• Title/Summary/Keyword: Chromosome analysis

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The Analysis of Chromosome Aberration in Workers Exposed to Low Level Benzene

  • Kim, Yangjee;Cho, Yoon-Hee;Chung, Hai-Won
    • Proceedings of the Korean Society of Toxicology Conference
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    • 2003.10b
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    • pp.147-147
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    • 2003
  • Human exposure to benzene is derived occupationally from the petrochemical and petroleum refining industries. This study was carried out to find whether the frequencies of chromosome aberrations in workers exposed to low level benzene in a petroleum factory were elevated compared to non-exposed workers.(omitted)

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

  • Jeon Hye Jeong;Kim Tae Hwan;Choi Soo Yong;Chung Hai won
    • Environmental Mutagens and Carcinogens
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    • v.25 no.4
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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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Computing of the Fuzzy Membership Function for Karyotype Classification (핵형 분류를 위한 퍼지 멤버쉽 함수의 처리)

  • Eom, Sang-Hee;Nam, Jae-Hyun
    • Journal of the Korea Society of Computer and Information
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    • v.11 no.6 s.44
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    • pp.1-8
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    • 2006
  • Many researchers have been studied for the automatic chromosome karyotype classification and analysis. For the automatic classify the each chromosome which is the image in microscope, it is necessary to process the sub-procedure, ie. image pre-processing, implementing karyotype classifier. The image pre-processing proceeded the each chromosome separation, the noise exception and the feature parameter extraction. The extracted morphological feature parameter were the centromeric index(C.I.), the relative length ratio(R.L.), and the relative area ratio(R.A.). In this paper, the fuzzy classifier was implemented for the human chromosome karyotype classification. The extracted morphological feature parameter were used in the input parameter of fuzzy classifier. We studied about the selection of the membership function for the optimal fuzzy classifier in each chromosome groups.

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Chromosome 11q13 deletion syndrome

  • Kim, Yu-Seon;Kim, Gun-Ha;Byeon, Jung Hye;Eun, So-Hee;Eun, Baik-Lin
    • Clinical and Experimental Pediatrics
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    • v.59 no.sup1
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    • pp.10-13
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    • 2016
  • Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.

Second locus for late-onset familial Amyotrophic Lateral Sclerosis (가족성 근위축성측삭경화증을 유발시키는 두 번째 유전자 위치)

  • 홍성출
    • Journal of Life Science
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    • v.11 no.3
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    • pp.279-283
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    • 2001
  • Amyotrophic lateral sclerosis(ALS) is a progressive neurologic disorder resulting from the degeneration of upper and lower motor neurons, and is inherited in 10% of cases. About 20% of familial ALS, clinically indistinguishable from sporadic ALS, is caused by mutations of Cu/Zn superoxide dismutase on chromosome 21q22.21 inherited as an autosomal dominant trait. We now report a new locus in the non-SOD1 dominantly inherited ALS. We screened a large ALS family with 11 affected individuals and one obligate gene carrier with genome-wide ABI polymorphic markers using the ABI 377 automated system. No evidence of linkage was obtained with the autosomal markers. We next screened this family with X chromosome markers as there was no evidence of male-to-male tran-smission of the disease. Linkage was established with several X chromosome markers with a lod score up to 3.8; almost the maximum possible score in this family. Our finding imply that a gene for the dominant expression of a neuronal degeneration is coded on X chromosome and raise the question of the role of X-linked genes that escape inactivation in this pathogenesis. More importantly, our finding that a gene causing ALS is localized on X-chromosome has direct investigational relevance to sporadic ALS, where epidemiological studies show male gender predominance(1.3:1) and earlier onset in men by 5-10 years.

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Lamin A/C and Polymeric Actin in Genome Organization

  • Ondrej, Vladan;Lukasova, Emilie;Krejci, Jana;Matula, Pavel;Kozubek, Stanislav
    • Molecules and Cells
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    • v.26 no.4
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    • pp.356-361
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    • 2008
  • In this work, we have studied the structural and functional linkage between lamin A/C, nuclear actin, and organization of chromosome territories (CTs) in mammary carcinoma MCF-7 cells. Selective down-regulation of lamin A/C expression led to disruption of the lamin A/C perinuclear layer and disorganization of lamin-bound emerin complexes at the inner nuclear membrane. The silencing of lamin A/C expression resulted in a decrease in the volume and surface area of chromosome territories, especially in chromosomes with high heterochromatin content. Inhibition of actin polymerization led to relaxation of the structure of chromosome territories, and an increase in the volumes and surface areas of the chromosome territories of human chromosomes 1, 2 and 13. The results show an important role of polymeric actin in the organization of the nuclei and the chromosome territories.

Chromosome Studies on the Cultured Uterine Carcinoma Cells (배양한 子宮癌세포의 염색체에 관한 연구)

  • Kang, Yung Sun;Kim, Suk Whan;Lee, Chung Keel
    • The Korean Journal of Zoology
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    • v.13 no.1
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    • pp.29-33
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    • 1970
  • The conclusions established in the present study on the chromosomes in vitro of the uterine carcinomas of Korean women are as follows: 1. The pattern of the distribution of chromosome number in uterine carcinoma cells was quite different from that of normal cells, and modal number of the chromosome was 45 and 46. 2. The frequency of diplochromosomes was 0.053 per cell (5.3%) and that of chromosome aberration was 0.16 per cell (16%), which are significantly higher than each of normal cells. In chromosome aberration types, chromatid and isochromatid deletions (chromatid type) and dicentric (chromosome type) were observed. 3. Idiogram analysis showed a tendency that the number of chromosomes belonging to group F increased while that of chromosomes in groups B and E decreased in total. The number of chromosomes in groups C and G in the hypodiploidy cells decreased, but it increased in the hyperdiploidy cells.

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Methodology of Chromosome Preparation and Banding Analysis in Gallus domesticus (닭 염색체의 분리 분석 방법에 관한 연구)

  • 손시환;오봉국
    • Korean Journal of Poultry Science
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    • v.14 no.2
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    • pp.89-96
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    • 1987
  • The purpose of this paper to present morphological normal chick chromosomes and develope avian cytogenetic techniques including chromosome preparation and banding technique. The early chick embryos provide a consistent source of material with hish mitotic cells. Although chick embryo tissue gives excellent preparations, the 4-5 days embryo is somewhat incovenient materials, Most imp of ant for avian Chromosome analysis are the technical protocols to achieve adequate preservation, spreading, and staining of the full chromosome complement. To precise chromosome analysis, pro-metaphase states are required. Best results of banding will be obtained from air dried slides prepared from early chick embryos that have been aged at least 1 week. Good G-banding differentiation is achieved by adequate trypsin digestion fellowed by staining in Goe,sa dye. The results of C-banding is influenced by many factors including the conditions of Ba(OH)$_2$, HCl treatment, and state of rinsing. In addition to precisely interprets banding patterns, the densitometric analysis is recommended.

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Bootstrapping and DNA Marker Mining of ILSTS098 Microsatellite Locus in Hanwoo Chromosome 2

  • Lee, Jea-Young;Kwon, Jae-Chul
    • Communications for Statistical Applications and Methods
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    • v.13 no.3
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    • pp.525-535
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    • 2006
  • We describe tests for detecting and locating quantitative traits loci (QTL) for traits in Hanwoo. Lod scores and a permutation test have been described. From results of a permutation test to detect QTL, we select major DNA markers of ILSTS098 microsatellite locus in Hanwoo chromosome 2 for further analysis. K-means clustering analysis applied to four traits and eight DNA markers in ILSTS098 resulted in three cluster groups. We conclude that the major DNA markers of BMS1167 microsatellite locus in Hanwoo chromosome 2 are markers 105bp, 113bp and 115bp. Finally, bootstrap testing method has been adapted to calculate confidence intervals and for finding major DNA Markers.

Analysis of Chromosome Composition of Gastrodia elata Blume by Fluorescent in situ Hybridization using rDNA and Telomeric Repeat Probes (rDNA와 말단소체 반복서열 탐침을 이용한 천마의 FISH 염색체 조성 분석)

  • Zhou, Hui Chao;Park, Eung Jun;Kim, Hyun Hee
    • Korean Journal of Medicinal Crop Science
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    • v.26 no.2
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    • pp.113-118
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    • 2018
  • Background: Gastrodia elata Blume is a saprophytic perennial plant in the Orchidaceae family, because of its agricultural and medicinal effectiveness, researchers focus on its genome and chemical components. However, cytogenetic information based on the chromosome structure and composition to construct chromosomal backbone for genome sequencing research and for the development and breeding of plants is very limited. Methods and Results: We determined the metaphase chromosome composition of the G. elata genome by fluorescence in situ hybridization (FISH) using 5S and 45S rDNAs and telomeric repeat probes. The nuclear genome of G. elata was organized into 2 n = 36, with relatively small ($2.71-5.50{\mu}m$)chromosomes that showed gradual decrease in size. Conglutination phenomenon was observed among the metaphase chromosomes, and it was distinguished from that in other plant metaphase chromosome spreads. One pair of signal was detected for each 5S and 45S rDNA in the pericentromeric region and interstitial region on the short arm of chromosomes 10 and 4, respectively, and telomeric DNA signals were detected in the terminal region of most chromosomes. Conclusions: To our knowledge, this is the first FISH chromosome composition result in G. elata and could be useful in more comprehensive molecular cytogenetic and genomic analyses as well as breeding programs of the medicinal plant G. elata.