• 제목/요약/키워드: chromosome aberrations

검색결과 127건 처리시간 0.025초

병원 근무 간호사들의 염색체 이상 및 소핵 빈도에 미치는 위험요인 (Analysis of Chromosome Aberrations and Micronuclei in Peripheral Lymphocytes of Nurses in a Hospital)

  • 전혜정;김태환;최수용;정해원
    • 한국환경성돌연변이발암원학회지
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    • 제25권4호
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    • pp.150-156
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    • 2005
  • Analysis of chromosome aberration (CA) and cytokinesis-block micronucleus (CBMN) assay in peripheral lymphocytes of nurses exposed to low levels of anticancer drug and Ethylene Oxide(EO) gas in a hospital were performed. The frequency of CA was increased in the exposed compared to the controls whereas no increase of the frequency of MN was found. The frequencies of chromatid type CA were 1.2, 3.91 and 9.67 per 500 cells in the controls, workers exposed to anticancer drug and workers exposed to EO, respectively. Lower frequency of CA in nurses handling anticancer drugs with safety covers compared to those without safety covers was observed, but it was not statistically significant. The frequency of CA in nurses handling anticancer drugs increased by the frequency of mixing anticancer drugs. Poisson regression analysis showed a significant association of the frequency of chromatid type CA with age, duration of wort exposure to anticancer drug and EO gas exposure, but no association of the frequency of chromosome type CA with any variables. The results suggested that there were associations between CA and the occupational exposure to low levels of anticancer drug and EO gas.

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A case of isodicentric chromosome 15 presented with epilepsy and developmental delay

  • Kim, Jon Soo;Park, Jinyu;Min, Byung-Joo;Oh, Sun Kyung;Choi, Jin Sun;Woo, Mi Jung;Chae, Jong-Hee;Kim, Ki Joong;Hwang, Yong Seung;Lim, Byung Chan
    • Clinical and Experimental Pediatrics
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    • 제55권12호
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    • pp.487-490
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    • 2012
  • We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could not control her head and presented with generalized hypotonia. Her brain magnetic resonance imaging scans and metabolic evaluation results were normal. Routine karyotyping indicated the presence of a supernumerary marker chromosome of unknown origin (47, XX +mar). An array-comparative genomic hybridization (CGH) analysis revealed amplification from 15q11.1 to 15q13.1. Subsequent fluorescence in situ hybridization analysis confirmed a idic(15) chromosome. Array-CGH analysis has the advantage in determining the unknown origin of a supernumerary marker chromosome, and could be a useful method for the genetic diagnosis of epilepsy syndromes associated with various chromosomal aberrations.

방사선취급 병원근무자들의 염색체이상 및 자매염색분체교환 빈도 (Chromosome Aberrations and Sister Chromatid Exchanges of Hospital Workers Exposed to Radiation)

  • 차애리;김미선;황인경;이수일;조병만;김돈균
    • Journal of Preventive Medicine and Public Health
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    • 제31권4호
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    • pp.616-627
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    • 1998
  • In order to evaluate the cytogenetic hazard among hospital workers potentially exposed to low dose of radiation, the analysis of chromosome aberrations(CA) and sister chromatid exchanges(SCE) in lymphocytes were performed in 79 hospital workers and 79 non-exposed workers. The mean frequency of chromosomal exchange and deletion(respectively, $0.20\times10^{-2}/cell\;and\;0.39\times10^{-2}/cell$) in the exposed group were significantly higher than those$(0.07\times10^{-2}/cell\;and\;0.23\times10^{-2}/cell)$ in control group. The frequency of sister chromatid exchanges was 5.04/cell in the control vs. 6.57/cell in the exposed group. There were also significant differences in the mean frequencies of CA and SCE adjusted for age, sex, smoking, drinking between two groups. There were no evidence of significant increase of CA and SCE according to the department or duration of employment. But the frequency of cells having chromosome aberration was significantly higher in the exposed group than in the control group related to duration of employment. There was no dose-effect relationship between the cumulative doses and the frequency of CA and SCE. But in the case of last 1 yr cumulative dose, there were evidence of significant dose-dependant increase of chromosome type CA and percentage of cells with aberration. The result suggest that there is cytogenetic hazard in risk group like hospital workers handling low dose radiation. And the analysis CA and SCE are useful biological indicators for the exposure of low dose level of radiation.

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국산 Fluorescence in Situ Hybridization 시스템을 이용한 다양한 검체에서의 염색체 분석 (Chromosome Analysis in Clinical Samples by Chromosome Diagnostic System Using Fluorescence in Situ Hybridization)

  • 문신용;방명걸;오선경;류범용;황도영;정병준;최진;손철;장준근;김종원;김석현;최영민
    • Clinical and Experimental Reproductive Medicine
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    • 제24권3호
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    • pp.335-340
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    • 1997
  • Fluorescence in situ hybridization (FISH) techniques allow the enumeration of chromosome abnormalities and from a great potential for many clinical applications. In order to produce quantitative and reproducible results, expensive tools such as a cooled CCD camera and a computer software are required. We have developed a Chromosome Image Processing System (Chips) using FISH that allows the detection and mapping of the genetic aberrations. The aim of our study, therefore, is to evaluate the capabilities of our original system using a black-and-white video camera. As a model system, three repetitive DNA probes (D18Z1, DXZ1, and DYZ3) were hybridized to variety different clinical samples such as human metaphase spreads and interphase nuclei obtained from uncultured peripheral blood lymphocytes, uncultured amniocytes, and germ cells. The visualization of the FISH signals was performed using our system for image acquisition and pseudocoloring. FISH images were obtained by combining images from each of probes and DAPI counterstain captured separately. Using our original system, the aberrations of single or multiple chromosomes in a single hybridization experiment using chromosomes and interphase nuclei from a variety of cell types, including lymphocytes, amniocytes, sperm, and biopsied blastomeres, were enabled to evaluate. There were no differences in the image quality in accordance with FISH method, fluorochrome types, or different clinical samples. Always bright signals were detected using our system. Our system also yielded constant results. Our Chips would permit a level of performance of FISH analysis on metaphase chromosomes and interphase nuclei with unparalleled capabilities. Thus, it would be useful for clinical purposes.

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同時分裂促進된 사람의 培養細胞에 있어서 染色體의 DNA 合成에 미치는 Steroids의 영향 (Studies on the Effects of Steroids on DNA Synthesis of Chromosmoes in Synchronized Human Cells)

  • 강영선;박상대;류정희
    • 한국동물학회지
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    • 제12권3호
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    • pp.85-93
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    • 1969
  • 5-AU에 의해 同時分裂促進된 사람의 胎兒 賢臟細胞를 材料로 steroid 에 의한 染色體 異常率 時間經過에 따른 染色體異常率, DNA 合成樣相을 調査한 結果는 다음과 같다. 1. 5-AU 處理區에서 細胞當 染色體 異常率은 0.131로 對照區에 比해 3倍 이상이나 된다. 또한 5-AU + progesterone 과 5-AU + testosterone 處理區에서는 細胞當 染色體異常率이 각각 0.340과 0.452이다. 2. 5-AU 處理區에서 異常染色體를 지니는 細胞는 0.8%로 時間變化에 무관하게 전체 其間에 걸쳐 존재한다. 5-AU + progesterone과 5-AU + testosterone 處理區에서는 2.2%, 4.3%의 異常染色體數가 觀察되고, 時間이 지남에 따라 增加한다. 또한 染色體 異常率은 5-AU + progesterone 處理區에서는 12時間과 18時間에 가장 높았고, 5-AU + testosterone 處理區에서는 時間變化에 따라 감소하고 5-AU 處理區에서는 유의한 차이가 없다. 3. 5-AU 는 標識分裂像의 出現頻度와 標識强度를 增加시키는데, 이는 5-AU에 의해 S-stage의 細胞가 축적되는 결과로 생각된다. 그러나 steroid는 標識分裂像의 出現頻度를 감소시키고 DNA 合成時期를 지연시키고 있다. 또한 性染色體의 DNA 合成樣相이 細胞週期의 각 段階에 따라 다르며, 이는 5-AU와 steroid의 二重處理로 DNA 合成時期를 不規則하게 만든 때문이다.

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Genotoxicity of Capsaicin in Cultured Human Lymphocytes

  • Lee, Sang-Sup;Park, Young-Ho;Sohn, Yeowon;Ryu, Soo-Jung;Surh, Young-Joon
    • 한국환경성돌연변이발암원학회지
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    • 제15권2호
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    • pp.81-87
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    • 1995
  • The clastogenic activity of capsaicin, a major pungent and irritating constituent of hot chili pepper, was evaluated in cultured human lymphocytes. Capsaicin (125, 250, and 500 $\mu$M) caused cytogenetic damage as determined by increased frequency of chromosome/chromatid aberrations compared to the solvent control. The mitotic indices were also decreased in a concentration-related manner in capsaicin-treated cells. Moreover, capsaicin suppressed [$^3$]thymidine incorporation into lymphocytes. The clastogenicity and cytotoxicity of capsaicin towards human lymphocytes were evident without an external metabolic activation system. Taken together, these findings suggest that capsaicin is a genotoxic agent and may thus represent a potential health hazard in humans.

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Tumour Suppressor Mechanisms in the Control of Chromosome Stability: Insights from BRCA2

  • Venkitaraman, Ashok R.
    • Molecules and Cells
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    • 제37권2호
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    • pp.95-99
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    • 2014
  • Cancer is unique amongst human diseases in that its cellular manifestations arise and evolve through the acquisition of somatic alterations in the genome. In particular, instability in the number and structure of chromosomes is a near-universal feature of the genomic alterations associated with epithelial cancers, and is triggered by the inactivation of tumour suppressor mechanisms that preserve chromosome integrity in normal cells. The nature of these mechanisms, and how their inactivation promotes carcinogenesis, remains enigmatic. I will review recent work from our laboratory on the tumour suppressor BRCA2 that addresses these issues, focusing on new insights into cancer pathogenesis and therapy that are emerging from improved understanding of the molecular basis of chromosomal instability in BRCA2-deficient cancer cells.

Unusual chromosomal features in a child with gradual disappearance of right ulna (mono ostolic osteolysis)

  • Goswami, Hit K.;Shrivastava, Nirhhay;Gopal, Shiv Kumar;Sharna, Sanjay;Chandorkar, Manoj;Lee, In-Hwan;Chang, Sung-Ik
    • Journal of Genetic Medicine
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    • 제1권1호
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    • pp.11-16
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    • 1997
  • A nine month old male child presenting degenerating right ulna (massive osteolysis) has been followed up for two years. The bone completely disappeared due to abscesses on the right forearm and without orthopedic or haematological complications. Repeated lymphocyte cultures showed somatic pairing (mostly chromosome pair 5), end to end association involving chromosome 14, 21, 21 and 16, and satellite enlargement in a high proportion of cells with an otherwise normal 46,XY karyotype. These observations are compared with 13 other types of orthopaedic patients, and we opine that cumulative picture of chromosomal aberrations appears to correspond with the present rare anomaly "Mono Ostolic Osteolysis" involving right ulna. None of the controls or any other orthopaedic anomaly studied hereunder exhibits this chromosomal picture.

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산마늘의 캘러스세포에서 체세포군 변이의 핵학적 분석 (Karyological Analysis of Somaclonal Variation in Callus Cells of Allium victorialis var. platyphyllum)

  • Seo, Bong-Bo
    • Journal of Plant Biology
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    • 제38권4호
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    • pp.321-328
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    • 1995
  • Calli obtained from basal disc explants of Allium victorialis var.platyphyllum wre grown in three kinds of nutrient media (MS, BDS, and B5), and the frequencies of mitotic index and the chromosomal aberrations were analysed. The mitotic index varied from 0.55% to 1.01% with respect to culture media and ages. The mitotic irregularities like micro-, bi- and multi-nuclei, chromosome bridge and laggards were noted in each types of calli. The chromosome number variations observed in metaphase stage were identified aneuploid and tetraploid. Structural variations such as dicentric chromosomes, centromere breakage and small chromosomes were observed. Relationship between basal medium and chromosomal variability was not observed in this study. But, in BDS medium, NAA and BA had a more effect on number variation than kinetin.

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한국인 두경부암 환자에서 제3번 염색체 단완의 결손 (Chromosome 3p Deletions in Korean Head and Neck Carcinomas)

  • 손미나;유영아;조증근;최건;최종욱;김열홍;김준석
    • 대한두경부종양학회지
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    • 제14권1호
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    • pp.20-26
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    • 1998
  • Objectives: Deletion in the short arm of chromosome 3 is common in many human cancers, including sporadic and hereditary renal carcinomas, small cell lung carcinomas, non-small cell lung carcinomas, and carcinomas of the ovary, breast, and cervix. A high frequency of chromosomal aberrations in head and neck cancers involving chromosome 3p has also been reported. These findings suggest that multiple tumor suppressor genes may be present on the short arm of chromosome 3. Materials and Methods: To investigate the possibility of chromosome 3p deletions in the Korean head and neck cancer patients, we applied a polymerase chain reaction(PCR)-based Restriction Fragment Length Polymorphism analysis to the DNA samples of matched normal mucosa and head and neck squamous cell carcinomas from 19 patients. Results: In the 19 normal samples heterozygosity at the polymorphic loci varied: 6 at the D3F15S2 locus(on telomeric 3p21), 2 at the D3S32 locus(on centromeric 3p21), and 4 at the THRB locus(on centromeric 3p24). In 12 matched carcinoma specimens, LOH(loss of heterozygosity) was observed at D3F15S2 in 1 of 6(17%), D3S32 in 1 of 2(50%), and at THRB in 2 of 4 cases(50%). Conclusion: The frequency of chromosome 3p deletion in the Korean head and neck carcinomas appear as other country did.

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