• Title/Summary/Keyword: 염색체이상

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Karyotypic Analysis and Physical Mapping of rRNA Gene Loci in Persicaria tinctoria (쪽의 핵형분석과 rRNA 유전자의 염색체상 위치)

  • Choi, Hae-Woon;Lee, Sang-Hoon;Kim, Soo-Young;Bang, Jae-Wook
    • Korean Journal of Medicinal Crop Science
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    • v.16 no.3
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    • pp.195-198
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    • 2008
  • Karyotypic analysis and FISH (fluorescence in situ hybridization) with 45S and 5S rRNA genes were carried out in Persicaria tinctoria H Gross. The somatic metaphase chromosomes were ranged from 2.25 ${\mu}m$ to 1.50 ${\mu}m$ in length. Chromosome number was 2n = 4x = 40 with the basic number of x = 10. The chromosome complement of the species consisted of 16 pairs of metacentrics (chromososomes 1,2,3,4,6,7,8,9, 10, 11, 12, 13, 15, 18, 19 and 20) and 4 pairs of submetacentrics (chromosome 5, 14, 16 and 17). The karyotype formula was K(2n) = 4x = 32 m + 8 sm. In FISH analysis, three pairs of 45S rRNA gene loci on the terminal region of submetacentrics (chromosomes 5, 16 and 17) and two pairs of 5S rRNA gene loci on the centromeric region of metacentrics (chromosomes 9 and 11) were detected, respectively.

Effect of DNA Repair Inhibitors and Iron on the Chromosome Aberration Induced by Bleomycin and Hydrogen Peroxide in CHO Cells (DNA 회복합성저해제 및 철이 Bleomycin과 과산화수소에 의해 유발된 CHO 세포의 염색체 이상빈도에 미치는 영향)

  • 정해원;유은경
    • Journal of Environmental Health Sciences
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    • v.19 no.4
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    • pp.59-66
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    • 1993
  • The cellular toxicity and antitumor effects of bleomycin are thought to be occurred by formation of O$_2$-Fe$^{2+}$-bleomycin complexes that degrade DNA and release O$_2^-$ and $^{\cdot}$OH radicals. Hydroxyl radicals derived from hydrogen peroxide seem most likely to be involved in the various stages of carcinogenesis, and transition metals such as iron play a central role in activation of bleomycin and in formation of hydroxyl radicals. This study was performed to investigate whether treatment with ferrous sulfate increase chromosome aberration induced by bleomycin and hydrogen peroxide, and whether there is different repair mechanism for DNA damage induced by those chemicals. Treatment with 3AB, Ara C, during G$_1$ and post-treatment with caffeine, and Hu during G$_2$ increased the frequency of chromosome aberration induced by bleomycin but post-treatment with caffeine only did function that way when hydrogen peroxide was treated. When 6.6X 10$^{-7}$ M of bleomycin or 5.0X10$^{-5}$M of hydrogen peroxide were treated simultaneously with iron, the frequency of chromosome aberration was reduced, if compared with the results by bleomycin or hydrogen per oxide alone.

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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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Chromosome Aberrations of Styrene Exposed Workers (스티렌 취급근로자의 염색체이상연구)

  • Maeng, Seung Hee;Kang, Sung Kyu;Yang, Jung Sun;Lee, Jong Sung;Yu, Il Je
    • Journal of Korean Society of Occupational and Environmental Hygiene
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    • v.5 no.1
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    • pp.40-47
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    • 1995
  • We analyzed sytrene concentrations in air and in blood, mandelic acid in urine, and chromosome aberrations in peripheral lymphocytes of twenty one styrene-exposed workers in two reinforced plastic factories. In addition, in vitro testing for chromosome aberration was carried out. The dose-dependent clastogenicity of styrene was confirmed in the cultured Chinese hamster lung cell(CHL) with metabolic activation. The environmental styrene concentrations and urinary mandelic acid levels of analyzed subjects were different in two plants examined, but the exposure levels in most workers examined were lower than the permissible exposure levels. Chromosome aberrations of the styrene exposed workers showed no increase in the percentage of aberrant cells as compared with the control group. No correlation was found between the exposure levels and the frequencies of chromosome aberrations in workers.

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Hip Arthrodesis to Treat Severe Hip Osteoarthritis in an Adolescent with Down Syndrome (다운증후군 청소년의 중증 고관절 골관절염에서 고관절 유합술)

  • Jung, Yu-Hun;Shin, Keun-Young;Lee, Joo-Young
    • Journal of the Korean Orthopaedic Association
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    • v.56 no.2
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    • pp.164-167
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    • 2021
  • Down syndrome is the most common chromosomal disorder and is accompanied by hip osteoarthritis in approximately 28% of patients. This paper reports a case of hip arthrodesis as a treatment for severe hip osteoarthritis in adolescent Down syndrome patients. When performing surgical treatment of patients with Down syndrome, it is necessary to take a comprehensive approach that considers not only the medical point of view, but also the psychological and economic requirements of the patient and their social environment.

Genetic Diagnosis of Beckwith Wiedemann Syndrome using Methylation Specific PCR-RFLP Method (Methylation Specific PCR-RFLP 방법을 이용한 Beckwith Wiedemann Syndrome의 진단)

  • Kim, Gu-Hwan;Lee, Jin-Joo;Choi, Seung-Hoon;Lee, Joo-Yeon;Lee, Beom-Hee;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.7 no.2
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    • pp.133-137
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    • 2010
  • Purpose: Beckwith-Wiedemann syndrome (BWS) is an overgrowth malformation syndrome caused by a methylation abnormality at chromosome 11p15, consisting of two imprinting centers, BWSIC1 (IGF2, H19) and BWSIC2 (LIT1, KvDMR). This study evaluated the applicability of a methylation-specific (MS) PCR RFLP method for the genetic diagnosis of BWS. Materials and Methods: A total of 12 patients were recruited based on clinical findings. Karyotyping was performed using peripheral blood leukocytes, and genomic DNA was treated with bisulfate and amplified using methylation-specific primers. RFLP was conducted with restriction enzymes in differentially methylated regions of LIT1, H19, and IGF2. Results: The 12 BWS patients had normal karyotypes. Abnormal methylation patterns in the BWSIC2 (LIT1) region were identified in seven patients (58.3%) using the MS-PCR RFLP method. Conclusions: The MS-PCR RFLP method is a simple, economical genetic test. It detected genetic abnormalities in 50-60% of BWS patients, suggesting that it can be used as a screening test. A more precise method is required, however, to enhance the detection rate of genetic abnormalities, especially in BWSIC1 region.

Microbiological and Genotoxicological Safety of Gamma-Irradiated Chicken (감마선조사 닭고기의 미생물학적 및 유전독성학적 안전성 평가)

  • 곽희진;정차권;강일준
    • Korean journal of food and cookery science
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    • v.17 no.6
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    • pp.617-624
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    • 2001
  • Gamma irradiation (1-10 kGy) was applied to chicken for the evaluation of their microbiological safety and possible genotoxicity. In 3 kGy-irradiated sample, the growth of psychrophile was inhibited about 1.5 log cycles and no cells were recovered in total microbial counts. All kinds of contaminated microorganism were sterilized by 7 kGy-irradiation. Also, irradiation followed by freeze-storage at the same time was very effective in inhibiting bacterial growth. The genotoxicity of 10 kGy-irradiated chicken was evaluated by Salmonella Typhimurium reversion assay and in vivo micronucleus assay using mouse bone marrow cells. The results were negative in the bacterial reversion assay with S. Typhimurium TA98, TA100, TA1535, and TA1539. Clastogenic effects were not shown in vivo mouse micronucleus assay at 10 kGy-dose tested.

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CROUZON SYNDROME : CASE REPORT (Crouzon 증후군 환자의 증례보고)

  • Lee, Su-Jin;Kim, Young-Jae;Jang, Ki-Taek;Lee, Sang-Hoon;Kim, Chong-Chul;Hahn, Se-Hyun;Kim, Jung-Wook
    • Journal of the korean academy of Pediatric Dentistry
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    • v.36 no.1
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    • pp.133-138
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    • 2009
  • Crouzon syndrome is a rare disease, first decribed by Crouzon in 1912. This syndrome is cuased by mutations in the FGFR2 gene, which is mapped to chromosome locus 10q25-10q26. The condition occurs in about 1 of every 25,000 birth and is inherited as an autosomal dominant trait. We experienced a case of Crouzon's disease in a 9-year-old-female child. Physical examination revealed craniosynostosis, hypertelorism, exophthalmos, hypoplastic maxilla and a relative mandibular prognathism. The purpose of this study is to report the dental and medical characteristics of the patient and review the literatures of Crouzon syndrome.

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Some Facts in the Course of the Segregation and Selection of the Sex-limited Inheritance Character of Silkworm Larval Marking (한성형잠 분리 선발 과정에서의 몇 가지 사실에 관하여)

  • 이상풍;홍기원;김계명
    • Journal of Sericultural and Entomological Science
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    • v.17 no.1
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    • pp.47-53
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    • 1975
  • This experiment was carried out to obtain a marked larvae in sex-limited inheritance, using F$_1$ hybrid Bo ok X Chun san introduced from Japan. Sequence of backcrossing has been done through the earlier generation with a recessive character of plain marked larvae. 1. It is noted that genotypic segregation of sex-limited larval marking was observed in F$_4$ generation; female possesses larval marking and male shows a plain marking. 2. Larval marking heredity follows a diagram of segregation with an expected genotype such as ♀ : (W$.$+p)/Z$.$P/P and ♂ : Z/Z$.$P/P. 3. It is observed that dissociation was occurred to produce female with a genotype of W/Z$.$P/P in segregation ana selection. 4. Abnormal ratio of sexuality is observed in the course of segregation and segregation and analysis of it is continuously under way. 5, It is observed that the difference of qualitative characteristics between female and male obtained from the original variety shows the same tendency as the normal marked variety.

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DENTAL MANAGEMENT OF CHILDREN WITH CORNELIA DE LANGE SYNDROME (Cornelia de Lange Syndrome 환아의 치과 치료)

  • Baik, Byeong-Ju;Kim, Jae-Gon;Yang, Yeon-Mi;Park, Jong-Ha;Kim, Sung-Hee
    • Journal of the korean academy of Pediatric Dentistry
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    • v.31 no.1
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    • pp.120-125
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    • 2004
  • Cornelia de Lange syndrome is a disorder of unknown etiology resulting in an syndrome characterized by specific dysmorphic features. Therefore this syndrome is diagnosed only by clinical features and other examinations for diagnostic aim are not effective. There are general growth retardation, mental retardation, hypertrichosis, confluent eye brows, low hair line, broad nasal bridge, anteverted nose tip, malformed limbs, webbing of toes, heart defect, gastroesophageal reflux disease, ear and ocular problems. Features associated oral structures are micrognathia, delayed eruption of teeth, cleft lip, cleft plate, thin upper lip and downturned angles of mouth. These are cases about two children who visited Department of Pediatric Dentistry of Chonbuk National University because of dental caries with Cornelia do Lange syndrome.

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