• Title/Summary/Keyword: 핵형 분석

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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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Phylogeny and Conservation of the Genus Bupleurum in Northeast Asia with Special Reference to B. latissimum, Endemic to Ulleung Island in Korea (울릉도 고유종인 섬시호를 중심으로 동북아시아 시호속 식물의 계통과 보전생물학)

  • Ahn, Jin-Kab;Lee, Hee-Cheon;Kim, Chul-Hwan;Lim, Dong-Ok;Sun, Byooog-Yoon
    • Korean Journal of Environment and Ecology
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    • v.22 no.1
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    • pp.18-34
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    • 2008
  • Based on external morphology, each of five species can be classified into three groups: 1) B. falcatum group (B. falcatum, B. scorzonerifolium), 2) B. euphorbioides group (B. euphorbioides) and 3) B. longiradiatum group (B. longiradiatum, B. latissimum). B. falcatum group has cauline leaves linear or lanceolate in shape and attenuate at base and not surrounding the stem. In contrast, B. longiradiatum group and B. euphorbioides group have cauline leaves ovate, lanceolate or panduriform in shape and auriculate or cordate at base and completely surrounding the stem. The inflorescence is basically compound umbels terminated at the apex of stem. But B. euphorbioides group is small in size and pedicels are rather short and the number of the pedicel is ca. 20. On the other hand, B. longiradiatum and B. falcatum groups are large in size and their pedicels are long and the number of the pedicel is around 10. The pore of pollen aperture of B. longiradiatum and B. latissimum is partially projected or not while those of B. falcatum group and B. euphorbioides is usually remarkably projected. The number of somatic chromosomes was counted as 2n=20 in B. falcatum, 2n=12 in B. scorzonerifolium and B. longiradiatum, and 2n=16 in B. euphorbioides and B. latissimum. Although chromosome numbers of B. euphorbioides and B. latissimum are the same, the two species are not likely to relate because the karyotypes of the two species are different from each other. Based on these observations, it can be concluded that B. latissimum is most closely related to B. longiradiatum. However, molecular data indicated that the species is probably related to B. bicaule distributed in central Siberia. In terms of conservation of B. latissimum, overexploitation by human and grazing by goat are most threatened factors.

Noninvasive Prenatal Diagnosis using Cell-Free Fetal DNA in Maternal Plasma: Clinical Applications

  • Yang, Young-Ho;Han, Sung-Hee;Lee, Kyoung-Ryul
    • Journal of Genetic Medicine
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    • v.8 no.1
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    • pp.1-16
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    • 2011
  • Owing to the risk of fetal loss associated with prenatal diagnostic procedures (amniocentesis, chorionic villus sampling), noninvasive prenatal diagnosis (NIPD) is ultimate goal of prenatal diagnosis. The discovery of circulating cell-free fetal DNA (cffDNA) in maternal plasma in 1997 has opened up new probabilities for NIPD by Dr. Lo et al. The last decade has seen great development in NIPD. Fetal sex and fetal RhD status determination by cffDNA analysis is already in clinical use in certain countries. For routine use, this test is limited by the amount of cell-free maternal DNA in blood sample, the lack of universal fetal markers, and appropriate reference materials. To improve the accuracy of detection of fetal specific sequences in maternal plasma, internal positive controls to confirm to presence of fetal DNA should be analyzed. We have developed strategies for noninvasive determination of fetal gender, and fetal RhD genotyping using cffDNA in maternal plasma, using real-time quantitative polymerase chain reaction (RT-PCR) including RASSF1A epigenetic fetal DNA marker (gender-independent) as internal positive controls, which is to be first successful study of this kind in Korea. In our study, accurate detection of fetal gender through gestational age, and fetal RhD genotyping in RhD-negative pregnant women was achieved. In this assay, we show that the assay is sensitive, easy, fast, and reliable. These developments improve the reliability of the applications of circulating fetal DNA when used in clinical practice to manage sex-linked disorders (e.g., hemophilia, Duchenne muscular dystrophy), congenital adrenal hyperplasia (CAH), RhD incompatibility, and the other noninvasive pregnant diagnostic tests on the coming soon. The study was the first successful case in Korea using cffDNA in maternal plasma, which has created a new avenue for clinical applications of NIPD.

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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Ultrastructural Study on the Parenchymal Cell of Korean Planaria (Dugesia japonica) (한국산 플라나리아(Dugesia japonica Ichikawa et Kawakatsu) 유조직의 미세구조에 관한 연구)

  • 장남섭
    • The Korean Journal of Zoology
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    • v.30 no.1
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    • pp.53-70
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    • 1987
  • The morphological study on the parenchymal cells in the adult planaria performed to observe their cytochemical and ultrastructural characteristics. The results are as follows. Nine types of cells are found in parenchyma. 1. Free parenchymal cell: These cells contain several chromatoid bodies around the nucleus. Heterochromatins are evenly dispersed in large nucleus. These cells are abundant in free ribosomes. 2. Fixed parenchymal cells: These cells have well-developed granular endoplasmic reticulum, mitochondria and Golgi complex but they contain the cytosols exhibiting electron-lucencies. 3. Rhabdite-forming cells: These cells contain the electron-dense rhabdite granules of up to about 0.3 x 0.9 $\mu$m in size. Rhabdite-forming cells have well-developed cell organelles, granular endolplasmic reticulum, mitochondria and Golgy complex. 4. A-type of basophilic granule cells: These cells contain irregularly-shaped granules exhibiting alcianophilia. These granules surrounded by a limited membrane, approximately 1.4 x 0.7 $\mu$m in size, are accumulated in the cytoplasm. 5. C-type of basophilic granule cells: These cells contain electron-dense granules of less than 0.2 $\mu$m in size, which exhibit PAS- positive reaction. This type of granule is also found in the muscle layer of parenchyma. 6. D-type of basophilic granule cells: This type of granule cell occurs only in the parenchyma around reproductive organ. The granules have cytochemical characteristics that they exhibit strongly positive reaction with PAS and weakly eosinophilic property. These electron-dense granules, which are 0.2 to 0.6 $\mu$m in length, have oval shapes. 7. E-type of basophilic granule cells: These cells are found only in the parenchyma around re productive organ. The granules contained in a small number in the cell, exhibit PAS-positive reaction and have an average size of 0. 2pm. 8. Eosinophilic granule cells: These cells contain a large number of eosinophilic granules which have relatively diverse sizes from 0.3 x 0.2 to 0.8 x 0.4 $\mu$m. Most of granules are round or irregularly-shaped and highly electrondense. These cells have an array of well-developed granular endoplasmic reticulum of which cisternae are distened. 9. Transparent granule cells contain electron-lucent granules which exhibit negative reactions with three kinds of cytochemical methods used in this experiment.

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Germ Cell Differentiations during Spermatogenesis and Ultrastructural Characteristics of Mature Sperms in Male Protothaca (Notochione) jedoensis (Bivalvia: Veneridae) (수컷 살조개, Protothaca (Notochione) jedoensis (Bivalvia: Veneridae)의 정자형성과정 중 생식세포 분화와 성숙정자의 미세구조적 특징)

  • Kim, Jin-Hee;Park, Young-Jae;Lee, Ki-Young;Choi, Moon-Sul;Seo, Won-Jae;Chung, Ee-Yung
    • Development and Reproduction
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    • v.14 no.4
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    • pp.269-279
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    • 2010
  • Some characteristics of germ cell differntiations and the function of accessory cells during spermatogenesis, and mature sperm ultrastructure in male Protothaca (N.) jedoensis were investigated by transmission electron microscope observations. The morphology of the spermatozoa of this species has a primitive type and is similar to those of other species in the subclass Heterodonta. Accessory cells, which are connected to adjacent germ cells, are involved in the supplying of the nutrients for germ cell development. The morphologies of the sperm nucleus and the acrosome of this species are the cylindrical type and cap shape, respectively. Spermatozoa are approximately $46{\sim}50{\mu}m$ in length including a long sperm nucleus (about $2.44{\mu}m$ in length), an acrosome (about $0.45{\mu}m$ in length), and tail flagellum (about $42{\sim}46{\mu}m$). The axoneme of the sperm tail shows a 9+2 structure. As some characteristics of the acrosomal vesicle structures, the basal and lateral parts of basal rings show electron opaque part (region), while the anterior apex part of the acrosomal vesicle shows electron lucent part (region). These characteristics of the acrosomal vesicle were found in the family Veneridae and other several families in the subclass Heterodonta. These common characteristics of the acrosomal vesicle in the subclass Heterodonta can be used for phylogenetic and systematic analysis as a taxonomic key or a significant tool. The number of mitochondria in the midpiece of the sperm of this species are four, as one of common characteristics appear in most species in the family Veneridae and other families in the subclass Heterodonta. However, exceptionally, only three species in Veneridae of the subclass Heterodonta contain 5 mitochondria. The number of mitochondria in the sperm midpiece can be used for the taxonomic analysis of the family or superfamily levels as a systematic key or an important tool.

The Genetic Variation of Pinus densiflora and Pinus thunbergii by Giemsa C-banding (소나무 및 곰솔의 염색체(染色體) C-분염(分染)에 의한 유전변이(遺傳變異))

  • Park, Sang Jun;Son, Doo Sik
    • Journal of Korean Society of Forest Science
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    • v.80 no.4
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    • pp.383-392
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    • 1991
  • The genetic variation of Pinus densiflora and Pinus thunbergii by Giemsa C-banding was investigated and the results were as follows : 1. From Karyotype analysis of P. densiflora and P. thunbergii by Giemsa C-banding, somatic chromosome numbers of both species were 2n=24. 2. Chromosome of P. densiflora was M-type in arm ratio and they were no variation among individuals but variation in number and position of the secondary constriction and telomere banding among individuals. 3. P. thunbergii showed also M-type in arm ratio of chromosome, however, there was no variation in both number and position of the secondary constriction among individuals. 4. From chromosome C-banding, bands were appeared in the position of centromere and the secondary constriction in both P. densiflora and P. thunbergii. 5. In P. densiflora, the bands were shown on the secondary-constriction in chromosome No. 3, 4 and 7 of all individuals and the bands of the secondary constriction in chromosome No. 1, 2 and 5 showed variation among individuals. In chromosome No. 9, 10 and 11, the bands were shown in telomere and showed variation among individuals. 6. In P. thunbergii, the bands were shown on the secondary constriction in chromosome No. 2, 3, 7 and 8, and were shown no variation among individuals. There was no band on telomere. 7. The genetic variation by C-banding were shown in P. densiflora among individuals but no in P. thunbergii, and were shown on the secondary constriction in chromosome No. 4 of Pinus densiflora and in clnromosome No. 8 of Pinus thunbergii. These are the difference between the two species by C-banding.

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The Studies on In Vivo Embryo Production using Sex-Sorted Sperm in Korean Brindle Cattle (성 감별 정자를 이용한 칡소 체내수정란 생산에 관한 연구)

  • Jeon, Hyang-A;Moon, Seung-Ju;Lee, Ji-Woong;Kang, Man-Jong;Sohn, Sea-Hwan;Kim, Nam-Tae;Ko, Yeoung-Gyu;Kim, Sung-Woo;Kim, Dong-Kyo;Seong, Hwan-Hoo;Cho, Young Moo;Choe, Changyong
    • Journal of Embryo Transfer
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    • v.31 no.1
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    • pp.47-52
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    • 2016
  • The objective of this study was to investigate the result of in vivo embryo collection and pregnancy rate after embryo transfer using sex-sorted sperm of Korean brindle cattle. Donor Korean brindle cattle superovulation treated by decreasing dose of FSH injection. Embryos were recovered on 7 days after the third artificial insemination. Control group semen straw used artificial insemination contained 20 million sperm. Sex-sorted semen straws contained 4 million sperm or 10 million sperm. As for the result of the recovery of the in vivo embryos derived from sex-sorted sperm, the number of transferable embryos was significantly highly recovered to be $6.20{\pm}2.28/donor$ from the control group and was significantly lowly recovered to be $1.57{\pm}1.72/donor$ from the group treated at a sperm concentration of $10{\times}10^6$ (p<0.05). The number of unfertilized embryo was $0.8{\pm}1.30/donor$ in control group which was significantly lower than the group treated at a sperm concentration of $4{\times}10^6$ (p<0.05). However, there was no significant difference in the number of undeveloped ova between control and treatment groups. Pregnancy rate after embryo transfer was shown to be 35.00% in control group and 12.50% in treatment group. The karyotype analysis of the calf derived from sex-sorted sperm resulted in a similar chromosomal distribution pattern (2n=60, XX) compared to those of common Korean native cattle.