 1993
  • We evaluated frequency and types of chromosomal aberrations by ionizing radiation in cancer patients treated with radiotherapy in our institution. Twenty-five patients with various types of carcinomas such as lung, uterine cervix, esophagus, rectum, head and neck and pancreatic cancers were studied immediately before and after external beam radiotherapy. The frequency of aberrant metaphase prior to treatment was $4.93{\%}$, which was higher than that of control group. Especially in lung cancer, the freuqency of aberrant metaphase was three times higher than control group. A comparison of chromosomal abnormalities observed before and after radiotherapy demonstrated that proportion of aberrant rnetaphases was significantly inreased to $22.13{\%}$. Major chromosomal aberrations like structural abnormalities showed remarkalbe increase from 65.45 to $88.45{\%}$ after the treatment. Also the numbers of chromosomal alterations per cell were increased by a factor of 6.5. Aberrations with two or more break points were more prominently increased, compared with aberrations with single break point. The number of chromosomal break points was noted to be higher than expected value in No.1, 3, 8 and 11 chromosomes and lower in No.13, 15, 17 and 21 chromosomes. Based on this study, we believe that the distribution of chromosomal breakage is related with gene and chromosomal rearrangement which could result in the development of cancers.

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A Study on Chromosomal Mosaicism Detected through Cytogenetic Analysis

  • Hwang, Si-Mok;Kwon, Kyoung-Hun;Yoon, Kyung-Ah
    • Biomedical Science Letters
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    • v.17 no.2
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    • pp.129-134
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    • 2011
  • Mosaicism is the presence of two or more chromosomally distinct cell lines, each seen in two or more cells. Chromosomal mosaicism presents one of the most difficult problems in prenatal cytogenetic diagnosis, requiring the differentiation of true mosaicism from pseudomosaicism. To overcome associated problems we investigated 24 cases (amniotic fluid 13 cases, abortus tissue 3 cases, peripheral blood 8 cases) in which mosaicism has been found in cytogenetic analysis. 5 cases (38.5%) of 13 amniotic fluid cells in which mosaicisms showed single cell pseudomosaicism. Chromosomal true mosaicism is found in about 0.28% (8/2,826) of amniotic fluid cell cultures. The 24 cases involved 12 cases (50%) with sex chromosomal abnormalities, 7 cases (29.2%) with autosomal structural defects, 3 cases (12.5%) with autosomal abnormalities, 2 cases (8.3%) with a supernumerary marker. Mosaicism detected in amniotic fluid may represent the true mosaicism or may pseudomosaicism. If the same chromosome abnormality is seen in more than one cell and in two different cultures, it is considered a true mosaicism, whereas single-cell abnormalities from a single culture are regarded as pseudomosaicism. In this study, we describe a mosaicism in chromosome analysis, its diagnostic problems and clinical significance.

Analysis of Cytogenetics Diagnosis: form 30 Years Experience at Kwangju Christian Hospital (광주기독병원 30년간 세포유전학적 검사결과의 고찰)

  • Kim, Yoon Sik;Kee, Won Jin;Back, Hae Kyong;Lee, Sang Ho;Shin, Jin Ho
    • Korean Journal of Clinical Laboratory Science
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    • v.36 no.2
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    • pp.205-209
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    • 2004
  • This study was carried out to review and evaluate a total of 2,463 cases of human chromosomal analysis at Kwangju Christian Hospital from 1974 to 2004. We collected 2.0-3.0ml of human peripheral blood in heparized bottle. Then, we cultured it for 72 hours. We performed GTG-banding and chromosomal kayotyping analysis by Cytovision kayotyping system. Abnormal karyotypes were observed in 30.5% of the total cases (750/2,463). Autosome and sex chromosome anomalies were observed in 25.8% (635/2,463) and 4.7% (115/2,463) respectively. In a total of 2463 cases, there were 522 (22.4%) cases of Down's syndrome karyotype, and 67 (2.7%) cases of Turner syndrome. In conclusion, Down's syndrome has decreased after the end of the 1990s, but other (Turner syndrome et al.) chromosomal abnormal cases haven't decreased after the1970s.

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Chromosomal studies on the genus of Rhizopus -II. Chromosomal studies on 17 species of the genus Rhizopus- (Rhizopus屬의 染色體에 關한 硏究(第二報) -II. Rhizopus 17種에 對하여-)

  • Min, Byung-Re
    • Korean Journal of Microbiology
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    • v.22 no.3
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    • pp.197-205
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    • 1984
  • After the previous paper, this chromosomal studies on the fungi were dealt with 17 species in genus of Rhizopus. The results are sumarized as the followings; The haploid chromosome number of 17 species were confirmed as of 6(Rh. oligosporus), 8(Rh. homothallicus, Rh. liquefaciens, Rh. shanghaiensis, Rh, acetorinus), 12(Rh. microsporus, Rh. pseudochinensis, Rh, rhizopodiformis, Rh, thermosus, and Rh. kazanensis), 14(Rh. stolonifer), and 16(Rh. suinus), respectively. Referring to the above fact and the previous paper, it is strongly presumed that the basic chromosome number of Rhizopus are 4.

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Genotoxicity Study of CJ-11555 (CJ-11555의 유전독성에 관한 연구)

  • 박지은;이성학;최재묵;김일환;김덕열;노현정;김택로;김영훈;임지웅
    • Toxicological Research
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    • v.20 no.2
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    • pp.153-158
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    • 2004
  • To evaluate the genotoxicity of CJ-11555, an anti-cirrhotic agent, the reverse mutation test, chromosomal aberration test and in vivo micronucleus test in rats were performed. In the reverse mutation test, the treatment of CJ-11555 at doses of 33.3, 100, 333, 1000, 3330 and 5000 $\mu\textrm{g}$/plate with and without 89 did not induce mutagenicity in Salmonella typhimurium TA98, TA100, TA1535, TA1537, and Escherichia coli (E. call) WP2uvrA. In chromosomal aberration test, CJ-11555 did not induce structural a chromosomal aberration in Chinese hamster ovary (CHO) cells with and without metabolic activation at all doses. In micronucleus test, CJ-11555 did not induce any statistically significant increases in micronucleated polychromatic erythrocyte (MNPCE) at doses of 500, 1000, and 2000 mg/kg. These results suggest that CJ-11555 might not have a mutagenic potential under the conditions in this study.

Sexing of Mouse Embryos by Chromosomal Analysis (염색체 분석에 의한 생쥐 수정란의 성감별)

  • 한용만;김종배;박홍양;정길생;이경광
    • Korean Journal of Animal Reproduction
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    • v.10 no.1
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    • pp.36-41
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    • 1986
  • These experiments were carried out to obtain basic information necessary for sexing embryos by chromosomal analysis. To observe metaphase chromosomes, all embryos developed to blastocysts were cultured in Ho, pp. & Pitts' medium containing 0.001% Colcemid under the gas phase of 5% CO2 in air at 37$^{\circ}C$ for 2 hours. The sex chromosome of mouse embryos shown normal development after culture in medium containing H-Y antiserum (10%, v/v) and complement (20%, v/v) also was confimed by chromosomal analysis. The results obtained in these experiments were summarized as follows: 1. Among 89 mouse blastocysts, the number of embryos identified to have XX and XY chromosome was 22(25%) and 25(28%), respectively and 42(47%) embryos were not identified. 2. Of total 40 mouse balstocysts cultured in medium containing H-Y antiserum and complement, 23(58%) embryos which were able to be discriminated their sex chromosomes were identified to be XX bearing embryos. 3. Sex chromosomes of a number of embryos subjected to chromosomal analysis were not identified. This result may be due to absence or poor quality of metaphase spreads.

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Chromosomal Aberrations in Chinese Hamster Ovary Cells Induced by Kojic Acid (Kojic Acid에 의해 유기된 Chinese Hamster 난소세포의 염색체 변이)

  • Lee, Yang-Soon;Wei, Cheng-I
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.21 no.4
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    • pp.454-459
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    • 1992
  • Kojic acid, a fungal metabolite produced by some species of Aspergillus and Penicillium, was found to induce chromosomal aberrations in Chinese hamster ovary cells in the presence or absence of the rat liver homogenate (59 mix). All categories of chromosomal aberrations increased with increased doses of kojic acid. Based on the this result, kojic acid was assumed to be a kind of mutagens. On the potential toxicity of this compound it becomes evident that kojic acid would not be used as a food additive at this time.

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