• 제목/요약/키워드: Translocation, genetic

검색결과 74건 처리시간 0.029초

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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    • 제39권2호
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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.

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

  • 임한혁;정희정;박경덕;김숙자
    • Clinical and Experimental Pediatrics
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    • 제48권7호
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    • pp.701-705
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    • 2005
  • 목 적 : 부모에게서 받은 유전정보는 자손의 유전표현에 필수적인 역할을 한다. 만일 어머니나 아버지로부터 받는 유전자가 서로 전좌가 일어날 경우 자손에게 부여되는 유전정보는 충분하지 않거나 필요이상으로 많이 받게 되어 자손에게 임상적 문제점을 일으킬 수가 있다. 임상적으로 정상인 부모로부터 태어나 정신발달이상과 행동발달지연을 보인 한 가족의 세포 유전학적인 연구와 임상 소견들을 관찰하여 원인규명과 앞으로의 예후를 평가할 목적으로 이 연구를 실시하였다. 방 법 : 대상 환아는 충남대학교병원 소아과에 입원한 11세의 여아와 가족의 총 5명으로 하였다. 환자의 병력청취와 이학적 검사, 가족력조사를 시행하였으며 원인을 밝히기 위하여 염색체 분석, FISH, 대사질환 분석, 정신 사회학적 검사인 소아정신과 상담과 치료받은 기록 및 사회성숙도 검사, 심리평가, EEG를 실시하였고, 성장발달검사를 위해 혈액검사와 방사선학적 검사, 내분비 검사를 시행하였다. 결 과 : 염색체 검사는 환아의 아버지와 언니는 정상이었고 환아의 어머니는 임상적으로 정상이었지만, 46, XX. t(15,18)(p11.2;p11.3)을 보였고, 남동생은 복부비만, 과식, 난폭한 행동, 괴성, 주의력 산만, 학습장애, 언어 발달 지연 등의 임상 소견을 보이면서 46, XY der(15) t(15;18)(p11.2;p11.3)이며 환아는 46, XX. der(18) t(15;18)(p11.2;p11.3)로 대사이상 검사상 미토콘드리아 기능 저하를 의심할 수 있는 소견과 내분비 검사상 성장호르몬 결핍소견을 보였고, 운동 및 신경정신과적 발달 검사상 행동발달 지연, 언어발달 지연, 사회성 발달지연 및 중등도의 정신 지체를 보였다. 결 론 : 정상인 아버지와 임상적으로 정상이면서 균형전좌(balanced translocation)인 46, XX. t(15,18)(p11.2;p11.3)를 갖는 어머니로부터 태어난 자녀들이 염색체 15번 장완과 18번 장완의 비균형 전좌(unbalanced translocation)로 인해 이형성(dysmorphogenesis)을 유발하고, 뇌의 전반적인 기능저하, 얼굴 모양의 기형, 성장지연, 면역력의 저하 등 다양한 임상소견을 보임을 알 수 있었다.

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

  • 강영선;이정수
    • 한국동물학회지
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    • 제8권2호
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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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습관성 유산 환자의 세포유전학적인 연구 (A Cytogenetic Study of Recurrent Spontaneous Abortion)

  • 이경순;한정호;오선경;문신용
    • Clinical and Experimental Reproductive Medicine
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    • 제26권3호
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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
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2004년도 춘계 학술대회지
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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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    • 제13권2호
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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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    • 제2권4호
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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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    • 제2권2호
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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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    • 제44권11호
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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.

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

  • 양영호;김경수;김세광;김인규;민혜원;송찬호
    • Clinical and Experimental Reproductive Medicine
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    • 제21권1호
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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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