• Title/Summary/Keyword: CHROMOSOME

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Chromosome Analysis System based on Knowledge Base for CAI (지식 베이스를 이용한 교육용 염색체 분석 시스템)

  • 박정선;신용원
    • Proceedings of the Korea Inteligent Information System Society Conference
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    • 2001.06a
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    • pp.215-222
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    • 2001
  • The task for chromosome analysis and diagnosis by experienced cytogenetists are being concerned as repetitive, time consuming job and expensive. FOr that reason, chromosome analysis system based on knowledge base for CAI had been established to be able to analyze chromosomes and obtain necessary advises from the knowledge base instead of human experts. That s to say, knowledge base by IF THEN production rule was implemented to a knowledge domain with normal and abnormal chromosomes, and then the inference results by knowledge base could enter the inference data into the database. Experimental data were composed of normal chromosome of 2,736 patients'cases and abnormal chromosomes of 259 patients'cases that have been obtained from GTG-banding metaphase peripheral blood and amniotic fluid samples. The complete system provides variously morphological information by analysis of normal or abnormal chromosomes and it also has the advantage of being able to consult with user on chromosome analysis and diagnosis.

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Deletion or Duplication Syndromes of Chromosome 22: Review

  • Kyung Ran Jun
    • Journal of Interdisciplinary Genomics
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    • v.6 no.1
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    • pp.1-5
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    • 2024
  • Chromosome 22 is an acrocentric chromosome containing 500-600 genes, representing 1.5%-2% of the total DNA in cells. It was the first human chromosome to be fully sequenced by the Human Genome Project. Several syndromes involving the partial deletion or duplication of chromosome 22 are well descibed, including 22q11.2 deletion syndrome, 22q11.2 duplication syndrome, 22q11.2 distal deletion syndrome, Phelan-McDermid syndrome caused by a 22q13 deletion or pathogenic variant in SHANK3, and cat-eye syndrome caused by a 22 pter-q11 duplication. This review aims to provide concise information on the clinical characteristics of these syndromes. In particular, the similarities in features among these syndromes, genetic basis, and standard detection techniques are described, providing guidance for diagnosis and genetic counselling.

Identification of a Human Y Chromosome Specific DNA Probe and Their Clinical Application by Fluorescence in situ Hybridization Techniques (사람 Y 염색체 특이 DNA Probe의 개발과 이를 이용한 FISH 기술의 임상적 적용)

  • Ryu, Ran-Suk;Lee, Sang-Chan;Lee, Chae-Sik;Kim, Jong-Heung;Ryu, Eun-Koung;Sohn, Sea-Hwan
    • Clinical and Experimental Reproductive Medicine
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    • v.27 no.4
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    • pp.405-415
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    • 2000
  • Objective: The present study was undertaken to synthesize a human Y chromosome specific probe and to confirm the usefulness of the probe for fluorescence in situ hybridization (FISH) in various types of human cells. Methods: An approximately 400 bp DNA fragment of the DYZ1 sequences was synthesized by PCR using digoxigenin labeled dUTP (dig-PCR). The fidelity of probe was tested by FISH for cultured and uncultured human lymphocytes, amniocytes, chorionic villus cells, embryos, sperms, and germ cells of seminiferous tubule. Results: The human Y chromosome specific probe hybridized specifically to Y chromosome of the cells that had been tested. This probe assigned to the Yq12 region where the DYZ1 repetitive sequence is concentrated. Conclusion: We have identified a human Y chromosome specific probe that hybridized specifically to the Y chromosome by FISH for various types of uncultured as well as cultured cells. Therefore FISH technique using human Y chromosome specific probe should be useful for clinical application as a diagnostic tool for the detection of human Y chromosome.

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The Genetic Algorithm using Variable Chromosome with Chromosome Attachment for decision making model (의사결정 모델을 위한 염색체 비분리를 적용한 가변 염색체 유전 알고리즘)

  • Park, Kang-Moon;Shin, Suk-Hoon;Chi, Sung-Do
    • Journal of the Korea Society for Simulation
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    • v.26 no.4
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    • pp.1-9
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    • 2017
  • The Genetic Algorithm(GA) is a global search algorithm based on biological genetics. It is widely used in various fields such as industrial applications, artificial neural networks, web applications and defense industry. However, conventional Genetic Algorithm has difficulty maintaining feasibility in complicated situations due to its fixed number of chromosomes. This study proposes the Genetic Algorithm using variable chromosome with chromosome attachment. And in order to verify the implication of changing number of chromosomes in the simulation, it applies the Genetic Algorithm using variable chromosome with chromosome attachment to antisubmarine High Value Unit(HVU) escort mission simulation. As a result, the Genetic Algorithm using variable chromosome has produced complex strategies faster than the conventional method, indicating the increase of the number of chromosome during the process.

Pattern Classification of Chromosome Images using the Image Reconstruction Method (영상 재구성방법을 이용한 염색체 영상의 패턴 분류)

  • 김충석;남재현;장용훈
    • Journal of the Korea Institute of Information and Communication Engineering
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    • v.7 no.4
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    • pp.839-844
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    • 2003
  • To improve classification accuracy in this paper, we proposed an algorithm for the chromosome image reconstruction in the image preprocessing part. also we proposed the pattern classification method using the hierarchical multilayer neural network(HMNN) to classify the chromosome karyotype. It reconstructed chromosome images for twenty normal human chromosome by the image reconstruction algorithm. The four morphological and ten density feature parameters were extracted from the 920 reconstructed chromosome images. The each combined feature parameters of ten human chromosome images were used to learn HMNN(Hierarchical Multilayer Neural Network) and the rest of them were used to classify the chromosome images. The experimental results in this paper were composed to optimized HMNN and also obtained about 98.26% to recognition ratio.

Chromosome Analysis by GTG, High-Resolution, and NOR-banding Techniques in the Dog (Cams familaris) (GTG, High-Resolution, Nor-banding에 의한 개의 염색체 분석)

  • 김종봉;윤인숙
    • Journal of Life Science
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    • v.12 no.5
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    • pp.605-609
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    • 2002
  • None of the numerous published canine idiograms and karyotypes has yet been generally accepted as a standard one because the dog has 76 acrocentric autosomes of similar size and shape. To establish canine banded karyotype from the 22nd chromosome to the 37th chromosome, we analyzed canine chromosomes by GTG, high resolution, and NOR-banding techniques. The GTG and high resolution banding patterns of canine chromosomes corresponded to other reports described previously except for a few chromosomes. While other researchers observed 12 bands, we observed 7 bands in the banding patterns of chromosome 24, 34 and 37. On the other hand, the banding patterns by NOR-banding technique showed that three pairs of autosomes have nucleolus organizer regions at the terminal ends of their long arm, and the Y chromosome has it in its short arm terminal. However, the X chromosome has no nucleolus organizer like other mammals.

Identification of Female Specific Genes in the W Chromosome that are Expressed during Gonadal Differentiation in the Chicken

  • Rallabandi, Harikrishna Reddy;Yang, Hyeon;Jo, Yong Jin;Lee, Hwi Cheul;Byun, Sung June;Lee, Bo Ram
    • Korean Journal of Poultry Science
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    • v.46 no.4
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    • pp.287-296
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    • 2019
  • Avian sex determination system involves the male ZZ and female ZW chromosomes. However, very few studies are reported the expression, functional role and importance of genes on the W chromosome because of its small and highly heterochromatic genomic regions. Recent studies demonstrated that the W chromosome may have critical roles in physiology, sex determination and subsequent sexual differentiation in chickens. Therefore, gene annotation, including describing the expression and function of genes in the chicken W chromosome, is needed. In this study, we have searched the W chromosome of chickens and selected a total of 36 genes to evaluated their specific expression in the testis and ovary at various developmental stages such as embryonic day 6 (E6), hatch and adult. Interestingly, out of 36 genes in chicken W chromosome, we have found seven female-specific expression at E6.5 day, indicating that they are functionally related to female chicken gonadal differentiation. In addition, we have identified the stage specific gene expression from the sex specific genes. Furthermore, we analyzed the relative location of genes in the chicken W chromosome. Collectively, these results will contribute molecular insights into the sexual determination, differentiation and female development based on the W chromosome.

Morphological and Chromosomal Charateristics of the Three Introduced Cyprinid Species (Cyprinidae) (도입된 잉어과 어류 3종의 외부형태 및 염색체 특징)

  • Kim, Seong-Won;Choi, Nack-Joong;Lee, Jong-Yun;Lee, Wan-Ok;Jang, Seon-Il
    • Korean Journal of Ichthyology
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    • v.8 no.2
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    • pp.68-73
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    • 1996
  • This study was carried out to obtain the basic information on morphological and chromosomal charateristics in the three species of Chinese carps (grass carp; Ctenopharyngodon idellua, bighead carp; Aristichthys nobilis, and silver carp; Hypophthalmichthys molitrix) introduced to Korea from China. C. idellua was differ from A. nobilis and H. molitrix by the number of gill rakers, scales, fin rays, body proportion. A. nobilis and H. molitrix were similar in having ventral keel and many scale number, but H. molitrix was differ from A. nobilis by the connected gill rakers and body color pattern. Diploid chromosome and arm number (fundamental number, NF) of the three species were all the same to 2n=48 and NF=84. Diploid chromosome numbers in the three species are consisted of 10 pairs of metacentric chromosome, 8 pairs of submetacentric chromosome and 6 pairs of acro and/ or telocentric chromosome. Morphological and karyological relationship of the three Chinese carps are discussed.

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Chromosome numbers and polyploidy events in Korean non-commelinids monocots: A contribution to plant systematics

  • JANG, Tae-Soo;WEISS-SCHNEEWEISS, Hanna
    • Korean Journal of Plant Taxonomy
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    • v.48 no.4
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    • pp.260-277
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    • 2018
  • The evolution of chromosome numbers and the karyotype structure is a prominent feature of plant genomes contributing to or at least accompanying plant diversification and eventually leading to speciation. Polyploidy, the multiplication of whole chromosome sets, is widespread and ploidy-level variation is frequent at all taxonomic levels, including species and populations, in angiosperms. Analyses of chromosome numbers and ploidy levels of 252 taxa of Korean non-commelinid monocots indicated that diploids (ca. 44%) and tetraploids (ca. 14%) prevail, with fewer triploids (ca. 6%), pentaploids (ca. 2%), and hexaploids (ca. 4%) being found. The range of genome sizes of the analyzed taxa (0.3-44.5 pg/1C) falls well within that reported in the Plant DNA C-values database (0.061-152.33 pg/1C). Analyses of karyotype features in angiosperm often involve, in addition to chromosome numbers and genome sizes, mapping of selected repetitive DNAs in chromosomes. All of these data when interpreted in a phylogenetic context allow for the addressing of evolutionary questions concerning the large-scale evolution of the genomes as well as the evolution of individual repeat types, especially ribosomal DNAs (5S and 35S rDNAs), and other tandem and dispersed repeats that can be identified in any plant genome at a relatively low cost using next-generation sequencing technologies. The present work investigates chromosome numbers (n or 2n), base chromosome numbers (x), ploidy levels, rDNA loci numbers, and genome size data to gain insight into the incidence, evolution and significance of polyploidy in Korean monocots.

Chromosome Aberration in Suspension Culture of Ginseng(Panax ginseng C. A. Meyer) Callus (인삼 캘러스 현탁배양에 있어서의 염색체 이상)

  • Park, Jong-Bum
    • Journal of Environmental Science International
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    • v.15 no.12
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    • pp.1193-1197
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    • 2006
  • This study was to examine the variations of chromosome number and the ranges of variety in the suspension culture of ginseng (Panax ginseng C. A. Meyer) callus cell, and the effect of plant hormones for the chromosome aberration. Plant hormones added with MS medium in the suspension culture were 2,4-D, kinetin, and 2,4-D+kinetin and concentration of the plant hormones were $1000{\mu}M$ and $0.1\;{\mu}M$ respectively. As a result of these experiment the following conclusion has been obtained. Media contained with 2,4-D+kinetin in $10{\mu}M$ concentration was very effective in the suspension culture result from 26.4% mitosis frequency, and found the various variation of chromosome number. Variety of chromosome number was diversed ($9\sim110$), espicially frequency of hypohaploid and hyperhaploid cells were very higher than hyperdiploid cells. In this experiments, it is suggested that $10{\mu}M$ 2,4-D+kinetin added with medium in the suspension culture of ginseng callus was effect in the variations of chromosome number.