• Title/Summary/Keyword: cytogenetic

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A Report of Fallot's Tetralogy in Siblings (형제에서 발생한 활로4증)

  • Lee, Sang-Ho;Lee, Yung-Kyoon
    • Journal of Chest Surgery
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    • v.13 no.2
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    • pp.105-109
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    • 1980
  • Tetralogy of Fallot has shown its familial aggregation in several familial studies. This reported case is another example which occurred in a family in two brothers. They revealed no cytogenetic abnormalities, but the anatomical cardiac malformation of them showed much similarity, total conal defect in ventricular septum and .one had patent foramen ovale, the other atrial septal defect. The familial recurrence tendency of Tetralogy of Fallot as well as other congenital heart diseases could be explained on multifactorial inheritance as shown in many reports. In spite that we couldn`t find out any environmental trigger or teratogens, our case may be accepted on the base of multifactorial mechanism.

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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.

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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Genotoxicity of Capsaicin in Cultured Human Lymphocytes

  • Lee, Sang-Sup;Park, Young-Ho;Sohn, Yeowon;Ryu, Soo-Jung;Surh, Young-Joon
    • Environmental Mutagens and Carcinogens
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    • v.15 no.2
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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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A case of partial trisomy 3p syndrome with rare clinical manifestations

  • Han, Dong-Hoon;Chang, Ji-Young;Lee, Woo-In;Bae, Chong-Woo
    • Clinical and Experimental Pediatrics
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    • v.55 no.3
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    • pp.107-110
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    • 2012
  • Partial trisomy 3p results from either unbalanced translocation or $de$ $novo$ duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4)(p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.

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 Studies of Scila scilloides Complex from Korea I. Distribution of Genomes and Composition and Frequencies of B Chromosome (한국 무릇(Scilla scilloides Complex)의 세포유전학적 연구 I. 게놈에 따른 분포 및 B염색체의 조성과 출현 빈도)

  • 최혜운
    • Journal of Plant Biology
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    • v.33 no.4
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    • pp.237-242
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    • 1990
  • Geographical distribution of diploid plant with AA genome (2n=16) and allotetraploid with AABB genome (2n=34) of Scilla scilloides Complex from Korea has been studied. The composition and frequencies of B chromosomes ere also investigated. Plants with AABB genome were predominant over AA genome plants. A mixed population of AA and AABB genome plants was found for the first time. Aneuploid plants have not been found. Chromosomes of AA genome were composed of three pairs of metacentric, two pairs of submetacentric, two pairs of subtlocentric and one pair of telocentric chromosomes, whereas BB genome was four pairs of metacentric and five pairs of subtelocentric chromosomes. B chromosomes were classified into two categories, isochromosome (F) and chromosome fragment (f). The frequencies of B chromosomes were 43% in AA genome plants and 44% in AABB genome plants. The number of B chromosome ranged from 1 to 3 and 1 to 7 in AA and AABB genome plants, respectively. B chromosome combinations were F and F+f in AA genome plants and F, F+f and f in AABB genome plants.

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Cytogenetic Studies of Some Tetraploids in Allium (Allium속내 수종의 사배체에 대한 세포유전학적 연구)

  • 서봉보
    • Journal of Plant Biology
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    • v.20 no.2
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    • pp.71-76
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    • 1977
  • The present paper was carried out to clear up the polyploidal constitution and the banding pattern of three species in tetraploidal Allium(X=8) through the studies of meiosis, karyotype and G-bands. From the meiotic data and G-banding patterns obtained under this study, it is confirmed that A. tuberosum and A. chinense are autotetraploids, and A. senescens is allotetraploid. Some aneuploids out of the employed species were found; A. senescens is 2n=34, and A. chinense is 2n=33. The chromosome types of these species are meta-and submetacentrics except the sat-chromosomes and the f-chromosomes. G-bands of these species are generally located in the end of each arm. A. senescens is similar in the quantity of heterochromatin with A. chinense, but A. tuberosum has a little than the other species. The quantity of heterochromatin is higher in small groups of chromosome than large ones, and higher in short arms than long arms.

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