• 제목/요약/키워드: Chromosome aberrations

검색결과 127건 처리시간 0.024초

Importance of FISH combined with Morphology, Immunophenotype and Cytogenetic Analysis of Childhood/Adult Acute Lymphoblastic Leukemia in Omani Patients

  • Goud, Tadakal Mallana;Al Salmani, Kamla Khalfan;Al Harasi, Salma Mohammed;Al Musalhi, Muhanna;Wasifuddin, Shah Mohammed;Rajab, Anna
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권16호
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    • pp.7343-7350
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    • 2015
  • Genetic changes associated with acute lymphoblastic leukemia (ALL) provide very important diagnostic and prognostic information with a direct impact on patient management. Detection of chromosome abnormalities by conventional cytogenetics combined with fluorescence in situ hybridization (FISH) play a very significant role in assessing risk stratification. Identification of specific chromosome abnormalities has led to the recognition of genetic subgroups based on reciprocal translocations, deletions and modal number in B or T-cell ALL. In the last twelve years 102 newly diagnosed childhood/adult ALL bone marrow samples were analysed for chromosomal abnormalities with conventional G-banding, and FISH (selected cases) using specific probes in our hospital. G-banded karyotype analysis found clonal numerical and/or structural chromosomal aberrations in 74.2% of cases. Patients with pseudodiploidy represented the most frequent group (38.7%) followed by high hyperdiploidy group (12.9%), low hyperdiploidy group (9.7%), hypodiploidy (<46) group (9.7%) and high hypertriploidy group (3.2%). The highest observed numerical chromosomal alteration was high hyperdiploidy (12.9%) with abnormal karyotypes while abnormal 12p (7.5%) was the highest observed structural abnormality followed by t(12;21)(p13.3;q22) resulting in ETV6/RUNX1 fusion (5.4%) and t(9;22)(q34.1;q11.2) resulting in BCR/ABL1 fusion (4.3%). Interestingly, we identified 16 cases with rare and complex structural aberrations. Application of the FISH technique produced major improvements in the sensitivity and accuracy of cytogenetic analysis with ALL patients. In conclusion it confirmed heterogeneity of ALL by identifying various recurrent chromosomal aberrations along with non-specific rearrangements and their association with specific immunophenotypes. This study pool is representative of paediatric/adult ALL patients in Oman.

Genetic aberrations on the short arm of chromosome 8 (8p) in tongue carcinomas

  • Murano, Akiyuki;Ono, Kanae;Koike, Hirofumi;Endo, Yosuke;Shimada, Ken;Kawasaki, Kenshi;Nomura, Hitomi;Shiiba, Masashi;Uzawa, Katsuhiro;Tanzawa, Hideki
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • 제38권2호
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    • pp.121-126
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    • 2012
  • Aberrations on the short arm of chromosome 8 (8p) are frequently observed in several human cancers. In this study, 20 squamous cell carcinoma (SCC) specimens from the tongue were examined in order to evaluate the role of 8p in SCC of the tongue. Microsatellite analysis using 14 markers demonstrated two commonly deleted regions (CDRs) on 8p. Reverse transcription-polymerase chain reaction (RT-PCR) revealed frequent down-regulation of the FEZ1 gene, mapped to 8p22, and frequent over-expression of the cathepsin B gene, mapped to 8p-21-22. These results suggested that genetic aberrations are involved in the development of SCC of the tongue. However, no significant relationship was observed to be established between the genetic alterations and clinicopathological features. Thus, further investigation is necessary in order to clarify the clinical role of 8p in carcinoma of the tongue.

고혈압 치료제 SKP-450의 유전독성평가 (Genotoxicify Studies of on Antihypertensive Agent, SKP-450)

  • 하광원;오혜영;박장환;허옥순;손수정;한의식;류근호;조용백
    • 한국환경성돌연변이발암원학회지
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    • 제18권2호
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    • pp.123-128
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    • 1998
  • To evaluate the genotoxicity of SKP-450, an antihypertensive agent the in vitro reverse mutation assay using Salmonella typhimurium, the Chromosome aberration assay using Chinese hamster lung (CHL) cells and the in vivo micronucleus assay using bone marrow cells of ddY mice were performed. In the Reverse mutation test, SKP-450 did not induced mutagenicity in Salmonella typhimurium TA 98, TA 100, TA 1535 and TA 1537 with and without metabolic activation. In the chromosome aberration assay using CHL cells, there was no increased incidence of structural and numerical aberrations with and without metabolic activation. The in vivo induction of micronuclei was measured in polychromatic erythrocytes of bone marrow of male ddY mice at 30 hours after treatment with SKP-450 by p.o once. The results showed no increased incidence of micronucleated polychromatic erythrocytes in bone marrow of ddY male mice treated with SKP-450.

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옻나무 추출액(Rhus-II)의 안전성에 관한 유전독성학적 평가 (Genotoxicicological Safety Estimate for the Rhus-II)

  • 최창순;한동운
    • 한국식품위생안전성학회지
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    • 제20권1호
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    • pp.18-21
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    • 2005
  • These observations were performed to investigate the safety of the natural herbs (Rhus-II) in respect of genotoxicity. This substance was examined in two in-vitro tests: (1) Salmonella typhimurium reversion assay (Ames test) in strain TA 98, TA 100, TA 1535 and TA 1537, (2) in vitro chromosome aberration test in cultured Chinese hamster ovary (CHO) cells. In the reverse mutation test, Rhus-II did not induced mutagenicity in Salmonella typhimurium reversion assay(Ames test) with or without metabolic activation. In the chromosome aberration assay using CHO cells, there was no increased incidence of structural and numerical aberrations with or without metabolic activation. These results indicated that, the Rhus-II had no genotoxicity.

성염색체이상증후군의 핵형 분석 (A Cytogenetic Study in Patients with Sex Chromosome Abnormalities)

  • 서현지;이지혜;이흥교;정승희;이건수
    • Clinical and Experimental Pediatrics
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    • 제48권12호
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    • pp.1317-1323
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    • 2005
  • 목 적 : 성염색체이상증후군은 사춘기 이후 이차 성징의 결여로 그 증상이 뚜렷해지므로 사춘기 이전의 진단은 쉽지 않다. 본 연구는 성염색체이상증후군의 빈도, 진단시 연령, 그리고 임상적 특징을 조사하여 그 의의를 알아보고자 한다. 방 법 : 1981년 2월부터 2001년 8월까지 20년 동안 경북대학교병원 소아과 염색체검사실에 의뢰된 염색체검사 중 성염색체 이상증후군으로 진단된 115례 환자의 임상적 특징, 진단시 연령 그리고 핵형 분석을 후향적인 방법으로 조사하였다. 결 과 : 성염색체이상증후군의 종류와 빈도는 Klinefelter 증후군은 52%, Turner 증후군은 42%, XXX 증후군은 3%, 혼합 성선이형성은 3%였다. Klinefelter 증후군은 47,XXY가 97%, mosaicism이 3%였고, Turner 증후군은 45,X가 67%, mosaicism이 23%, X 염색체의 구조적 이상은 10%였다. XXX 증후군은 47,XXX가 67%, mosaicism은 33%였고, 혼합 성선이형성은 모두 45,X/46,XY였다. 성염색체이상증후군의 81%가 사춘기 이후에 진단되었다. 신생아기에 Klinefelter 증후군과 Turner 증후군으로 진단받은 경우는 표현형이 정상이거나 경한 선천성기형만을 보였다. Turner 증후군과 Klinefelter 증후군의 mosaicism이나 구조적 이상군에서 전형적인 45,X나 47,XXY보다 신체상 증상 발현이 경미할 것으로 생각되었으나 본 연구에서는 통계학적으로 유의한 차이는 보이지 않았다. 결 론 : 성염색체이상증후군은 사춘기 이전에는 그 증상이 뚜렷하지 않으므로 환아에 대한 주의 깊은 관찰과 관심으로 조기에 진단하여 정상적인 정신성적발달과 성장발육 및 성생활을 유지하도록 부모와 환아의 질환에 대한 인지도를 높여야 할 것으로 사료된다. 특히 핵형 분석시 Turner 증후군은 X염색체의 다양한 구조 이상 또는 mosaicism의 빈도가 높기 때문에 핵형 분석시 이를 염두에 두어야 한다.

Chitosan Oligosaccharide Inhibits $^{203}HgCl_2-Induced$ Genotoxicity in Mice: Micronuclei Occurrence and Chromosomal Aberration

  • Yoon Hyun Joong;Park Haeng Soon;Bom Hee-Seung;Roh Young Bok;Kim Jong Se;Kim Young Ho
    • Archives of Pharmacal Research
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    • 제28권9호
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    • pp.1079-1085
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    • 2005
  • The purpose of this study was to investigate the safety of chitosan oligosaccharide and the effects of chitosan oligosaccharide on mercury induced genotoxicity in mice using the micronuclei and chromosome aberration. The micronuclei test was performed by microscopic examination $(\times1,000,\;stained\;using\;a\;May-Grunwald\;solution)$ after administering 0.01, 0.1, and $1\%(10\;mg/mL)$ chitosan oligosaccharide for 7, 60, and 180 days ad libitum in mice. Total micronuclei of 1,000 polychromatic erythrocytes were recorded for each group. There was no difference between the untreated and experimental groups. The intake periods and concentrations of chitosan oligosaccharide did not affect the occurrence of micronuclei in bone marrow cells (P>0.05). The chromosomal aberration test was performed by microscopic examination $({\times}1,000,\;stained\;using\;a\;4\%\;Giemsa\;solution)$ after administering the same concentration of chitosan oligosaccharide to mice, in $F_1,\;F_2,\;F_3$ generations and parents. The frequency of chromosomal aberrations was defined as [Ydr=(D+R)/total number of counted lymphocytes]. Similar to the micronuclei test, there was no difference between the untreated and treated groups. These results showed that the intake periods and concentrations of chitosan oligosaccharide did not affect chromosomal aberrations in bone marrow cells (P>0.05). To investigate the effect of chitosan oligosaccharide on mercury-induced chromosome aberration, mice in each condition were supplied with $^{203}HgCl_2$ and chitosan oligosaccharide ad libitum. Chitosan oligosaccharide significantly inhibited $^{203}HgCl_2-induced$ chromosome aberration in mice. Based on the results of this study, it may be concluded that the chitosan oligosaccharide is a nontoxic material that could be used as a suppressor of heavy metal-induced genotoxicity.

방사선의 반복조사가 랫드 림프구의 염색체이상과 자매염색분체교환에 미치는 영향 (The Effects of Fractionated Radiation on Chromosome Aberrations and Sister Chromatid Exchanges in Rat Lymphocyte Culture)

  • 이명구;이광성;조영채
    • 한국환경보건학회지
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    • 제24권2호
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    • pp.88-99
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    • 1998
  • This study was undertaken to find out the bio-effects due to be a radiation fractionated exposure. The experimental animals were divided into the control group and the radiation exposure groups of 20cGy, 40cGy and 80cGy with 220 male Sprague-Dawley rats at 6 weeks old. The radiation exposure groups were fractionated exposed from each 20cGy, 40cGy and 80cGy for every 5 days. The chromosome aberrations, the frequency of SCE, the changes of body weight, hematological values and enzyme activities were investigated for the fractionating exposure times and the time after fractionated exposure. The results were summarized as follows 1. The body weight of the radiation exposure groups were significantly decreased compared with control group according to the increasing fractionated exposure times, and it was the lowest values at the immediately after the end of the fractionating exposed, but it was recovered with the level of control group at 3rd weeks gradually increased 1st week after fractionated exposure. 2. The values of WBC, RBC, Hb and Hct in the radiation exposure groups were significantly decreased than those the control group, but the values of GOT, GPT, ALP, and LDH in the radiation exposure groups were significantly increased than those of the control group. 3. The frequency of chromosomal aberration were increased according to the increasing fractionated exposure dose, and it showed the highest at 5th days after fractionated exposed. The types of chromosomal aberration were occurred such as a numerical abnormality, deletion, break and duplication, it was not recovered immediately and maintained high frequency than the control group. 4. The frequency of SCE were significantly increased according to the increasing fractionated exposure dose in 20cGy, 40cGy and 80cGy groups. But it was recovered the level of control group at 7th days after fractionated exposure. According to the above results, this study could confirm that the frequency of chromosomal aberration and SCE were increased with fractionated exposure dose, the other hand, the changes of body weight, hematological values and enzyme activity values were significantly affected according to the increasing fractionated exposure dose.

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Evaluation of the Genetic Toxicity of Synthetic Chemicals (XIII) - Single Cell Gel Electrophoresis of Benzoyl Chloride, 2-Propyn-1-ol, and 2-Phenoxyethanol in Chinese Hamster lung Fibroblast -

  • Ryu, Jae-Chun;Kim, Youn-Jung
    • 한국환경성돌연변이발암원학회지
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    • 제24권2호
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    • pp.79-84
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    • 2004
  • Three synthetic chemicals, benzoyl chloride, 2-propyn-l-ol, and 2-phenoxy ethanol were selected for genotoxicity testing, based on production quantity and available genotoxic data. In our previous report, benzoyl chloride induced chromosomal aberrations in Chinese hamster lung (CHL) fibroblast in vitro with and without metabolic activation, while 2-propyn-l-ol and 2-phenoxy ethanol induced only with metabolic activation. To compare the genotoxicity of chromosome aberration assay, the single cell gel electrophoresis (comet) assay subjected using CHL cells. As a result, statistically significant differences of tail moment values of benzoyl chloride, 2-propyn-1-ol, and 2-phenoxy ethanol were observed compared with control values on almost all concentrations with S9 or without S9 metabolic activation system. This results suggest that genotoxic results of the comet assay and the chromosome aberration assay show correlationship of genotoxicity in the CHL fibroblast. In summary, the positive result of chromosome aberration of benzoyl chloride, 2-propyn-l-ol, and 2-phenoxy ethanol was also induced DNA damages in comet assay with same cell line. Consequently, comet assay will be useful and more accurate tool to detect and to confirm the genotoxicity especially DNA damages in CHL fibroblast.

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산삼배양추출물의 배양 Chinese Hamster Lung 세포를 이용한 염색체이상시험 (The Chromosomal Aberration Test of Wild Ginseng Culture Extract in Chinese Hamster Lung Cell)

  • 송시환;양덕춘;정세영
    • Toxicological Research
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    • 제21권1호
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    • pp.57-62
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    • 2005
  • To investigate the mutant induction of wild ginseng culture extract, we performed chromosomal aberration assay with chinese hamster lung cell in vitro. The test concentration of the extract was decided for the standard with the 50% suppression of cell propagation in the cell. The concentrations for the chromosome test were 1,250, 2,500 and 5,000 ㎍/ml with metabolic activation (+S, 6 hours treatment), 1,100, 2,200 and 4,400 ㎍/ml without metabolic activation (-S, 6 hours treatment) 800, 1,600 and 3,200 ㎍/ml without metabolic activation (-S, 24 hours treatment). No significant increase in chromosome aberrations was observed at any of these concentrations both in the absence and presence of metabolic activation system. Cyclophosphamide monohydrate (CPA) and ethylmethanesulfonate (EMS) caused a significant increase in chromosome aberration. These results may be concluded that wild ginseng culture extract is not capable of inducing chromosome aberration in cultured chinese hamster lung cell regardless of metabolic activation and genotoxicity of that is negative under the present experimental condition.

보중익기합대칠기탕(補中益氣合大七氣湯) 추출물의 유전독성 평가 (Genotoxicity Test of Bojungikkeehapdaechilki-tang water extract)

  • 황희정;변준석;허진일
    • 대한한의학방제학회지
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    • 제14권1호
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    • pp.141-167
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    • 2006
  • The genotoxicity of water extract of Bojungikkeehapdaechilki-tang was tested by In Vitro Chromosome Aberration Test. Bacterial Reverse Mutation Assay and Micronucleus test according to OECD Guidelines and KFDA Guidelines. The obtained results were as follows : 1. Chromosome Aberration Test: In Vitro Chromosome Aberration Test of Bojungikkeehapdaechilki-tang extracts was carried out using cultured Chinese hamster lung cells in the presence and absence of metabolic activation system(S-9 mix). No significant changes in the number of aberrant metaphases having structural and number of aberrations were detected in Bojungikkeehapdaechilki-tang extracts treated groups. 2. Bacterial Reveres Mutation Assay: Bojungikkeehapdaechilki-tang extracts was evaluated for its potential to induce reverse mutation in the histidine auxotroph strains of Salmonella typhimurium such as TA100, TA1535, TA98 and TAl537 and the tryptophan auxotroph strain of Escherichia coli WP2 uvrA. No significant changes in the number of revertant colonies compared to its negative control were detected in Bojungikkeehapdaechilki-tang extracts treated groups against all 5 strains. 3. Micronucleus test: Micronucleus test of Bojungikkeehapdaechilki-tang extracts were performed using specific pathogen free 7-week old male ICR mouse. No significant changes in the number of micronucleated polychromatic erythrocytes among 2000 polychromatic erythrocytes compared to negative control were detected in all Bojungikkeehapdaechilki-tang extracts treated groups. In summarized above-mentioned results, it is concluded that Bojungikkeehapdaechilki-tang extracts have not genotoxicity against In Vitro Chromosome Aberration Test, Bacterial Reverse Mutation Assay and Micronucleus test.

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