• Title/Summary/Keyword: 핵형분석

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GENETIC STUDY IN AUTSTIC DISORDER - Chromosomal Analysis - (자폐장애 아동의 유전연구 - 염색체 분석 -)

  • Jung, Chul-Ho;Lee, Inn-Hwan
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.2 no.1
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    • pp.66-75
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    • 1991
  • The authors studied chromosomal abnormalities in 38 autistic children meeting the diagnostic criteria of DSM-III-R in order to investigate genere factor in autistic disorder There were 28 males and 10 females, with the mean age being $108.8{\pm}28.5months(70-156months).$ All samples were analyzed on short-term lymphocyre cultures in Medium 199 that contained FUdR. The fragile X chromosome was not found in any of the patients. There were other chromosomal abnormalities in 14(36.8%) of 38 patients, such as breakage, 11cases ; gap, 2case ; breakage and gap, 1 case. In grouping of chromosomal abnormalities, group A patients were 4 cases ; group C were 3 cases ; group A and B was 1 case ; group A and E was 1 case ; group C and E was 1 case ; group A, B and C was 1 case. There were no statistical significance in the 16 symptoms of autistic disorder of DSM-III-R between patients with chromosomal abnormalities and patients without chromosomal abnormalites. These results do not support the hypothesis that fragile X chromosome is an etiological factor in autistic disorder.

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A Case of Short Arm Deletion and Long Arm Duplication at Chromosome 3 (3번 염색체 단완 결실과 장완 중복을 동반한 1례)

  • Kong, Seung Hyun;Seo, Jeong Il;Kang, Jang Hui;Jung, So Young;Mok, Ji Sun
    • Clinical and Experimental Pediatrics
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    • v.48 no.12
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    • pp.1389-1389
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    • 2005
  • The long arm duplication of chromosome 3 was reported for the first time in 1966 by Falek et al., and Hirschhorn et al. came to identify the duplication of 3q21${\rightarrow}$qter region in 1973. In most cases of duplication 3q syndrome patients, pure duplication of 3qter is believed to be rare and is often reported accompanied with deletion of another segment of the chromosome. Approximately 75 percent of parents of the patient in the meantime have been demonstrated to have unbalanced translocations or inversions of the chromosome. Partial deletion of the distal part of the short arm of chromosome 3 was first reported by Verjaal and De Nef in 1978 and terminal deletion of chromosome 3 (3p25-qter) has been observed in most cases. In karyotyping of chromosomes of immature infants showing the manifestations of flat occiputs, low set ears, hypertelorism, broad nasal roots, thin lips, web necks, hypotonia, hypertrichosis skin, cryptorchidism etc, we experienced a case diagnosed as 46,XY, rec(3)dup(3)(q21)del(3)(p25)inv(3)(p25q21).

질화규소 삽입층을 이용한 a면 질화갈륨 박막의 깊은 준위 연구

  • Song, Hu-Yeong;Seo, Ju-Yeong;Lee, Dong-Ho;Kim, Eun-Gyu;Baek, Gwang-Hyeon;Hwang, Seong-Min
    • Proceedings of the Korean Vacuum Society Conference
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    • 2010.08a
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    • pp.230-230
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    • 2010
  • 질화갈륨 기반의 III족-질화물 계열의 반도체 물질은 녹색-자외선 영역의 발광다이오드에 응용되어 왔으며 고효율, 고휘도 발광소자의 구현 및 성능 향상을 위해 많은 연구가 진행되었다. 일반적으로 널리 사용되어온 c축 방향으로 성장된 질화갈륨 기반 발광다이오드에서는 활성층의 에너지 밴드구조가 내부전기장에 의해 변형되어 전자와 정공의 재결합 확률이 저하된다. c축 방향으로 형성되는 내부전기장은 축방향으로의 자발적 분극화와 높은 압전 분극 현상에 기인한다. 이와 같은 분극 성장에서의 내부양자효율 저하 현상을 해결하기 위하여 내부 전기장이 존재하지 않는 a축과 m축과 같은 무분극 방향으로의 성장이 집중적으로 연구되고 있다. 현재 사파이어 기판위에서 무분극 성장된 박막은 높은 밀도의 결함이 발생하여 고품위의 발광다이오드 동작에 어려움을 겪고 있다. 최근 결함 밀도를 낮추고 높은 결정성을 갖는 무분극 질화갈륨 박막을 성장하기 위하여 2-단계 성장 방법, 나노구조층 삽입, 산화규소 마스크 패턴 등 다양한 성장 방법들이 연구되어 주목할 만한 연구 결과들이 보고되고 있다. 다양한 성장 방법들에 의해 성장된 박막들은 고유한 특성들을 보이는데, 특히 박막 성장방법에 따라 박막 내부에 형성되는 깊은 준위의 특성들은 발광다이오드의 소자 특성에도 큰 영향을 미치게 되므로 무분극 박막에서의 깊은 준위에 대한 연구가 필요하다. 본 연구에서는 금속-유기 화학기상증착 방법으로 r면의 사파이어기판 위에 a면의 질화갈륨을 성장시켰다. 고품질의 결정성을 구현하기 위해 저온 핵형성층, 3차원 성장층, 2차원 중간온도 성장층, 2차원 성장층의 4개 버퍼층을 사용하였으며, 질화규소 나노구조층을 삽입함으로써 고품 위의 a면 질화갈륨 박막을 구현하였다. 성장된 a면 질화갈륨 박막에 형성된 깊은 준위들은 접합용량과도분광법을 이용하여 분석되었으며 질화규소 삽입층의 유무에 따른 깊은 준위의 특성 차이에 대한 연구를 수행하였다.

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Image Analysis Algorithms for Comparative Genomic Hybridization (분자 세포 유전학 기법에 응용되는 영상 처리 기술)

  • Kim, De-Sok;Yoo, Jin-Sung;Lee, Jin-Woo;Kim, Jong-Won;Moon, Shin-Yong;Choi, Young-Min
    • Proceedings of the KOSOMBE Conference
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    • v.1998 no.11
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    • pp.66-69
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    • 1998
  • Comparative genomic hybridization (CGH) is an important molecular cytogenetics technique that maps abnormal copy number of specific DNA sequence of the chromosome. CGH is based on quantitative digital image analysis of ratio images from fluorescently labeled chromosomes. In this paper, we would like to introduce how recently developed image analysis algorithms are used for CGH techniques. To average the ratio profile of each chromosome, binarization, skeletonization, and stretching of chromosome images have been studied. Developed algorithms have been implemented in the karyotyping system ChIPS commercially developed at Biomedlab Co. Ltd.

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Cytogenetic Analysis of an Intergeneric Hybrids between Korean Bullhead (Pseudobagrus fulvidraco) and Ussurian Bullhead (Leiocassis ussuriensis) (동자개(Pseudobagrus fulvidraco)와 대농갱이(Leiocassis ussuriensis)간 유도된 잡종의 세포유전학적 분석)

  • Park, Sang-Yong;Kim, Dong-Jun;Lee, Yoon-A;Noh, Choong-Hwan;Kim, Dong-Soo;Bang, In-Chul
    • Korean Journal of Ichthyology
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    • v.18 no.1
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    • pp.20-26
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    • 2006
  • Bagrid catfish hybrid between Korean bullhead (Pseudobagrus fulvidraco) and Ussurian bullhead (Leiocassis ussuriensis) was produced by artificial fertilization. Modal chromosome numbers of Korean bullhead, Ussurian bullhead and their hybrid were the same as 2n=52. The karyotypes were 22 metacentric (M), 22 submetacentacentric (SM), and 8 acrocentric (A) chromosomes for Korean bullhead, 22M+14SM+16A for Ussurian bullhead and 22M+18SM+12A for their hybrid. The hybrid bullhead karyotype consisted of each haploid set of parental species chromosomes. Erythrocytic sizes and DNA contents of hybrids were intermediate between two parental species.

C-banded karyotypes of Allium (Alliaceae) sect. Sacculiferum in Korea (C-banding pattern에 의한 한국산 부추속 산부추절의 핵형 연구)

  • Ko, Eun-Mi;Choi, Hyeok-Jae;Oh, Byoung-Un
    • Korean Journal of Plant Taxonomy
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    • v.39 no.3
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    • pp.220-228
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    • 2009
  • C-banded karyotypes of eight taxa of Korean Allium sect. Sacculiferum were examined by means of Giemsa techniques. Each of the taxa had their own characteristic bands. Most of the bands on the somatic metaphase chromosomes were mainly located on the short arm, intercalary region and medium sized chromosomes. In addition, the heterochromatic bands were usually facultative, recognized as two spots, and all investigated taxa had a pair of satellites of heterochromatin. The similarities of total length and number of bands revealed that three varieties of A. thunbergii G. Don have a closer cytological relationship than the others. The C-banding patterns of A. longistylum and A. linearifolium were examined for the first time in this study, and the former was clearly distinguished from the others by the distribution and number of its bands. The proportion of heterochromatic bands suggested that A. thunbergii var. thunbergii is the most primitive, and A. sacculiferum the most advonced, within the section.

Cytogenetic Analysis of Korean Shinner, Coreoleuciscus splendidus (Cyprinidae) (쉬리, Coreoleuciscus splendidus (Cyprinidae)의 세포유전학적 연구)

  • Kim, Dong-Soo;Song, Ha-Yeun;Bang, In-Chul;Nam, Yoon-Kwon
    • Journal of Aquaculture
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    • v.20 no.2
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    • pp.140-143
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    • 2007
  • Cytogenetic analyses of an endemic species, Coreoleuciscus splendidus (Cyprinidae) was performed including erythrocyte measurement, chromosome count and karyotyping, nucleolar organizing region (NOR) banding and flow cytometric analysis of genome size. C. splendidus had the same modal chromosome number of 2n = 48 between sexes, however, displayed a sex-related dimorphism in their chromosome karyotypes. Males represented a pair of heteromorphic chromosomes which couldn‘t be seen in any female individuals, indicating that the sex determination mechanism of this species should be a typical XX-XY based male heterogamety (female=10M+6SM+8A+XX vs male=10M+6SM+8A+XY). Other cytogenetic features such as Ag-NORs located in a pair of acrocentric chromosomes, estimated nuclear volume ($28{\mu}m^3$) and cellular DNA content (2.4 pg/cell) suggest that genetic recombination might be the main driving force responsible for the evolution of this species rather than the polyploidy-based evolutionary process as in many other Cyprinidae species.

Identification of Chromosomal Band Markers of the Korean Native Chicken (한국재래계의 염색체 분염 표지 분석)

  • Baik, K. H.;Lee, C. Y.;Sang, B. D.;Choi, C. H.;Kim, H. K.;Sohn, S. H.
    • Journal of Animal Science and Technology
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    • v.45 no.1
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    • pp.1-12
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    • 2003
  • The present study was carried out to establish the standard karyotype of the Korean Native Chicken and to find their chromosomal band markers using high-resolution banding technique. Chromosome analysis was performed on early chick embryos following in vitro culture of fertilized eggs of the yellow-brown and the red-brown lines of the Korean Native Chicken which had been established at National Livestock Research Institute. The high-resolution banding of the chromosome was achieved by treating the embryos with ethidium bromide and colchicine during culture. On GTG-banding, the Korean Native Chicken exhibited a typical chick banding pattern in all the macrochromosomes. Overall chromosomal morphology and positions of typical landmarks of the Korean Native Chicken were virtually identical to those of White Leghorn and International System for Standardized Avian Karyotypes(ISSAK). However, the lengths and G-band numbers of the Korean Native Chicken macrochromosomes were greater than those of White Leghorn and ISSAK. Especially in chromosomes 1 and Z, the Korean Native Chicken exhibited more separated bands in compared with ISSAK. In C-banding patterns, although a lot of observed cells had C-band polymorphic patterns, almost the Korean Native Chicken macrochromosomes had heterochromatic C-band on centromeres and/or near terminal part. However, the heterochromatic C-band was constantly observed at the end of q-arm of Z chromosomes and on the whole W chromosome. In addition, the Korean Native Chicken exhibited distinctive heteromorphic patterns of C-bands on the centromere of chromosome 3 and at the end of q-arm of Z chromosome between homologous chromosomes.

Growth Characterization and Cytogenetic Analysis of Three FA Interspecific Hybrid Lilies Bred from Korea (국내 육성 FA종간잡종 나리 3품종의 생육특성 및 세포유전학적 분석)

  • Hwang, Yoon-Jung;Yan, Wang;Kim, Won Hee;Lim, Ki-Byung;Kang, Yun-Im
    • FLOWER RESEARCH JOURNAL
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    • v.26 no.4
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    • pp.195-201
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    • 2018
  • The plant morphological and chromosome characteristics of 'Bonanza', 'Coral Candy' and 'Purple Crystal', a formolongi-Asiatic (FA) interspecific hybrid species bred at the National Institute of Horticultural Science, Rural Development Administration (RDA), were investigated in this study. The flowering time of these species were found to have some variation. 'Bonanza' flowers in the middle to late June (medium-late maturing cultivar), 'Coral Candy' in the mid of June (medium maturing cultivar), and 'Purple Crystal' was observed to be in early June (early maturing cultivar). The flowering direction of all three cultivars are upward facing flowers and having a weak fragrance. The height of the plants was recorded in the range between 101.0 cm ('Purple Crystal') to 142.3 cm ('Bonanza'), thus they are able to develop cut flowers with excellent stem elongation. Flower diameters of 'Bonanza' (17.1 cm) and 'Coral Candy' (16.9 cm) were classified to be large sized flowers. On the other hand, 'Purple Crystal' had a narrow flower diameter (12.3 cm) with an outer petal width of more than 4.0 cm. Leaf length was observed for 'Bonanza' (15.7 cm), 'Coral Candy' (19.7 cm), and 'Purple Crystal' (11.1 cm). Chromosome analysis was done using FISH technique. Results revealed that all three cultivars were observed as triploids (2n=3x=36). FISH analysis also showed 5S/45S rDNA of 'Bonanza', 'Coral Candy' and 'Purple Crystal' as 4/11 loci, 4/12 loci, and 4/11 loci, respectively. The results of the FISH analysis are useful as markers to distinguish cultivars, since the patterns of rDNA observed on the remaining chromosomes are significantly different except FISH patterns of chromosome #3.

Taxonomic Studies of Genus Juniperus (향나무속(屬)의 분류학적(分類學的) 연구(硏究))

  • Kim, Su In
    • Journal of Korean Society of Forest Science
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    • v.77 no.3
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    • pp.338-350
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    • 1988
  • In order to solve the taxonomic problems of the genus Juniperus growing in South Korea, an identification key of the genus and species was developed bayed un flower structure, cane and seed shape, branching habit, tree form, leaf characteristics etc. of the 7 native species and the a exotic cultivars. The typical pattern of karyotype found by chromosome analysis of the species was used for the identification among morphologically similar species. The length of chromosome were ranged $9{\sim}15{\mu}m$ in all studied specie. J. chinensis, var. procumbens, and var. kaizuka sere tetraploid, 4n=44, var. globosa, var. procumbens, var. horizontalis, J. virginiada, J. rigida, J. rigida var. longicarpa, and J. coreana were diploid, 2n=22. The species in the Sabina section showed large variation in the length of chromosome and kinetochore position. The species in the Oxycedrus section showed the cytological characteristics that the 11th chromosome t-type(acrocentric), and the m-type abundant chromosome set was relatively uniform as compared to those of the Sabina section. The species in the Sabina section, which are planted in the large city area, show great morphological variation because many different ecotypes were mixed and often crossed among them. In summary, this study was able to make clear identification and to find out similarity among Juniperus, species by the morphological and cytological analysis.

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