• Title/Summary/Keyword: 중기염색체

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CYTOGENETIC ANALYSIS OF CHILDREN WITH AUTISM (자폐장애 환자의 세포유전학적 분석)

  • Jung, Chul-Ho;Lee, Je-Young;Park, Young-Nam;Park, Jong-Han;Kim, Jung-Bum;Kim, Jae-Ryong;Chun, Hyo-Jin
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.5 no.1
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    • pp.108-117
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    • 1994
  • Twenty nine children with autism and thirty children with mental retardation were examined for association between autism and chromosomal disorders including fragile X. The peripheral blood was cultured in Medium 199 with methotrexate and without methorexate for 70 hours. Thirty metaphase cells in each case were karyotyped in all samples. Chromosomal abnormalities were found in 11 cases(37.9%) of autistic disorder and 10 cases (33.3%) of mental retardation, but in none of fragile(X)(q27.3) from all cases. Chromosomal abnormalities were present on group A, C, D and X in autistic disorder and on group A, B, C, D, E and X in mental retardation. No specific chromosomal region was found in both autistic disorder and mental retardation. Types of chromosomal disorders were only fragile and/or gap but no numerical abnormality was present in all cases. Number of cells which revealed fragile sites were 31 cells(3.6%) out of 870 cells in autistic disorder and 29 cells(3.2%) out of 900 cells in mental retardation Number of cells which revealed gaps were 43 cells(4.9%) out of 870 cells in autistic disorder and 35 cells(3.9%) out of 900 cells in mental retardation. Autistic disorder may not be directly correlated with fragile X but with nonspecific chromosomal breakages from these data.

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Chromosomes of Arkshell, Scapharca broughtonii Schrenck (피조개의 염색체)

  • YOO Myong-Suk;LEE Jeong-Mee;KIM Il-Bong
    • Korean Journal of Fisheries and Aquatic Sciences
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    • v.25 no.3
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    • pp.171-175
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    • 1992
  • In 1991, specimens of the arkshell, Scapharca broughtonii of Arcidae(Ptriomorphia, Mollusca) were collected from bottom culture bed at Namhae Island in Korea. The chromosomes were examined in the colchicinetreated cells of trochophore larva based on the air-drying method. Diploid number of the chromosome was 38 which were classified as metacentrics(pairs 5, 8, 13), meta or submetacentrics(pairs 6, 7), submetacentrics(2, 3, 9, 10, 12, 15, 16, 17, 18, 19) and subtelocentrirs(pairs 1, 4, 11, 14). No telocentric chromosome was observed.

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A Genotoxicity Study of Transgenic Tomatoes using CRISPR/Cas9 (CRISPR/Cas9에 의한 유전자교정 토마토의 유전독성평가)

  • Dong-Min Kang;Woo-Jin Jeong;Bashu Dev Neupane;Yu Jin Jung;Jong Mi Kim;Kwon Kyoo Kang;Mi-Jeong Ahn
    • Journal of Food Hygiene and Safety
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    • v.39 no.4
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    • pp.312-321
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    • 2024
  • Tomato is a widely distributed, cultivated, and commercialized vegetable crop. Recently, an increasing trend has been observed in the consumption of transgenic crops with enhanced functional components. However, consumer concerns regarding genotoxicity have been increasing. This study examined the genotoxicity of transgenic tomato (LTT) using the CRISPR/Cas9 system through a bacterial reverse mutation assay, chromosomal aberration assay, and mammalian micronucleus test. In the bacterial reverse mutation assay, LTT did not induce mutagenicity in Salmonella typhimurium strains TA98, TA100, TA1535, and TA1537, or Escherichia coli WP2uvrA, irrespective of the presence or absence of S9. LTT did not cause clastogenic or aneugenic chromosomal abnormalities during metaphase in CHL cells. Moreover, LTT did not increase the frequency of micronucleated polychromatic erythrocytes in the polychromatic erythrocytes. These findings can be used as a foundation to assess the genotoxicity of transgenic crops using the CRISPR/Cas9 system in the future.

Aberrant Microtubule Assembly and Chromatin Configuration of Homan Oocytes Which Failed to Complete Fertilization Following In Vitro Fertilization and Intracytoplasmic Sperm Injection (일반적 수정과 세포질내 정자주입법에 의해 수정에 실패한 인간난자의 미세소관과 염색체의 형태이상)

  • Chung, H. M.;Kim, N. H.;Kim, J. W.;J. M. Lim;Park, C.;J. J. Ko;K. Y. Cha;Kim, J. M.;K. S. Chung
    • Korean Journal of Animal Reproduction
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    • v.24 no.2
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    • pp.143-154
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    • 2000
  • Most eggs initiated the fertilization processes but arrested at specific stages. The stages included failure of the oocyte to exit from the meiotic metaphase-II with or without sperm penetration, failure of appropriate sperm aster formation, inability to form proper male and female pronuclei, failure of suitable pronuclear apposition, and failure to form proper number of either male or female pronuclei. Various images of defective microtubule organization and chromatin configuration during IVF and ICSI procedures were observed. We discussed the data with previous research results during normal fertilization in humans and other mammals. In conclusion, various aberrant patterns in microtubule assembly and chromatin configuration, which were assessed in the present study, could be used as criteria to improve assisted reproductive technology in clinics. However, further cellular and molecular characterization is needed to clarify these aberrant patterns of cytoskeletal assembly.

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Midtrimester Amniocentesis for Prenatal Diagnosis (산전 진단을 위한 임신 중기 양수 천자)

  • Kim, Sook-Ryung;Choi, Eun-Jung;Kim, Tae-Yoon;Kwon, Kyoung-Hun;Song, Nam-Hee;Oh, Sun-Kyung;Chi, Hee-Jun
    • Journal of Genetic Medicine
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    • v.5 no.2
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    • pp.125-130
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    • 2008
  • Propose: To analyze the indications and cytogenetic results of midtrimester amniocentesis. Material and Methods: This study reviewed 2,523 cases of midtrimester prenatal genetic amniocentesis performed at MizMedi Hospital between January 2000 and December 2007. Results: The most frequent indication for midtrimester amniocentesis was advanced maternal age (45.9%), followed by positive serum markers (29.9%). Chromosomal aberrations were diagnosed in 110 cases (4.4%), for which numerical aberration accounted for 38 cases (34.5%), structural aberration accounted for 65 cases (59.1%), and mosaicism accounted for 7 cases (6.4%). Among the autosomal aberrations, there were 20 cases of trisomy 21 and 8 cases of trisomy 18. With respect to structural aberrations, there were 14 cases of reciprocal translocation and 8 cases of robertsonian translocation. The frequencies of chromosomal aberrations according to the indication were highest in individuals with a family history of chromosome abnormality 14.0% (8/57) followed by previous congenital anomaly 5.9% (2/34). Conclusion: Midtrimester amniocentesis is an effective tool for prenatal diagnosis. Indications such as advanced maternal age, maternal serum markers, and ultrasound are important for predicting abnormal fetal karyotypes.

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Speciation Mode Reconstruction for Lepilemur six species (L. mustelinus, L. edwardsi, L. dorsalis, L. leucopus, L. ruficaudatus, L. septentrionalis) Based on the Lepilemur Karyotype Analysis (여우원숭이속(Lepilemuridae)의 핵형 분석을 통해 나타난 Lepilemur 6종(L. mustelinus, L. edwardsi, L. dorsalis, L. leucopus, L. ruficaudatus, L. septentrionalis)의 종 분화 양상)

  • 정기윤
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.5 no.2
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    • pp.141-149
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    • 2004
  • The aim of this study was to test the validity of the hypothesis that the karyotypes of four species of Lepilemuridae were formed spontaneously from their ancestral hybrid karyotype. Hypothetical ancestral haploid Karyotype of Lepilemuridae is composed of 18 autosomes and X chromosomes. Lepilemur mustelinus karyotype has four tandem fused chromosomes and one Robertsonian translocated chromosome pairs. Lepilemur septentrionalis septentrionalis karyotype has only two pairs of translocated chromosomes. We reconstruct and suggest ancestral karyotype of LMU(ancLMU) and LSS(ancLSS), from which all four studied species were derived. Hybrids of ancLMU and ancLSS were formed and produce differently fused equilibrated gametes via circular form arrangement during gametogenesis. Five unit of trivalent homologous chromosome pairs were engaged in a circular form to give new gamete corresponding to the karyotype of L. dorsalis, orientation of one unit of trivalent was inversed in the circle to gave new gamete corresponding to the karyotype of L. leucopus. Seven homologous chromosome pairs were engaged in circular form to give haploid karyotype of Lepilemur ruficaudatus. Only one homologous chromosome pair is dissociated and the other chromosome pairs rearranged in the circle to form haploid karyotype of Lepilemur edwardsi. The new gametes could be produced from these circular forms. When the new gamete fertilized with the same type of gamete, The new homozygote is produced as existing L. dorsalis, L. leucopus, L. edwardsi and L. ruficaudatus. These results support the theory that new species could be formed in hybrid population through activated chromosome fusion, chromosome rearrangement in circular from at zygotene stage and production of equilibrated gametes to form homozygote new species.

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Karyokinesis in Embryos of far Eastern Catfish, Silurus asotus (메기 Silurus asotus 발생난의 핵분열)

  • 임재현;박인석;정지혜;김동수
    • Journal of Aquaculture
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    • v.15 no.4
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    • pp.275-277
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    • 2002
  • To obtain baseline data required for ploidy induction in Silurus asotus, a species with enormous aquacultural potential, histological events related to early embryonic development at 24$\pm$0.5$^{\circ}C$ are described. The histological location of the one-celled embryos indicated that metaphase stage of the first cleavage occurs at 31 min after insemination, when the highest yield can be obtained for the chromosome set manipulation.

MAPK Activity in Porcine Oocytes Maturing InVitro (유사분열 활성화 단백질 효소가 돼지난자의 체외성숙에 미치는 영향)

  • Lee, Jae-Dal
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.11 no.6
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    • pp.2124-2128
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    • 2010
  • In this study, we determined effects of the mitogen-activated protein kinase (MAPK) inhibitor, U0126 on meiotic maturation, microtubule organization and actin filament assembly in the porcine oocyte. The phosphorylated MAPK was first detected at 12 h after the initiation of maturation cultures, fully activated at 24h, and remained until metaphase II. Treatment of germinal vesicle (GV) stage oocytes with $20{\mu}M$ U0126 completely blocked MAPK phosphorylation, but germinal vesicle breakdown (GVBD) was normally proceeded. However, the oocytes didn‘t progress to the metaphase I. The inhibition of MAPK resulted in abnormal spindles. In oocytes treated with U0126 after GVBD, polar body extrusion was normal, but the organization of the metaphase plate and chromosome segregation were abnormal. In conclusion, MAPK activity plays an important regulatory role in GV chromatin configuration and meiotic progress in porcine oocyte maturation.

Prenatally Diagnosed Uncommon Mosaic Autosomal Trisomy

  • Lee, Bom-Yi;Park, So-Yeon;Lee, Moon-Hee;Kim, Jin-Woo;Park, Ju-Yeon;Choi, Eun-Young;Lee, Yeon-Woo;Oh, Ah-Rum;Lee, Shin-Young;Kim, Min-Hyung;Ryu, Hyun-Mee
    • Journal of Genetic Medicine
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    • v.6 no.1
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    • pp.95-99
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    • 2009
  • Prenatal diagnosis of rare autosome mosaicism involvingchromosomes other than chromosome 13, 18, 21 or the sex chromosome is encountered prognostic dilemma during genetic counseling. We report four cases of level III uncommon mosaicism of trisomy 5, 16 and 20,diagnosed prenatally. In case 1 with mosaic trisomy 20, there was a higher mosaic ratio of trisomy 20 in the repeat amniocentesis (62.1%) than in the first (36.6%) with normal fetal ultrasound finding except for a relatively small aorta on a 3-vessel view of the fetal heart. Case 2 showed a low rate of mosaic trisomy 20 (5.25%) in cultured amniocytes but normal karyotype in the repeat amniocentesis, who delivered a normal healthy baby. Case 3 showed a 13.6% of trisomy 16 mosaicism in the 30 cells of cultured amniocytes. Sixty cells from a fetal blood sample at termination showed non-mosaic 46,XX normal karyotype, while skin fibroblasts had 22.5% trisomy 16 in 40 metaphases. The autopsy showed ventricular septal defect (VSD). Case 4 with low grade mosaicism (10.5%) of trisomy 5 resulted in elective termination, though the ultrasoumd showed growsly normal fetus. Although level III mosaicism is regarded as true mosaicism, it is difficult to predict the outcome of the fetus with rare mosaic autosome trisomy. Therefore mosaic autosome trisomy of fetus should be carefully interpreted with more various approaches including repeat sampling and targeted fetal ultrasound.

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Genotoxicity Studies on Corn Silk Extract Containing High Maysin (고메이신 함유 옥수수수염 추출물의 유전독성학적 안전성 연구)

  • Ha, Ae Wha;Kang, Hyeon Jung;Kim, Sun Lim;Kim, Myung Hwan;Kim, Woo Kyoung
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.46 no.9
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    • pp.1045-1052
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    • 2017
  • In this study, a battery of genetic-toxicity studies on corn silk extract with high maysin content were performed according to internationally accepted protocols. In a mutation test using Salmonella Typhimurium TA1535, TA1537, TA98, and TA100, the number of mutant colonies did not significantly increase up to a maximum concentration of $5,000{\mu}g/plate$ in the presence or absence of the S9 metabolic activation system. In the chromosome aberration test using Chinese hamster lung fibroblasts, negative results were observed in the concentration up to $1,250{\mu}g/mL$ of corn silk extract. In the micronucleus test using ICR mice, incidence of polymorphonuclear erythrocytes with a maximum concentration of 2,000 mg/kg corn silk extract did not show any significant difference compared to the negative control group. Based on these results, the test substance, con silk extract, did not influence genotoxicity.