• 제목/요약/키워드: aberrations

검색결과 383건 처리시간 0.022초

Multi-Parameter Approach for Evaluation of Genomic Instability in the Polycystic Ovary Syndrome

  • Sekar, Nishu;Nair, Manju;Francis, Glory;Kongath, Parvathy Raj;Babu, Sandhya;Raja, Sudhakaran;Gopalakrishnan, Abilash Valsala
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권16호
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    • pp.7129-7138
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    • 2015
  • Background: The polycystic ovary syndrome (PCOS), characterized by hyperandrogenism and chronic anovulation, is a common endocrine disorder in women. PCOS, which is associated with polycystic ovaries, hirsutism, obesity and insulin resistance, is a leading cause of female infertility. In this condition there is an imbalance in female sex hormones. All the sequelae symptoms of PCOS gradually lead to cancer in the course of time. It is heterogeneous disorder of unknown etiology so it is essential to find the exact cause. Materials and Methods: In this study both invasive and non-invasive techniques were employed to establish the etiology. Diagnosis was based on Rotterdam criteria (hyperandrogenism, ovulatory dysfunction, PCOM) and multiparameters using buccal samples and dermatoglypic analysis and cytogenetic study for 10 cases and four age and sex matched controls. Results: In clinical analysis we have observed the mean value of total testosterone level was 23.6nmol/L, total hirsutism score was from 12-24, facial acne was found in in 70% patients with 7-12 subcapsular follicular cysts, each measuring 2-8 mm in diameter. In dermatoglypic analysis we observed increases in mean value ($45.9^{\circ}$) of ATD angle when compared with control group and also found increased frequency (38%) of Ulnar loops on both fingers (UU), (18%) whorls on the right finger and Ulnar loop on left finger (WU) and (16%) arches on right and left fingers (AA) were observed in PCOS patients when compared with control subjects. Features which could be applied as markers for PCOS patients are the presence of Ulnar loops in middle and little fingers of right and left hand. The buccal micronucleus cytome assay in exfoliated buccal cells, we found decrease in frequency of micronuclei and significant increases in frequency of karyolysed nuclei in polycystic ovarian syndrome patients. Chromosome aberration analysis revealed a significant increase in frequency of chromosome aberrations (CAs) in PCOS patients when compared with controls. Conclusions: From this present work it can be concluded that non-invasive technique like dermatoglypics analysis and buccal micronucleus cytome assays with exfoliated buccal cell can also be effective biomarkers for PCOS, along with increased CAs in lymphocytes as a sign of genetic instability. There is a hypothesis that micronuclei and chromosomal aberrations could have a predictive value for cancer. From this present work it can be concluded to some extent that non-invasive technique like dermatoglypics and buccal cell analysis can also be effective for diagnosis.

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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광시야 망원경 3호기 (NEOPAT-3)의 광학계 특성 및 조정 (OPTICAL PROPERTY AND ALIGNMENT OF KAO WIDE FIELD TELESCOPE (NEOPAT-3))

  • 육인수;경재만;윤요나;윤재혁;임홍서;문홍규;한원용;변용익;강용우;유성렬
    • Journal of Astronomy and Space Sciences
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    • 제21권4호
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    • pp.417-428
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    • 2004
  • 광시야 망원경 3호기의 광학계 특성을 조사하고 이를 바탕으로 광학계를 조정하였다. 보정렌즈를 쓰기 때문에 필터는 V, R, I로 제한된다. 광시야 망원경 3호기는 초점비가 작기 때문에 광학계의 정렬 상태에 매우 민감하다. 2도${\times}2$도의 시야각 내에서 성상의 RMS 반경을 $8{\mu}m$ 이내로 맞추려면 다음의 조건을 만족해야 한다: 1) 관측기기는 초점면에 대하여 0.05도 이상 기울어지면 안된다. 2) 주경과 보정렌즈의 축간 거리(decenter)를 1mm 이내로 맞추어야 한다. 3) 주경과 보정렌즈 사이를 최적 거리에서 2.3mm 이내로 맞추어야 한다. 광시야 망원경 3호기는 곡률감지법을 이용한 수차 측정법으로 광학계를 조정하고 있으며 마무리 단계에 있다. 현재 대덕전파천문대 옥상에 임시로 설치되어 시스템 정상화와 인공위성 관측을 수행하고 있다.

간호교육에서의 유전학 교육과정 현황과 요구 (The Current Status and Educational Requirements for Genetics Curriculum at Nursing Institutions)

  • 홍해숙;변영순;나연경
    • Journal of Korean Biological Nursing Science
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    • 제5권1호
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    • pp.13-22
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    • 2003
  • The purpose of this study was to investigate and analyze current educational requirements related to genetics curriculum(from June 2002 to September 2002) established at nursing institutions and to provide the basic data for the development of genetics science program at the undergraduate. Subjects of this study were comprised of twenty-three colleges of nursing in 4-year baccalaureate and thirty colleges in 3-year diploma programs. The results of this study were as follows : 1) 32 colleges offer courses related to genetics. 29 among 32 colleges have that integrated. Three schools have established completely independent courses of genetics. 21 colleges do not have any courses dealing with genetics. 2) The contents of courses related to genetics include: Congenital abnormalities, chromosomal aberrations, congenital metabolic disease, prenatal diagnosis and genetic counseling, genes and chromosomes, immune genetics, blood type and genetics, rule of genetics, variation in gene expression, the map of the human gene, gene linkage genetics, interaction of genes, single inheritance in order and genetic biochemistry. 3) For course credit, 14colleges(48.3%) offered at most 1 credit per course. The grade of student who can take the course, 51.7% were in their second year while 37.9% were in their third year. The majors of nursing faculty who taught the course were nursing(51.7%) and basic nursing science(17.2%). 4) As far as the need of opening the courses related to genetics, 36 colleges(67.0%) have made a 'need', 12 schools(22.6%) state 'dose not need'. 711e reason for need were the following development of bio engineering, increase number of patients who are related to genetics, recognition of the need in clinical nursing. 7 schools(13.2%) agreed to offer independent course in genetics but 39 schools(73.6%) are in disagreement with that. When the school offers the course with other courses, 27 schools(50.0%) are opening basic nursing science and 14 schools(26.4%) are opening nursing as an integrated courses. If the name of course was either genetic nursing(34.0%) or genetics(28.3%), the credits for the course was one or 2 credits. 33 schools(62.3%) students were in the first or second years. 41 schools(84.9%), the majors of the faculty who had taught the course were either basic nursing science(35.8%), nursing(28.3%) or basic medicine(24.5%). The contents of the course should include in that order: Chromosome aberrations, prenatal diagnosis and genetic counseling, congenital metabolic disease, congenital abnormalities, genes and chromosomes, the rules of genetics, immune genetics, interaction of genes, variation in gene expression, etc. The results and discussions of the study indicate that the entire curriculums need to be investigated with respect to contents of education, nursing curriculums and name of courses because of the increasing need of knowledge related to genetics in the clinical practice.

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Peripheral Blood Lymphocytes as In Vitro Model to Evaluate Genomic Instability Caused by Low Dose Radiation

  • Tewari, Shikha;Khan, Kainat;Husain, Nuzhat;Rastogi, Madhup;Mishra, Surendra P;Srivastav, Anoop K
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권4호
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    • pp.1773-1777
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    • 2016
  • Diagnostic and therapeutic radiation fields are planned so as to reduce side-effects while maximising the dose to site but effects on healthy tissues are inevitable. Radiation causes strand breaks in DNA of exposed cells which can lead to chromosomal aberrations and cause malfunction and cell death. Several researchers have highlighted the damaging effects of high dose radiation but still there is a lacuna in identifying damage due to low dose radiation used for diagnostic purposes. Blood is an easy resource to study genotoxicity and to estimate the effects of radiation. The micronucleus assay and chromosomal aberration can indicate genetic damage and our present aim was to establish these with lymphocytes in an in vitro model to predict the immediate effects low dose radiation. Blood was collected from healthy individuals and divided into 6 groups with increasing radiation dose i.e., 0Gy, 0.10Gy, 0.25Gy, 0.50Gy, 1Gy and 2Gy. The samples were irradiated in duplicates using a LINAC in the radiation oncology department. Standard protocols were applied for chromosomal aberration and micronucleus assays. Metaphases were stained in Giemsa and 200 were scored per sample for the detection of dicentric or acentric forms. For micronuclei detection, 200 metaphases. Giemsa stained binucleate cells per sample were analysed for any abnormality. The micronuclei (MN) frequency was increased in cells exposed to the entire range of doses (0.1-2Gy) delivered. Controls showed minimal MN formation ($2.0%{\pm}0.05$) with triple MN ($5.6%{\pm}2.0$) frequency at the lowest dose. MN formation increased exponentially with the radiation dose thereafter with a maximum at 2Gy. Significantly elevated numbers of dicentric chromosomes were also observed, even at doses of 0.1-0.5Gy, compared to controls, and acentric chromosomes were apparent at 2Gy. In conclusion we can state that lymphocytes can be effectively used to study direct effect of low dose radiation.

전혈, 림프구와 백혈구 연층 각각의 방사성 동위원소 체외 조사 후 배양을 이용한 생물학적 선량측정 (Biological Dosimetry of In Vitro Irradiation with Radionuclides : Comparison of Whole Blood, Lymphocyte and Buffy Coat Culture)

  • 김종호;이동수;최창운;정준기;이명철;고창순;김종순;김희근;강덕원;송명재
    • 대한핵의학회지
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    • 제29권1호
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    • pp.125-132
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    • 1995
  • The purpose of this study was to establish mononuclear cell cultures such as lymphocytes or buffy coat for the biological dosimetry of in vitro Irradiation of the radionuclide Tc-99m in order to exclude the effect of residual doses seen in the cultures of whole blood. Biological do simetry of Tc-99m on cultured mononuclear cells at doses ranging from 0.05 to 6.00 Gy, by scoring unstable chromosomal aberrations(Ydr) observed in cultured lymphocytes, were performed using peripheral venous blood of healthy normal person. The results showed that; (1) In vitro irradiation of radioisotope in separated lymphocyte or buffy coat showed trace amount of residual doses of isotope after washing. Residual doses of isotopes are increased in proportion to exposed time and irradiated dose without difference between I-131 and Tc-99m. (2) We obtained these linear-quadratic dose response equations in lymphocyte and buffy coat culture after in vitro irradiation of Tc-99m, respectively (Ydr = 0.001949 $D^2$ +0.006279D + 0.000185; Ydr= 0.002531 $D^2$-0.003274 D+0.003488). In conclusion, the linear quadratic dose-response equation from in vitro irradiation of Tc-99m with lymphocyte and buffy coat culture was thought to be useful for assessing Tc-99m induced biological effects. And mono-nuclear cell cultures seem to be the most appropriate experimental model for the assessment of biological dosimetry of internal irradiation of radionuclides.

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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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비정상 산과력을 가진 부부에서의 균형전좌형 염색체 보인자의 빈도 및 그 보인자들에서의 산전 세포유전학적 진단 (Prevalence of Balanced Chromosomal Translocations in Couples with Abnormal Reproductive Outcomes and Prenatal Cytogenetic Diagnosis in the Carriers)

  • 박소연;강인수;류현미;전종영;이문희;김진미;최수경
    • Clinical and Experimental Reproductive Medicine
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    • 제24권3호
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    • pp.393-398
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    • 1997
  • Cytogenetic analysis was performed in 1321 couples and 141 women with history of abnormal reproductive outcome during 1988-1996. The use of high resolution banding technique and fluorescence in situ hybridization (FISH) in the chromosome analysis has made the precise evaluation of chromosome aberrations. The prevalence of balanced chromosomal translocation carriers were 3.74% (104/2783 patients). 70 cases (2.52%) were reciprocal translocation carriers and 34 (1.22%) had Robertsonian translocations. Chromosome aberrations were more frequent in women (73 cases) than in men (31 cases). No phenotypical abnormalities were found in all carriers, but they experienced abnormal reproductive outcomes such as recurrent spontaneous abortions, anomalous offsprings or infertility problem. Prenatal diagnosis was carried out on 36 subsequent pregnancies in balanced translocation carriers. The fetal karyotypes showed that 12 cases (33%) were normal, 22 (61%) were balanced translocations, and two (6%) were unbalanced translocations. It is concluded that the prevalence of balanced chromosomal translocations in patients with abnormal reproductive outcome is higher than that of the normal population. Most of the fetal samples showed normal karyotypes or balanced translocations. Although the incidence of chromosomal imbalance in the fetuses was relatively low in prenatal diagnosis, individuals with balanced translocations are predisposed to abnormal offspring with partial trisomy or monosomy. Therefore we recommend that genetic counselling and cytogenetic prenatal diagnosis for translocation carriers have to be offered to prevent recurrent chromosomal abnormal babies.

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동화시킨 사람의 신장세포에 있어서의 DNA 합성과 방사선감수성 (DNA Synthesis and Radiosensitivity in Synchronized Human Kidney Cells in Vitro)

  • Kang, Yung-Sun;Park, Sang-Dai;Lee, Chung-Keel
    • 한국동물학회지
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    • 제14권4호
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    • pp.175-180
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    • 1971
  • 5-AU (5-aminouracil)를 처리하므로써 세포분열의 동시화를 촉진시킨 사람의 신장세포의 분열활동, 염색체 이상 및 DNA복제 양상에 미치는 X-선의 영향을 조직배양 및 자기방사법(autoradiography)을 통하여 추구하였다. 5-AU처리구에서 분열활동의 최고점은 5-AU를 처리한 뒤 10시간에서 나타나며, 대조구에 비해서 6배나 높음을 보여준다. 5-AU 처리후 100R의 X-선을 조사한 실험구에서는 X-선의 영향은 주로 세포분열을 지연시키고 분열활동을 저해시킬 뿐 아니라 분열활동의 최고점을 보여주는 시간을 불규칙하게 한다. 대조구에서 세포당 염색체이상율은 0.030에 불과하나 5-AU를 처리할 경우는 0.147로 높아진다. 한편 5-AU+100R 및 5-AU+200R의 X-선 처리구에서 세포당 염색체 이상율은 각각 0.583 및 0.669로 보다 높아짐을 보겠다. 한편 세포당 1R당 평균 염색체 이상율은 0.0035가 된다. 본 실험결과를 통해 보면 5-AU가 표지된 분열상의 출\ulcorner빈도 및 표지강도를 높이고 있음을 알겠는데, 그것은 5-AU가 세포주기중 S기에 놓인 세포를 축적시키는 힘이 있기때문이라고 보겠다. 이와는 반대로 X-선은 세포의 표지강도와 표지된 분열상의 출현빈도를 저하시킨다.

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극자외선 영역에서 곡면 DOEs에 관한 연구 (Studies on Curved Diffractive Optical Elements in EUV)

  • 최성을;이용우;권명희;김용후
    • 한국광학회지
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    • 제16권4호
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    • pp.304-312
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    • 2005
  • 본 연구에서는 여러 형태의 회절광학요소의 field performance를 조사하였다. Zemax 프로그램을 이용하여 다섯 개의 회절광학요소, 즉 투과형 평면 DOE, 투과형 곡면 DOE, 반사형 포물면 DOE, 반사형 평면 DOE, 그리고 반사형 곡면 DOE를 설계하였다. 그리고 이들 회절광학요소에 극자외선 파장인 13 nm와 가시광선 파장인 632.8 nm를 적용시켰다. 이들 DOEs에 사입사 조명시의 회절 한계 하에서의 시야각의 크기 및 파장에 따른 특성, 그리고 주된 수차의 형태를 상호분석 비교하였다. 회절한계 하에서 투과 및 반사 형태 모두에서 곡면 DOEs의 시야각이 평면 DOEs의 시야각보다 훨씬 크다는 것을 알 수 있었다. 또한 사입사 경우에 평면 DOEs와 포물면경의 주된 수차는 코마이며, 곡면 DOEs의 주된 수차는 비점수차와 상면만곡의 혼합된 형태로 나타남을 알 수 있었다. 측정을 통하여 얻은 시야각의 크기와 수차의 종류가 이론적인 결과와 잘 일치함을 알 수 있었다. 또한 극자외선영역에서 평면형 DOEs에 비해 곡면형 DOEs의 field angle의 증가율이 가시광선에서보다 더 효과적임을 알 수 있었다.