• Title/Summary/Keyword: cytogenetic analysis

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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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    • v.16 no.16
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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.

Improvement of micronucleus assay in the lymphocytes using Argyrophilic nucleolor organizer region(AgNOR) staining (Argyrophilic nucleolar organizer region(AgNOR) 염색을 이용한 림프구의 미세핵분석법의 개선)

  • Kim, Sung-ho;Han, Dong-un;Kang, Mun-il;Lim, Jeong-taek
    • Korean Journal of Veterinary Research
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    • v.36 no.2
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    • pp.277-281
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    • 1996
  • A technique to improve the analysis of micronuclei(MN) in lymphocytes as a cytogenetic indicator is reported. For the purpose of diminishing the variation of the result from individual reader and making it easier to distinguish accurately a cytokinesis blicked(CB) lymphocyte and micronuclei, we tried a modified one-step silver staining technique as a method for detection of the argyrophilic nucleolar organizer region(AgNOR) with or without conventional Giemsa stain in the slide from CB method. Compared with the conventional Giemsa stain, the preparation processed with this method are especially useful for the accurate analysis of MN of cultured lymphocyte with cytochalasin B. This method will be a useful technique for automated calculation of MN.

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Chromosome Aberration and Sister Chromatid Exchange for the Assessment of Cadmium Toxicity (카드뮴독성을 평가하기 위한 방법으로서의 염색체 이상 및 자매염색체 교환)

  • 맹승희;정해원
    • Journal of Environmental Health Sciences
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    • v.17 no.1
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    • pp.110-119
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    • 1991
  • This study was performed to investigate the applicability of 9 chromosome aberration and sister chromatid exchange analysis for the assessment of cytotoxicity and cytogenetic effects of cadmium. Induction of chromosome aberration and sister chromatid exchange in CHO-K1 cells and human peripheral lymphocytes by 2 hour-treatment of CdCl$_{2}$ with various concentrations was observed in relation to their frequencies and types of aberration. The frequency of chromosome aberration in CHO cells treated with CdCl$+{2}$ at G$_{1}$ was increased with dose-dependent manner. When human peripheral lymphocytes were treated with cadmium at G0 and harvested at 72 hours there after, the response was dose-dependent and all the aberrations were also chromatid types. There was no significant increase in frequencies of sister chromatid exchange in both CHO cells and human lymphocytes treated with different concentrations of cadmium. It was suggested that SCE analysis was not a good assessment method for cadmium toxicity.

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Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH

  • Lee, Cha Gon;Yun, Jun-No;Park, Sang-Jin;Sohn, Young Bae
    • Journal of Genetic Medicine
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    • v.10 no.1
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    • pp.52-56
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    • 2013
  • Mosaic trisomy 14 syndrome is a well-known but unusual chromosomal abnormality with a distinct and recognizable phenotype. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method for detecting DNA copy number changes, in place of traditional karyotype analysis. However, the array CGH shows a limitation for detecting the low-level mosaicism. Here, we report the detailed clinical and cytogenetic findings of patient with low-frequency mosaic trisomy 14, initially considered normal based on usual cut-off levels of array CGH, but confirmed by G-banding karyotyping. Our patient had global developmental delay, short stature, congenital heart disease, craniofacial dysmorphic features, and dark skin patches over her whole body. Estimated mosaicism proportion was 23.3% by G-banding karyotyping and 18.0% by array CGH.

Cytogenetic Analysis of All-Female Triploid Olive Flounder Paralichthys olivaceus for Ploidy Verification (전 암컷 3배체 넙치(Paralichthys olivaceus)에 대한 효율적인 세포유전학 분석법)

  • Ko, Min Gyun;Jung, Hyo Sun;Lee, Hyo Bin;Kim, Dong Soo
    • Korean Journal of Fisheries and Aquatic Sciences
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    • v.49 no.5
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    • pp.671-674
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    • 2016
  • We cytogenetically analyzed a triploid King-Nupchi strain of the olive flounder Paralichthys olivaceus to define the simplest, most rapid, and most effective method of ploidy analysis in aquaculture farms. Female triploidy of the flounder King-Nupchi strain was induced by cold shock (3 min post-fertilization at 2-4℃ for 45 min). Triploid induction was confirmed by erythrocyte measurement (nuclear volume, 29.15±2.10 μm3); flow cytometry (2.14±0.03 pg/cell); chromosome count (3N=72); Ag-NOR banding; and silver staining. Silver staining of finned cells obtained using a solid tissue technique was the most effective method of ploidy verification.

Analysis of chromosome aberration, sister chromatid exchange, micronuclei and single cell gel electrophoresis in human lymphocytes exposed in vitro to Bisphenol A and Diethylstilbestrol (비스페놀 A 및 Diethylstilbestrol의 유전독성 평가를 위한 염색체이상, 자매염색분체교환, 소핵형성, 단일세포 겔 전기영동법의 활용)

  • 김병모;정해원
    • Environmental Mutagens and Carcinogens
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    • v.21 no.2
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    • pp.135-141
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    • 2001
  • Endocrine disruptors have been implicated in carcinogenesis in animal studies, but carcinogenetic effects on human remain controversial. In order to examine the genotoxicity of two common endocrine disruptors, Bisphenol A and Diethylstilbestrol, cytogenetic endpoints including chromosome aberration (CA), sister chromatid exchange (SCE), micronuclei (MN) analyses and DNA damage by single cell gel electrophoresis (SCGE) were assessed. The effects of Bisphenol A and Diethylstilbestrol on the frequencies of CA and MN were increased in a dose-dependent manner and that of Bispheol A was more significant by Kendall'$\tau$test. Bisphenol A and Diethylstilbestrol also increased the frequency of SCE. Bisphenol A and Diethylstilbestrol induced DNA damage in a dose-dependent manner and the DNA damage induced by Diethylstilbestrol in human blood lymphocytes was more significant.

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Mutagenicity of 2-[(4- Cyanophenyl)amino] -3-chloro-1, 4- naphthalenedione (NQ-Y15) (2-[(4- Cyanophenyl)amino] -3-chloro-1, 4- naphthalenedione (NQ-Y15)의 돌연 변이원성)

  • 김봉희;정기화;유충규;창동신;이기선;전선덕;소동수;채상호;문창규
    • Environmental Analysis Health and Toxicology
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    • v.15 no.4
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    • pp.157-163
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    • 2000
  • 2- [(4- Cyanophenyl)amino] -3-chloro-1, 4- naphthalenedione (NQ-Y15) was asssayed for its genotoxic potential by using Salmonella typhimurium reversion assay and in vitro chromosome aberration test on Chinese hamster lung cells. In the Ames test, NQ-Y15 induced his + revertants of Salmonella typhimurium TA 98 and TA1537, reaching levels twice the negative control values. But, NQ-Y15 induced only his+ revertants of Salmonella typhimurium TA1537 more than twice the control values under the condition with metabolic activation system. In the cytogenetic test on chinese hamster lung cells. NQ -Y15 showed significant chromosomal aberrations, but the incidence was significantly reduced in the presence of metabolic activation.

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Cytogenetic Studies of Polyploidy Manipulation (배수분조작을 위한 세포유전학적 연구)

  • 손진기
    • Korean Journal of Animal Reproduction
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    • v.13 no.1
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    • pp.49-55
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    • 1989
  • The Results of colchicine and pretreatment time have shown that the cells of Coho Salmon(Oncorhynchus Kisutch) were effectively injected 6 hours prior to the harvest at a final concentration of 10$\mu\textrm{g}$/g body weight. The cell-density from 8,000 cells/㎣ (=8${\times}$106 ml) was found as ideal. The best effect of hypotonic solution in proportion to the cell is 20 : 1 and 50 minutes. The model number of diploid chromosome in this species was 2n=60. The karyotype analysis proved that the diploid complement consisted of 19 pairs of metacentric-, 4 pairs of submetacentric- and 7 paris of acrocentric-chromosomes. The diagrammatic representation proved that the diploid complement consisted of 7 pairs of metacentric-, 2 pairs of submetacentric- and 1 pair of acrocentric-chromosomes.

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Radiobiological Evaluation in Pig Bred in the Vicinity of Yeonggwang Nuclear Power Station Using Micronuclei in Cytokinesis-blocked Lymphocyte (림프구의 미소핵을 지표로 영광 원자력발전소 주변 사육 돼지의 방사선 생물학적 평가)

  • 김세라;강창모;김성호
    • Journal of Veterinary Clinics
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    • v.21 no.3
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    • pp.286-290
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    • 2004
  • Cytogenetic and hematological analysis was performed in peripheral blood of pig in the vicinity of Yeonggwang nuclear power station and control area. The frequency of micronuclei (MN) in peripheral blood lymphocytes from pig was used as a biomarker of radiobiological effects resulting from exposure to environmental radiation. An estimated dose of radiation was calculated by a best fitting linear-quadratic model based on the radiation-induced MN formation from the swine lymphocytes exposed in vitro to radiation over the range from 0 Gy to 4 Gy. MN rates in lymphocytes of pig from Yeonggwang nuclear power station and control area were 10.60/1,000 and 11.10/1,000, respectively. There were no significant differences in MN frequencies and hematological values in pig between Yeonggwang and control area. The study indicates that the MN assay in lymphocyte of pig is a rapid, sensitive and accurate method that can be used to monitor a large population exposed to radiation.

The Radiobiological Evaluation on Abnormal Delivery of Cattle around Nuclear Power Plant using Micronucleus Assay in Lymphocyte (림프구 미소핵 측정법을 이용한 원자력발전소 주변 소의 이상산에 대한 방사선 생물학적 평가)

  • 김세라;김성호
    • Journal of Veterinary Clinics
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    • v.20 no.3
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    • pp.364-368
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    • 2003
  • Cytogenetic and hematological analysis was performed in peripheral blood from the cattle associated with abnormal delivery around nuclear power plant area. The frequency of micronuclei (MN) in peripheral blood lymphocytes from cattle was used as a biomarker of radiobiological effects resulting from exposure to environmental radiation. An estimated dose of radiation was calculated by best fitting linear-quadratic model based on the radiation-induced MN data over the range from 0 Gy to 4 Gy from the bovine lymphocytes with in vitro irradiation. MN rates in live malformed calf, dams of malformed calves and other cattle living in the same barn from the regions around nuclear power plant, and cattle in control area were 9/1000, 10.8/1000, 13.3/1000 and 10.0/1000, respectively. There were no significant differences in MN frequencies and hematological values between the cattle associated with abnormal delivery around nuclear power plant area and those of control area. This study indicates that the congenital abnormalities near nuclear power plant seemed to be caused by other aetiology.