• Title/Summary/Keyword: Translocation, genetic

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Anti-inflammatory activity of AP-SF, a ginsenoside-enriched fraction, from Korean ginseng

  • Baek, Kwang-Soo;Hong, Yong Deog;Kim, Yong;Sung, Nak Yoon;Yang, Sungjae;Lee, Kyoung Min;Park, Joo Yong;Park, Jun Seong;Rho, Ho Sik;Shin, Song Seok;Cho, Jae Youl
    • Journal of Ginseng Research
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    • v.39 no.2
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    • pp.155-161
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    • 2015
  • Background: Korean ginseng is an ethnopharmacologically valuable herbal plant with various biological properties including anticancer, antiatherosclerosis, antidiabetic, and anti-inflammatory activities. Since there is currently no drug or therapeutic remedy derived from Korean ginseng, we developed a ginsenoside-enriched fraction (AP-SF) for prevention of various inflammatory symptoms. Methods: The anti-inflammatory efficacy of AP-SF was tested under in vitro inflammatory conditions including nitric oxide (NO) production and inflammatory gene expression. The molecular events of inflammatory responses were explored by immunoblot analysis. Results: AP-SF led to a significant suppression of NO production compared with a conventional Korean ginseng saponin fraction, induced by both lipopolysaccharide and zymosan A. Interestingly, AP-SF strongly downregulated the mRNA levels of genes for inducible NO synthase, tumor necrosis factor-${\alpha}$, and cyclooxygenase) without affecting cell viability. In agreement with these observations, AP-SF blocked the nuclear translocation of c-Jun at 2 h and also reduced phosphorylation of p38, c-Jun N-terminal kinase, and TAK-1, all of which are important for c-Jun translocation. Conclusion: Our results suggest that AP-SF inhibits activation of c-Jun-dependent inflammatory events. Thus, AP-SF may be useful as a novel anti-inflammatory remedy.

Clinical and Cytogenetic Analysis of Children with Maternal Chromosomal Balanced Translocation (모체의 염색체 균형전좌를 가진 환아들의 임상적 세포 유전학적 관찰)

  • Lim, Han Hyuk;Jeong, Hee Jeong;Park, Kyung Duk;Kim, Sook Ja
    • Clinical and Experimental Pediatrics
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    • v.48 no.7
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    • pp.701-705
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    • 2005
  • Purpose : Parents' genetic information plays an important role in their children's genetic expression. Human chromosome has 23-paternal chromosomes and 23-maternal chromosomes. Parental chromosomal translocation can induce clinical problems in their children because of imbalance in genetic information. We intent to analyze the cytogenentic and clinical features about children with maternal balanced translocation between chromosome 15 and 18. Methods : We detected by one family's FISH study of chromosome 15. We have evaluated children born to clinically normal parents about peripheral bood analysis, endocrine, metabolic, radiologic study, electroencephalogram and social & intelligence scale. and We analysis their clinical manifestation by hospital records. Results : Patient's father and elder sister are normal clinically and genetically. Her mother's chromosome show balanced translocation, 46, XX, t(15;18)(p11.2;p11.3). One child has 46, XX, der(18) t(15;18)(p11.2;p11.3), mental retardation, growth retardation, speech & social developmental delay, recurrent infection and mild mitochondria dysfunction. Her young brother has 46, XY, der(15) t(15;18) (p11.2;p11.3), mental retardation, aggressive behavior, obesity and speech developmental delay. Conclusion : In this study we observed the children with developmental delay, dysmorphic facial features, mental retardation, growth retardation associated with growth hormone deficiency and aggressive behavior due to unbalanced translocation between chromosome 15 and 18.

The Genetic Studies of Drosophila Population 2. On the frequencies of reciprocal translocation in D. melanogaster irradiated with X-rays (초파리집단의 유전학적 연구 2. X-선조사에 의한 상호 전좌 유발 빈도에 관하여)

  • 강영선;이정수
    • The Korean Journal of Zoology
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    • v.8 no.2
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    • pp.9-14
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    • 1965
  • The frequency of reicprocal translocation damage in males of D. melanogaster irradiated with X-rays was observed in this study. The frequencies were checked at four periods with two days intervals and duration spermatogenesis after irradiation. (1) Modification in the percentage of the reciprocal translocation damage were not obtained at interval after irradiated with 500r and 1500r of X-rays respectively. (2) In two experimental groups irradiated with 50-0r and 1500r of X-rays, the frequencies showing in the spermatogenesis were 0.50%(500r), 3.85%(1500r) in mature sperm, and 1.59%, 8.10% in the spermatocyte. (3) The frequency of reciprocal translocation between the Y and 3 rd chromosomes was the highest, but in accordance with dosage increase that of 2nd and 3rd chromosomes relatively increased from 9.34 % to 30.49% while decreased from 68.75% to 46.80% in the group of the Y and 3 rd chromosomes. (4) It was supposed that these modifications of the frequency were due to heavy damage of the 2nd chromosomes than other chromosomes in accordance with dosage increase. (5) Spontaneous reciprocal translocations involving the Y, 2nd and 3rd chormosomes was 0.23%.

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A Cytogenetic Study of Recurrent Spontaneous Abortion (습관성 유산 환자의 세포유전학적인 연구)

  • Lee, Kyung-Soon;Han, Jung-Ho;Oh, Sun-Kyung;Moon, Shin-Yong
    • Clinical and Experimental Reproductive Medicine
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    • v.26 no.3
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    • pp.475-481
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    • 1999
  • Objective: The purpose of this investigation is to determine the frequency of chromosomal or genetic causes of recurrent spontaneous abortion. Methods: A cytogenetic study was made in of 921 couples for 13 years from January 1984 to December 1997 in which the woman was ascertained to have had two or more spontaneous abortions at our Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University. Results: The overall incidence of chromosome anomaly was 80 out of 921 (8.7%). There were 34 cases (3.69%) of reciprocal balanced translocation and 13 cases (1.41%) of Robertsonian translocation. Also 17 cases (1.85%) of inversion and 5 cases (0.54%) of X chromosome mosiacism was observed. In the case of reciprocal balanced translocation, chromosome 8,6,7,13 were preferentially involved over others. And in the case of Robertsonian translocation, chromosome 13 was preferentially involved. Conclusion: Our study demonstrates that cytogenetic analysis is indicated in couples with 2 or more spontaneous abortion and about half of these disorders are reciprocal balanced or Robertsonian translocations.

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Growth Simulation of Ilpumbyeo under Korean Environment Using ORYZA2000: I. Estimation of Genetic Coefficients

  • Lee Chung-Kuen;Shin Jae-Hoon;Shin Jin-Chul;Kim Duk-Su;Choi Kyung-Jin
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2004.04a
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    • pp.100-101
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    • 2004
  • [ $\bigcirc$ ] In the growth simulation using genetic coefficients calculated with fooled data under various condition, WAGT was not higher and LAI, WLVG, WSO were higher, but WST was similar before grain-filling stage after the became lower because of higher translocation of carbohydrates than in the growth simulation using genetic coefficients calculated with data under high nitrogen applicated condition. $\bigcirc$ Genetic coefficients should be calculated with data showing potential in ORYZA2000, but under 180 kg and 240 kg N condition in 2003, plants were infected by panicle blast and also yield was not higher than under 120 kg N condition showing not potential condition and therefore not appropriate for genetic coefficients estimation compared with pooled data from various condition.

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Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus

  • Lee, Dongsook;Park, Heeju;Kwak, Sanha;Lee, Soomin;Go, Sanghee;Park, Sohyun;Jo, Sukyung;Kim, Kichul;Lee, Seunggwan;Hwang, Doyeong
    • Journal of Genetic Medicine
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    • v.13 no.2
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    • pp.95-98
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    • 2016
  • We report the prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus. Cytogenetic analysis of parental chromosomes revealed that the mother had a normal 46,XX karyotype, whereas the father exhibited a 46,XY,der(15)t(Y;15) karyotype. We performed cytogenetic analysis of the father's family as a result of the father and confirmed the same karyotype in his mother and brother. Fluorescence in situ hybridization and quantitative fluorescent-polymerase chain reaction analysis identified the breakpoint and demonstrated the absence of the SRY gene in female members. Thus, the proband inherited this translocation from the father and grandmother. This makes the prediction of the fetal phenotype possible through assessing the grandmother. Therefore, we suggest that conventional cytogenetic and molecular cytogenetic methods, in combination with family history, provide informative results for prenatal diagnosis and prenatal genetic counseling.

Current Status and Future Prospects of Endangered Species Restoration Projects for Freshwater Fishes, Amphibians, and Reptiles in South Korea

  • Yoon, Ju-Duk;Kwon, Kwanik;Yoo, Jeongwoo;Yoo, Nakyung
    • Proceedings of the National Institute of Ecology of the Republic of Korea
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    • v.2 no.4
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    • pp.247-258
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    • 2021
  • To understand restoration and conservation projects conducted in Korea for endangered freshwater fishes and amphibians/reptiles, information about Request for Protocols-related studies on restoration, breeding, and release were collected. Trends of studies were visualized via word clouds and VOSviewer program using a text mining technique. Analysis of restoration projects for endangered freshwater fishes elucidated that most research studies conducted to date were focused on genetics and release through captive breeding that could be classified into captive breeding and habitat environments. As for research projects related to amphibians/reptiles, monitoring projects had the highest number, followed by genetic, translocation, and monitoring studies. In addition, restoration projects for amphibians/reptiles included a large number of post-capture translocation projects. Thus, many projects were confirmed by public institutions rather than by the Ministry of Environment. Network analysis revealed that it was largely classified into capture, translocation, and Kaloula borealis. Based on these results, limitations, achievements, and challenges associated with projects conducted thus far are highlighted. Research directions for future restoration and conservation of endangered freshwater fishes and amphibians/reptiles in South Korea are also suggested.

The frequency of chromosomal abnormalities and the prenatal cytogenetic analyses for couples with recurrent abortions

  • Choi, Soo-Kyung;Park, So-Yeon;Han, Jung-Yeol;Ryu, Hyun-Mee;Jun, Jong-Young
    • Journal of Genetic Medicine
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    • v.2 no.2
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    • pp.59-63
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    • 1998
  • Between 1988-1998, cytogenetic analyses were performed for 1,476 couples and 162 women with recurrent abortions. We applied GTG-banding, high resolution-banding and FISH (fluorescent in situ hybridization) techniques in this study. The frequency of balanced translocations was 3.6% (112/3114). Of them, 74 cases (2.38%) were reciprocal translocations and 38 (1.22%) were robertsonian translocations. Chromosome aberrations were more frequent in women (80 cases) than in men (32 cases). No phenotypical abnormalities were found in all carriers who had experienced recurrent spontaneous abortions or experienced giving birth to malformed offsprings. Prenatal cytogenetic analyses were carried out on 40 subsequent pregnancies for carrier couples with balanced translocation. The fetal karyotypes showed that 13 cases (32.5%) were normal, 25 (62.5%) were balanced translocations, and two (6%) were unbalanced translocations. It is believed that the frequency of chromosomal abnormalities in patients with recurrent spontaneous abortion is higher than that of the normal population. Most of the fetal samples showed normal karyotypes or balanced translocations matching that of one of their parents. Although the incidence of chromosomal imbalance in the fetuses was relatively low in prenatal cytogenetic analysis, individuals with balanced translocations are predisposed to giving birth to malformed offsprings with partial trisomy or monosomy. Therefore, we recommend the cytogenetic and the prenatal cytogenetic analysis for those who experiences recurrent abortion as well as in case they become pregnant, to prevent the birth of offsprings with chromosomal abnormalities.

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Molecular cloning and sequence and 3D models analysis of the Sec61α subunit of protein translocation complex from Penicillium ochrochloron

  • Azad, Abul Kalam;Jahan, Md. Asraful;Hasan, Md. Mahbub;Ishikawa, Takahiro;Sawa, Yoshihiro;Shibata, Hitoshi
    • BMB Reports
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    • v.44 no.11
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    • pp.719-724
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    • 2011
  • The $Sec61{\alpha}$ subunit is the core subunit of the protein conducting channel which is required for protein translocation in eukaryotes and prokaryotes. In this study, we cloned a $Sec61{\alpha}$ subunit from Penicillium ochrochloron ($PoSec61{\alpha}$). Sequence and 3D structural model analysis showed that $PoSec61{\alpha}$ conserved the typical characteristics of eukaryotic and prokaryotic $Sec61{\alpha}$ subunit homologues. The pore ring known as the constriction point of the channel is formed by seven hydrophobic amino acids. Two methionine residues from transmembrane ${\alpha}$-helice 7 (TM7) contribute to the pore ring formation and projected notably to the pore area and narrowed the pore compared with the superposed residues at the corresponding positions in the crystal structures or the 3D models of the $Sec61{\alpha}$ subunit homologues in archaea or other eukaryotes, respectively. Results reported herein indicate that the pore ring residues differ among $Sec61{\alpha}$ subunit homologues and two hydrophobic residues in the TM7 contribute to the pore ring formation.

Case of Prenatally Diagnosed, 3 Successive Familial Partial Trisomy 4p nd 4/22 Translocation of Maternal Origin (산전 유전 검사로 진단된 3회 연속적인 모계 기원의 가족성 partial trisomy 4p와 4/22 전좌 이상(translocation) 예)

  • Yang, Y.H.;Kim, G.S.;Kim, S.K.;Kim, I.K.;Min, H.W.;Song, C.H.
    • Clinical and Experimental Reproductive Medicine
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    • v.21 no.1
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    • pp.131-135
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    • 1994
  • A 27-year-old pregnant woman who had one son with mental and growh retardation and dysmorphic features, was referred for genetic counselling. Cytogenetic investigations revealed 4/22 translocation in the mother(46, XX, t(4;22)(p14;P11)), partial trisomy 4p in son(46, XY, -22, +der(22), t(4;22)(p14;p11)mat). The father had normal karyotype. Amniocentesis and chorionic villi sampling were performed in 3 successive pregnancies. The karyotypes of fetus in 3rd, 4th pregnancies by amniocentesis were 46, XX, t(4;22)(p14;p11) and 46, XX, t(4;22) (p14;p11), and the karyotype of fetus in 5th pregnancy by chorionic villi sampling was found to be 46, XX, -22, +der(22) t(4;22)(p14;p11)mat. We report 3 succesive prenatally diagnosed familial partial trisomy 4p and 4/22 translocation of maternal origin with review of literature.

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