• 제목/요약/키워드: translocation

검색결과 1,135건 처리시간 0.03초

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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Oxalate Decarboxylase from Agrobacterium tumefaciens C58 is Translocated by a Twin Arginine Translocation System

  • Shen, Yu-Hu;Liu, Rui-Juan;Wang, Hai-Qing
    • Journal of Microbiology and Biotechnology
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    • 제18권7호
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    • pp.1245-1251
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    • 2008
  • Oxalate decarboxylases (OXDCs) (E.C. 4.1.1.2) are enzymes catalyzing the conversion of oxalate to formate and $CO_2$. The OXDCs found in fungi and bacteria belong to a functionally diverse protein superfamily known as the cupins. Fungi-originated OXDCs are secretory enzymes. However, most bacterial OXDCs are localized in the cytosol, and may be involved in energy metabolism. In Agrobacterium tumefaciens C58, a locus for a putative oxalate decarboxylase is present. In the study reported here, an enzyme was overexpressed in Escherichia coli and showed oxalate decarboxylase activity. Computational analysis revealed the A. tumefaciens C58 OXDC contains a signal peptide mediating translocation of the enzyme into the periplasm that was supported by expression of signal-peptideless and full-length versions of the enzyme in A. tumefaciens C58. Further site-directed mutagenesis experiment demonstrated that the A. tumefaciens C58 OXDC is most likely translocated by a twin-arginine translocation (TAT) system.

Impacts of Host Immunization on the Translocation of Intestinal Bacteria and Growth Performance in Weanling Piglets

  • Moon, H.K.;Hanz, In K.;Gentry, J.L.;Parmentier, H.K.;Schrama, J.W.
    • Asian-Australasian Journal of Animal Sciences
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    • 제12권2호
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    • pp.180-185
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    • 1999
  • Effects of host immunization on bacterial translocation and growth performance in weanling piglets were studied. Twenty four barrows were assigned to one of two immunization treatments: Control group (CON: immunized with placebo) or Immunization group [IMMU: immunized with Antigen cocktail; Keyhole limpet hemocyanin (KLH), Ovalbumin (OA), and Tetanus toxoid (TT)]. On d0, piglets were weaned and intramuscularly immunized with 2 ml of placebo or Antigen cocktail, respectively. Antigen-specific Ig titers were determined by ELISA (Enzyme Linked ImmunoSorbent Assay). Ig titers to E. coli-derived lipopolysaccharides (LPS) were measured as the indicator of bacterial translocation. Ig titers to LPS were higher (p<0.10, 0.05 or 0.01) in CON group before immunization (d0), but the difference disappeared with time and IgA titers to LPS became higher (p<0.05) in IMMU group on d39. In IMMU group, IgG titers to LPS from d28 onwards showed positive correlations (p<0.10, 0.05, 0.01 or 0.001) with IgG titers to KLH from d11 onwards and with IgM titers to KLH from d7 onwards. Generally, growth performance was negatively related to IgG titers to LPS. Average daily gain for d28 to d35 showed negative correlations (p<0.10, 0.05, or 0.01) with IgG titers to LPS on d28 onwards in immunization group. These results reveal some evidences that host immunization might facilitate bacterial translocation and high humoral immune responses to LPS are negatively related with the growth performance.

수도(水稻)와 너도방동사니에서 Bensulfuron의 흡수(吸收), 이행(移行) 및 대사(代謝) (Absorption, Translocation and Metabolism of Bensulfuron in Rice and Cyperus serotinus Rottb.)

  • 권채순;변종영
    • 한국잡초학회지
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    • 제13권2호
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    • pp.75-80
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    • 1993
  • 수도(水稻)와 너도방동사니간의 Bensulfuron 선택성(選擇性) 기작(機作)을 밝히고자 $^{14}C$-bensulfuron을 공시(供試)하여 식물체(植物體)간 Bensulfuron의 흡수(吸收), 移行(이행) 및 대사(代謝)를 연구(硏究)하였다. 1. Bensulfuron 흡수량(吸收量)은 줄기보다 뿌리에서 월등히 많았으며 너도방동사니보다 수도(水稻)에서 현저하게 높았다. 2. 뿌리로 부터 줄기로의 Bensulfuron 이행속도(移行速度)는 수도(水稻)보다 너도방동사니에서 빨랐으며 이행량(移行量)도 많았다. 3. Bensulfuron의 대사속도(代謝速度)는 수도(水稻)에서는 현저하게 빨랐으나 너도방동사니에서는 매우 느린 경향이었다. 4. 따라서 수도(水稻)의 내성(耐性)은 빠른 대사속도(代謝速度)에 주로 기인(基因)하며 부분적으로 느린 이행속도(移行速度)와도 관련이 있으며 너도방동사니의 감수성(感受性)은 느린 대사속도(代謝速度)와 빠른 이행속도(移行速度)와 관련이 있을 것으로 사료(思料)되었다.

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벼와 피에서 Dithiopyr의 흡수(吸收) 및 이행(移行)과 선택성(選擇性) 기작(機作) (Absorption and Translocation of Dithiopyr and its Mechanism of Selectivity in Rice and Barnyardgrass)

  • 변종영;강광식;양환승
    • 한국잡초학회지
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    • 제14권1호
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    • pp.23-27
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    • 1994
  • 피리딘계(系) 제초제(除草劑) Dithiopyr의 벼와 피에 대한 선택성(選擇性)을 발아(發芽) 및 수경재배(水耕栽培) 실험(實驗)을 통하여 검정(檢定)하였으며 선택성(選擇性) 기작(機作)을 밝히고자 벼와 피에서 $^{14}C$-dithiopyr의 흡수(吸收) 및 이행(移行)을 조사(調査)하였다. 1. 벼는 피보다 Dithiopyr에 내성(耐性)을 보였으나 피는 감수성(感受性)를 나타냈다. 벼와 파에서 생장저해(生長沮害)는 줄기보다 뿌리에서 더 심한 경향(傾向)을 나타냈으며 2葉期(엽기)에서는 4葉期(葉基)보다 생장저해(生長沮害)가 더 심하였다. 2. 피는 벼보다 $^{14}C$-dithiopyr의 흡수량(吸收量뚫)이 많았으며 뿌리 뿐만 아니라 줄기 기부(基部)를 통하여도 흡수(吸收)되었으며 이행량(移行量)은 두 초종(草種)에서 모두 매우 적었으나 벼보다 피에서 이행속도(移行速度)가 빠른 경향이었다. 3. 따라서 Dithiopyr의 초종(草種)간 선택성(選擇性은) 주로 흡수량(吸收量)과 이행속도(移行速度)의 차이(差異)에 기인(基因)한다고 생각되었다.

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미나리(Oenanthe stolonifera DC.)를 이용한 Bentazon의 생물학적 분해 (Bioremediation Bentazon using Minari(Oenanthe stolonifera DC.) Plant.)

  • 신중두;이명선
    • 한국환경농학회지
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    • 제16권3호
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    • pp.207-211
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    • 1997
  • Bentazon의 잔류를 제거하기 위한 미나리의 생물학적 정화능력을 검정코자 $^{14}C-Bentazon$의 흡수(uptake)와 이행(translocation), 그리고 분해(metabolism) 실험을 통하여 비교 실험하였다. 잎에 처리한지 2일 후에 있어서 $^{14}C$의 21%가 처리된 잎에서 관측되었고, 66%는 잎 표면을 물로 세척한 곳에 잔류하고 있었으며, 나머지 13%는 epicuticular wax층에서 발견되었다. Bentazon을 처리한 잎으로부터 $^{14}C$의 79%가 검출되었으며, 뿌리에는 9%만이 검출되어 잎으로부터 뿌리로의 이행은 매우 적었다. 처리한 2일후에 $^{14}C$의 methanol 추출물 분석에서 잎에 처리된 제초제의 60% 이상이 모든 식물체 부위에서 분해되었다. 본 실험에서 발견된 주요 bentazon의 분해물(Metabolites)은 bentazon이나 6-hydroxy 혹은 8-hydroxy bentazon 보다 덜 이온화(Polar)된 알려지지 않은 신 물질(unknown compound)이었다.

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An update of preimplantation genetic diagnosis in gene diseases, chromosomal translocation, and aneuploidy screening

  • Chang, Li-Jung;Chen, Shee-Uan;Tsai, Yi-Yi;Hung, Chia-Cheng;Fang, Mei-Ya;Su, Yi-Ning;Yang, Yu-Shih
    • Clinical and Experimental Reproductive Medicine
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    • 제38권3호
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    • pp.126-134
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    • 2011
  • Preimplantation genetic diagnosis (PGD) is gradually widely used in prevention of gene diseases and chromosomal abnormalities. Much improvement has been achieved in biopsy technique and molecular diagnosis. Blastocyst biopsy can increase diagnostic accuracy and reduce allele dropout. It is cost-effective and currently plays an important role. Whole genome amplification permits subsequent individual detection of multiple gene loci and screening all 23 pairs of chromosomes. For PGD of chromosomal translocation, fluorescence $in-situ$ hybridization (FISH) is traditionally used, but with technical difficulty. Array comparative genomic hybridization (CGH) can detect translocation and 23 pairs of chromosomes that may replace FISH. Single nucleotide polymorphisms array with haplotyping can further distinguish between normal chromosomes and balanced translocation. PGD may shorten time to conceive and reduce miscarriage for patients with chromosomal translocation. PGD has a potential value for mitochondrial diseases. Preimplantation genetic haplotyping has been applied for unknown mutation sites of single gene disease. Preimplantation genetic screening (PGS) using limited FISH probes in the cleavage-stage embryo did not increase live birth rates for patients with advanced maternal age, unexplained recurrent abortions, and repeated implantation failure. Polar body and blastocyst biopsy may circumvent the problem of mosaicism. PGS using blastocyst biopsy and array CGH is encouraging and merit further studies. Cryopreservation of biopsied blastocysts instead of fresh transfer permits sufficient time for transportation and genetic analysis. Cryopreservation of embryos may avoid ovarian hyperstimulation syndrome and possible suboptimal endometrium.

한국에서 반복 자연유산을 하는 535쌍의 부부에 있어서의 세포 유전학적 연구 (Cytogenetic Study in 535 Couples with Recurrent Spontaneous Abortions in Korea)

  • 황한성;양은석;홍원기;김미순;양영호
    • Clinical and Experimental Reproductive Medicine
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    • 제32권2호
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    • pp.113-119
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    • 2005
  • Objective: The purposes of this study were to investigate the types and the incidences of chromosomal abnormalities, and to provide an explanation for the genetic causations of recurrent spontaneous abortions in Korean population. Methods: Cytogenetic studies were carried out in 535 couples with at least two spontaneous first trimester abortions from January 1981 to December 2003. For karyotype analysis, we used modified Moorhead method by Giemsa staining and Giemsa-Trypsin-Giemsa banding Results: The overall incidence of chromosome abnormality was 32 out of 535 cases (5.98%). There were 25 cases (4.67%) of translocation and 7 cases (1.31%) of inversion. In translocation, 5 cases (0.93%) of Robertsonian translocation and 20 cases (3.74%) of reciprocal translocation were observed. In inversion, 6 cases (1.12%) of inversion of chromosome 9 and one case (0.19%) of inversion of chromosome 18 were found. Conclusion: In this study, overall chromosomal abnormality rate in couples with recurrent spontaneous abortions is much higher than that in the general population. So, chromosomal analysis should be offered for the prognostic information in genetic counseling such as prenatal diagnosis in couples with repetitive reproductive failure.

Immunocytochemical Study on the Translocation Mechanism of Glucose Transporters by Insulin

  • Hah, Jong-Sik;Kim, Ku-Ja
    • The Korean Journal of Physiology
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    • 제27권2호
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    • pp.123-138
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    • 1993
  • The mechanism of insulin action to increase glucose transport is attributed to glucose transporter translocation from intracellular storage pools to the plasma membrane in insulin-sensitive cells. The present study was designed to visualize the redistribution of the glucose transporter by means of an immunogold labelling method. Our data clearly show that glucose transporter molecules were visible by this method. According to the method this distribution of glucose transporters between cell surface and intracellular pool was different in adipocytes. The glucose transporter molecules were randomly distributed at the cell surface whereas the molecules at LDM were farmed as clusters. By insulin treatment the number of homogeneous random particles increased at the cell surface whereas the cluster forms decreased at the intracellular storage pools. It suggests that the active molecules needed to be evenly distributed far effective function and that the inactive molecules in storage pools gathered and termed clusters until being transferred to the plasma membrane.

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A Novel Translocation Involving RUNX1 and HOXA Gene Clusters in a Case of Acute Myeloid Leukemia with t(7;21)(p15;q22)

  • Moon, Yeonsook;Horsman, Douglas E.;Humphries, R. Keith;Park, Gyeongsin
    • IMMUNE NETWORK
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    • 제13권5호
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    • pp.222-226
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    • 2013
  • Translocations involving chromosome 21q22 are frequently observed in hematologic malignancies including acute myeloid leukemia (AML), most of which have been known to be involved in malignant transformation through transcriptional dysregulation of Runt-related transcription factor 1 (RUNX1) target genes. Nineteen RUNX1 translocational partner genes, at least, have been identified, but not Homeobox A (HOXA) genes so far. We report a novel translocation of RUNX1 into the HOXA gene cluster in a 57-year-old female AML patient who had been diagnosed with myelofibrosis 39 months ahead. G-banding showed 46,XX,t(7;21)(p15;q22). The involvement of RUNX1 and HOXA genes was confirmed by fluorescence in situ hybridization.