• Title/Summary/Keyword: X 염색체

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Ankylosing spondylitis associated with balanced reciprocal X-1 translocation (X염색체와 1번 염색체간 균형전위와 동반된 강직척추염)

  • Kim, Young Hoon;Lee, Jung Ouk
    • Journal of Yeungnam Medical Science
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    • v.34 no.1
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    • pp.80-83
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    • 2017
  • A number of research papers have reported more frequent occurrence of rheumatic/autoimmune disease among patients with hypogonadism or a chromosomal anomaly with potential X-chromosome defects. A 30-year-old female patient came to the hospital with a main cause of bilateral buttock pain, which began two years ago and worsened seven days ago. Ankylosing spondylitis with invasion of both sacral-iliac joints was observed. On magnetic resonance imaging, although the uterus was observed normally, an ovary was not observed. In a chromosome test, balanced reciprocal X-1 translocation of 46,X,t(X;1)(p10;q10) was diagnosed. Here, we report on the first case involving ankylosing spondylitis accompanied by balanced reciprocal X-1 translocation.

The Study on Scattering of Chromosomes in Cells -Scattering of Chromsomes by Treatment with Potassium Ferricyanide Solution under Light- (세포내 염색체의 분산에 관한 연구 -적혈염용액의 광조사 처리에 의한 염색체의 분산-)

  • 김종호
    • Journal of Plant Biology
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    • v.17 no.3
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    • pp.113-117
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    • 1974
  • In counting chromosome number and karyotype study, it is necessary to let chromosomes on metaphase by pretreatment before fixation. For this purpose, colchicine, or 8-oxyquinoline are generally used. The author found out that chromosomes could be scattered by illuminating cyanoferrate complex solution in which root-tips were sunk. As materials, 8 sorts of plant such as Allium fisturosum, allium tuberosum Rottler, Triticum vulgare were used. Their root-tips were sunk on the bottom of beaker in potassium ferricyanide solution $3{\times}10-4M$ and illuminated through the solution by sterilizing lamp for 1~2 hours in dark room, keeping 10 cm distance from light source to the surface of solution and 2cm depth of solution. Then again, they were illuminated to the light which was somewhat weaker intensity than the former (distance, 16cm; depth, 3cm) for 1.5~2 hours after immersed in 1/100N-HCl and washed in water for each 5minutes. By such methods chromosomes could be scattered. About the mechanism of scattering, it is supposed that CN and Fe(CN)x ions $(x {\leq}5)$ which were gradually produced in the process of photodissociation acted together on the scattering of chromosomes.

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Determination of the Temperature-Dependent Index of Mitotic Interval (${\tau}_o$) for Chromosome Manipulation in Far Eastern Catfish Silurus asotus (메기 Silurus asotus 염색체조작을 위한 온도 의존적 체세포분열 간격지수 결정)

  • Park, In-Seok;Im, Jae-Hyun
    • Korean Journal of Ichthyology
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    • v.13 no.1
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    • pp.85-88
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    • 2001
  • Temperature-related cleavage rates and mitotic intervals (${\tau}_o$) in the far eastern catfish Silurus asotus were studied by averaging the duration of the second and third embryonic divisions to establish effective procedures for chromosome manipulations. At higher temperatures eggs developed faster and underwent more asynchronous development. Mitotic intervals for far eastern catfish were $21.5{\pm}1.4$ min at $22^{\circ}C$, $18.5{\pm}1.2$ min at $24^{\circ}C$, and $14.0{\pm}2.1$ min at $26^{\circ}C$. There was a strong negative correlation between ${\tau}_o$ and water temperature (Y=-1.85X+21.9, $R^2=0.9868$, where Y is ${\tau}_o$ and X is temperature).

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PSYCHIATRIC CHARACTERISTICS OF CHILD PATIENTS WITH INVERSION OF CHROMOSOME 9 - A PRELIMINARY STUDY - (9번 염색체 전위를 지닌 환아들의 정신과적 특성 - 예비적 연구 -)

  • Lee, Jun-Young;Hwang, Jun-Won;Hong, Kang-E;Kim, Jae-Won
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.12 no.1
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    • pp.71-78
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    • 2001
  • Objectives:Few studies have examined the psychiatric properties or child developmental problems associated with inversion of chromosome 9. The purpose of this study is to examine the psychiatric properties of child patients who have inversion of chromosome 9, focused on behavioral problems and child developmental problems like motor or language developmental delay, intellectual impairment, and growth retardation. Methods:1) The authors examined the cases referred for cytogenetic examination from 1984 to 2000 at Seoul National University Hospital in Korea. The cases with the examination result of inversion of chromosome 9 were collected and informations about the departments which referred and the main reasons for referral were also checked. 2) 12 child subjects with inversion of chromosome 9 and their parents underwent psychiatric interview and parent questionnaire(child and adolescent past history questionnare, CBCL). 45 normal students whose sex and age were matched to patients were selected as a control group. Results:1) There were 165 cases of inversion of chromosome 9. The major departments which referred were Obstetrics and Gynecology(47.3%), Pediatrics(23.6%) and Child and Adolescent Psychiatry(17.0%). The major reasons for referral from the Pediatrics and the Child and Adolescent Psychiatry department (67 cases total) were intellectual impairment(35.8%), language or motor developmental delay(31.3%), suspected Fragile X syndrome(23.9%), and growth retardation(20.9%). 2) Compared to normal control group, the rate to be included in the clinical range with regard to the social problems profile was higher in patient group according to the CBCL results. The patient group had language and motor developmental delay. Conclusion:There is a possibility of inversion of chromosome 9 to be associated with child developmental problems or behavioral problems. This study is the first approach to evaluate the developmental aspects associated with inversion of chromosome 9.

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Studies on X-Y Chromosome Dissociation Induced by Environmental Mutagens in Mouse (환경성 돌연변이원에 의한 Mouse의 X-Y 염색체 조기분리에 관한 연구)

  • 윤경희;이원호
    • Journal of Environmental Science International
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    • v.7 no.5
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    • pp.599-605
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    • 1998
  • The purpose of this work was to examine whether X-Y chromosome dissociation in the primary spermatocytes of mice could be used as an in vivo short-term assaying system that detect environmental mutagens. Four alkylating agents(EMS, MMS, MMC and MNNG) which were known as strong mutagens were administered to BALB/c male mice 3-4 months old. In the control group, the mean frequencies of previously dissociated X and Y chromosomes and autosomes were 7.17% and 2.12%, respectively. Compared to the control group, mutagen-treated groups have no significant differences in dissociation rate of autosomes, while these poops were about 1.2-2.5 times higher in the frequencies of X-Y dissociation. Generally, X-Y dissociation frequency increased consistently with the concentration of mutagens whereas the tendency of autosome dissociation frequency was variable among several mutagens. These results suggest that X-Y dissociation in the primary spermatocytes of mice is applicable as an vivo short-term assaying system for environmental mutagens. There were significantly distinct increase in dissociation of X-Y chromosome in both the hybrid and parents but the X-Y previous dissociation of hybrid appeared higher frequency than BALB /c and wild mice. These results indicate that the factor related to binding X-Y chromosome is specific to strains.

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The Sister Chromatid Exchange Frequencies and Chromosome Aberrations in Mouse Lymphocyte by X-Ray Irradiation (X-선 조사에 의한 마우스 淋巴球의 SCE 경도와 염색체이상)

  • 황인담;기노석;이정상;김남송;이재형;이준배
    • Journal of Environmental Health Sciences
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    • v.16 no.1
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    • pp.55-65
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    • 1990
  • This study was carried out to investigate the effects on sister chromatid exchanges (SCEs) and chromosome aberrations in PHA or LPS stimulated mouse spleen and bone marrow lymphocytes after an acute whole body irradiation. Frequencies of sister chromatid exchanges were significantly increased with the increased dose(from zero to 400tad) but there was no differences between B-cell and T-cell. By times, the maximum induced SCE levels was observed at 12 hours after irradiation and then returned to base level at one day in 100rad group and three day in 400rad group. There was a significant difference in chromosome aberration with increasing exposure. X-ray irradiated chromosome aberration was long lived relative to SCE. This results show that counting the incidence of SCE may not provide a sensitive system for detecting X-ray exposure.

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Composition of Serum Protein in Korean Fragile X Syndrome Patients (한국인 Fragile X 환자들의 혈청단백질 구성)

  • 김종봉
    • Biomedical Science Letters
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    • v.2 no.1
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    • pp.127-132
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    • 1996
  • The karyotype and the concentration of serum protein were investigated in Korean unclassified mental retardees. The results were as follows. Fragile X chromosomes were identified in three patients, and the frequencies of fragile X chromosome were 4~15%. The concentration of serum protein was 5.73$\pm$0.89(g/dl), and the A/G ratio was 0.86$\pm$0.14 in fragile X syndrome patients. The concentration of serum protein was 6.83 $\pm$0.72(g/dl), and the A/G ratio was 0.87$\pm$0.17 unclassified mental retardees. The results revealed that the level of globulin concentration and A/G ratio in fragile X syndrome patients and unclassified mental retardees were lower than in normal group and Down's patients.

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Chromosome Redundancy and Tree Phenotype Variation in Autotetraploid Trifoliate Orange (동질 사배체 탱자에서 염색체 배가와 수체 표현형의 변이)

  • Oh, Eun Ui;Chae, Chi-Won;Kim, Sat-Byul;Lu, Jian Liang;Yun, Su-Hyun;Koh, Sang-Wook;Song, Kwan Jeong
    • Horticultural Science & Technology
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    • v.32 no.3
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    • pp.366-374
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    • 2014
  • The study was conducted to investigate the possibility that epigenetic DNA methylation causes tree phenotypic variation in autotetraploids through evaluating the phenotypic variation and DNA methylation in autotetraploids occurred spontaneously from diploid trifoliate orange. Chromosome analysis confirmed that fourteen trifoliate orange trees of selected by flow cytometry were tetraploids (2n = 4X = 36) without any aneuploids. Chromomycin A3 staining determined that these trees were all autotetraploid with doubled chromosome set. Tree phenotypes, such as tree height and width, branching number, length, and angle, internode length, and leaf characteristics, varied in the autotetraploids. Chlorophyll indices were diverse in the autotetraploids, but photosynthetic rates were not significantly different. In addition, a wide range of variation was observed in stomatal density and guard cell length. Analysis of global cytosine DNA methylation showed that there was a variation of the methylation level in autotetraploids. More than half of 14 autotetraploids had at least 2 times higher methylation level than diploid trifoliate orange. The results indicate that tree phenotypic variation in autotetraploids might be related to global DNA methylation for reducing gene redundancy.

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.

Clinical disease characteristics according to karyotype in Turner syndrome (터너증후군에서 핵형에 따른 임상질환의 발병양상)

  • Yeo, Chae Young;Kim, Chan Jong;Woo, Young Jong;Lee, Dae Yeol;Kim, Min Sun;Kim, Eun Young;Kim, Jong Duck
    • Clinical and Experimental Pediatrics
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    • v.53 no.2
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    • pp.158-162
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    • 2010
  • Purpose : Turner syndrome (TS) is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype. Methods : We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals from Jan 1998 to Dec 2007. We evaluated these cases by prepared protocol of 4 medical problems.Results : The distribution of karyotype was 45,X (47.8%), mosaic pattern (34.4%) and structural aberration group (17.8%). Renal anomalies, cardiovascular anomalies, thyroid disorders and auditory problems are accompanied in 4.4%, 10.0 %, 11.1% and 5.6%, respectively. 45,X group had renal anomalies (7.0%), cardiovascular anomalies (18.6%), thyroid disorders (9.3%) and auditory problems (11.6%). Mosaic group had renal anomalies (3.2%), thyroid disorders (12.9%), no cardiovascular anomalies and auditory problems. Structural aberration group had cardiovascular anomalies (6.3%), thyroid disorders (12.5%) and no other 2 problems. Patients with 45,X group had a significant higher incidence of cardiovascular anomalies (P =0.025). Conclusion : Our results indicate that there are differences clinically according to karyotype of TS, especially in incidence of cardiovascular anomalies.