• 제목/요약/키워드: Rearrangements

검색결과 118건 처리시간 0.03초

Clinical Significance of Co-expression of Aberrant Antigens in Acute Leukemia: A Retrospective Cohort Study in Makah Al Mukaramah, Saudi Arabia

  • Abdulateef, Nahla Ahmad Bahgat;Ismail, Manar Mohammad;Aljedani, Hanadi
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권1호
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    • pp.221-227
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    • 2014
  • Background: Aberrant phenotypes in acute leukemia have variable frequency and their prognostic and predictive relevance is controversial, despite several reports of clinical significance. Aims: To determine the prevalence of aberrant antigen expression in acute leukemia, assess clinical relevance and demonstrate immunophenotype-karyotype correlations. Materials and Methods: A total of 73 (40 AML and 33 ALL) newly diagnosed acute leukemia cases presenting to KAMC, Kingdom of Saudi Arabia, were included. Diagnosis was based on WHO criteria and FAB classification. Immunophenotyping by flow cytometry, conventional karyotyping and fluorescence in situ hybridization for gene rearrangements were performed. Results: Aberrant antigens were detected in 27/40 (67.5%) of AML and in 14/33 (42.4%) in ALL cases. There were statistically significant higher TLC in Ly+ AML than in Ly-AML (p=0.05) and significant higher blast count in ALL with aberrant antigens at presentation and day 14 (p=0.005, 0.046). There was no significant relation to clinical response, relapse free survival (RFS) or overall survival (p>0.05), but AML cases expressing ${\geq}2$ Ly antigens showed a lower median RFS than those expressing a single Ly antigen. In AML, CD 56 was expressed in 11/40. CD7 was expressed in 7/40, having a significant relation with an unfavorable cytogenetic pattern (p=0.046). CD4 was expressed in 5/40. CD19 was detected in 4/40 AML associated with M2 and t (8; 21). In ALL cases, CD33 was expressed in 7/33 and CD13 in 5/33. Regarding T Ag in B-ALL CD2 was expressed in 2 cases and CD56 in 3 cases. Conclusions: Aberrant antigen expression may be associated with adverse clinical data at presentation. AML cases expressing ${\geq}2$ Ly antigens may have shorter median RFS. No specific cytogenetic pattern is associated with aberrant antigen expression but individual antigens may be related to particular cytogenetic patterns. Immunophenotype-karyotype correlations need larger studies for confirmation.

비강 T/NK 세포형 림프종 1례 (A Case of Nasal T/NK-cell Lymphoma)

  • 이정복;전인상;임호준;오영하;김지혜
    • Clinical and Experimental Pediatrics
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    • 제46권12호
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    • pp.1266-1270
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    • 2003
  • 저자들은 비강내 종괴로 내원한 14세 환아에서 종괴 생검 및 면역 표현형 검사로 비강 T/NK 세포형 림프종으로 진단하고 치료 중인 1례를 보고하는 바이다.

Ku80의 DNA-PKcs 결합부위 합성 Peptide 투여에 의한 유방암세포의 DNA-dependent protein kinase 억제 효과 (Effect on the Inhibition of DNA-PK in Breast Cancer Cell lines(MDA-465 and MDA-468) with DNA-PKcs Binding Domain Synthetic Peptide of Ku80)

  • 김충희;김태숙;문양수;정장용;강정부;김종수;강명곤;박희성
    • 한국임상수의학회지
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    • 제21권3호
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    • pp.253-258
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    • 2004
  • DNA double-strand break (DSB) is a serious treat for the cells including mutations, chromosome rearrangements, and even cell death if not repaired or misrepaired. Ku heterodimer regulatory DNA binding subunits (Ku70/Ku80) bound to double strand DNA breaks are able to interact with 470-kDa DNA-dependent protein kinase catalytic subunit (DNA-PKcs), and the interaction is essential for DNA-dependent protein kinase (DNA-PK) activity. The Ku80 mutants were designed to bind Ku70 but not DNA end binding activity and the peptides were treated in breast cancer cells for co-therapy strategy to see whether the targeted inhibition of DNA-dependent protein kinase (DNA-PK) activity sensitized breast cancer cells to ionizing irradiation or chemotherapy drug to develop a treatment of breast tumors by targeting proteins involved in damage-signaling pathway and/or DNA repair. We designed domains of Ku80 mutants, 26 residues of amino acids (HN-26) as a control peptide or 38 (HNI-38) residues of amino acids which contain domains of the membrane-translocation hydrophobic signal sequence and the nuclear localization sequence, but HNI-38 has additional twelve residues of peptide inhibitor region. We observed that the synthesized peptide (HNI-38) prevented DNA-PKcs from binding to Ku70/Ku80, resulting in inactivation of DNA-PK complex activity in breast cancer cells (MDA-465 and MDA-468). Consequently, the peptide treated cells exhibited poor to no DNA repair, and became highly sensitive to irradiation or chemotherapy drugs. The growth of breast cancer cells was also inhibited. These results demonstrate the possibility of synthetic peptide to apply breast cancer therapy to induce apoptosis of cancer cells.

Duplication and deletion of 21 hydroxylase gene among the normal Korean subjects and in adrenogenital syndrome patients

  • Jin, Dong-Kyu;Beck, Nam-Seon;Oh, Phil-Soo;Whang, Hye-Zin;Koh, Si-Whan;Kim, Jung-Sim;Oh, Myung-Ryurl
    • Journal of Genetic Medicine
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    • 제1권1호
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    • pp.27-31
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    • 1997
  • Steroid 21 hydroxylase deficiency is a major cause of congenital adrenal hyperplasia (CAH) and is caused by genetic impairment of the gene (CYP21B). In the human genome, CYP21B is located within the MHC class III region on the short arm of chromosome 6. Most of the genes in this region are highly polymorphic and crowded. Also the CYP21B gene is accompanied by its pseudogene (CYP21A) and tandemly arranged with two genes of fourth component of complement. This highly complex gene cluster in this area may predispose genetic instability of CYP21, i.e. mutations. In this study, tried to investigate the frequency of duplication and deletion of CYP21 and patterns of the genetic alterations of these genes.We also compared the genetic alteration in normal subjects with those of the CAH patients. The results showed that 15% of the normal korean population have duplication or deletion of CYP21. There was one normal subject with heterozygous deletion of CYP21B. Of the 5 CAH patients examined, 2 were found to show abnormal patterns. One was a large-scale gene conversion and the other a gene conversion associated with deletion involving both CYP21B and C4 locus II gene. Through this study, we carne to the conclusion that the duplication or even deletion of CYP21 and C4 might be quite a common event in the Korean population and these rearrangements must be regarded as polymorphisms. It could contribute to a high incidencs of CAH by providing a genetic pool of instable CYP21.

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Comparing Two Mycobacterium tuberculosis Genomes from Chinese Immigrants with Native Genomes Using Mauve Alignments

  • Ryoo, Sungweon;Lee, Jeongsoo;Oh, Jee Youn;Kim, Byeong Ki;Kim, Young;Kim, Je Hyeong;Shin, Chol;Lee, Seung Heon
    • Tuberculosis and Respiratory Diseases
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    • 제81권3호
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    • pp.216-221
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    • 2018
  • Background: The number of immigrants with tuberculosis (TB) increases each year in South Korea. Determining the transmission dynamics based on whole genome sequencing (WGS) to cluster the strains has been challenging. Methods: WGS, annotation refinement, and orthology assignment for the GenBank accession number acquisition were performed on two clinical isolates from Chinese immigrants. In addition, the genomes of the two isolates were compared with the genomes of Mycobacterium tuberculosis isolates, from two native Korean and five native Chinese individuals using a phylogenetic topology tree based on the Multiple Alignment of Conserved Genomic Sequence with Rearrangements (Mauve) package. Results: The newly assigned accession numbers for two clinical isolates were CP020381.2 (a Korean-Chinese from Yanbian Province) and CP022014.1 (a Chinese from Shandong Province), respectively. Mauve alignment classified all nine TB isolates into a discriminative collinear set with matched regions. The phylogenetic analysis revealed a rooted phylogenetic tree grouping the nine strains into two lineages: strains from Chinese individuals and strains from Korean individuals. Conclusion: Phylogenetic trees based on the Mauve alignments were supposed to be useful in revealing the dynamics of TB transmission from immigrants in South Korea, which can provide valuable information for scaling up the TB screening policy for immigrants.

의료보험 건강진단사업의 개선방안 (Reform Measures of Health Examination Program in Health Insurance Scheme)

  • 박재용
    • 보건교육건강증진학회지
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    • 제16권2호
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    • pp.205-233
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    • 1999
  • This study is an effort to make policy suggestions by analysing the current health examination program as a benefit service provided by the national health insurance system, including health screening for the insured, screening of cancer and chronic diseases for their dependents. Analyses found some issues being gave attention to; 1) The insured under the community health insurance system do not get the health examination benefit. A program for them should be set to have equity in benefit services. 2) Low rates of using screen services compromise purpose and the efficiency the services have first intended to. An immediate attention should be made to increase low rate of use of screen test to detect chronic diseases in particular. 3) Selection of diseases and test items covered by health examination program does not reflect the need of the insured, but to reflect financial resources of the national health insurance system. 4) Lack of health screening facilities and their geographical maldistribution is observed, which with preference of a general hospital as a screening post by the insured may lead to unreliable test. 5) A follow-up system should have been developed for the suspected classified by test results of carrying chronic diseases. They should be cared for within the health examination program. Public health care systems incorporate such a system, along with caring for those who are in need of having a health counselling on preventive care. In conclusion, the national health insurance system should be a medical insurance of giving a higher priority on preventive care benefits, health examination program in particular. That could be done by making rearrangements of test items, screening methods and system, rationalizing current reimbursement system of service fee, increasing accessibility to and utilization of the services, and making an establishment of follow-up system.

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Adding to the freshwater red algal diversity in North America: Lympha mucosa gen. et sp. nov. (Batrachospermales, Rhodophyta)

  • Evans, Joshua R.;Chapuis, Iara S.;Vis, Morgan L.
    • ALGAE
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    • 제32권3호
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    • pp.171-179
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    • 2017
  • The strictly freshwater red algal order Batrachospermales has undergone numerous taxonomic rearrangements in the recent past to rectify the paraphyly of its largest genus Batrachospermum. These systematic investigations have led to the description of new genera and species as well as re-circumscription of some taxa. Specimens collected from two locations in the southeastern USA were initially identified as being allied to Batrachospermum sensu lato, but could not be assigned to any recognized species. Representative rbcL (plastid) and COI-5P (mitochondrion) sequences showed these specimens to be similar to each other and not closely matching the previously published sequence data for other Batrachospermum taxa. Comparison of sequence variation and morphology with a broader range of batrachospermalean taxa resulted in the proposal of a new monotypic genus Lympha mucosa gen. et sp. nov. to accommodate these specimens. Lympha mucosa is sister to members of a newly described genus Volatus, but the two genera are easily distinguished based on straight versus curved, twisted or spirally coiled carpogonial branch, respectively. This new taxon has morphological similarities to Batrachospermum sections Turfosa and Virescentia, but can be differentiated based on genetic divergence in rbcL and COI-5P as well as a combination of morphological characters: dense, compressed whorls, axial carposporophytes with a single type of gonimoblast filament; cortication of the main axis closely appressed; and short, straight carpogonial branch arising from the pericentral cell and carpogonia with unstalked, lanceolate trichogynes. This new taxon adds to the freshwater red algal diversity of the southeastern USA, a region already known for biodiversity and high endemism of the aquatic flora and fauna. It is also a relevant new addition to the taxonomic knowledge of the freshwater red algal Batrachospermales.

Detection of DNA Instability Induced from Tissue Culture and Irradiation in Oryza sativa L. by RAPD Analysis

  • Kim, Dong-Sub;Lee, In-Sok;Hyun, Do-Yoon;Jang, Cheol-Seong;Song, Hi-Sup;Seo, Yong-Weon;Lee, Young-Il
    • Journal of Plant Biotechnology
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    • 제5권1호
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    • pp.25-31
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    • 2003
  • As a consequence of tissue culture of rice, RAPD analysis was peformed to determine whether extended culture periods as undifferentiated calli affected the subsequent genetic constancy, and whether any resulting DNA rearrangements could be detected between sibling plants produced from the same callus. Somaclonal variation was induced at the initial stage of tissue culture and it increased with the length of culture maintenance. Of the 192 total bands, the number of polymorphic bands was 22 (11.5%), 33 (17.2%), and 49 (25.5%) in the callus of 1,3, and 6 months culture, respectively. A significantly higher level of genotypic polymorphisms between regenerants from two different somaclones was also detected, although all the regenerants were derived from a single genotype. In comparison of DNA polymorphisms between regenerants from non-irradiated and from irradiated calli, a scope of variation spectrum by gamma ray irradiation was larger than that by tissue culture. Consideration must be given to this genomic variation where attempts are to be made to use desirable somaclonal variants for plant breeding purpose and in genetic engineering program.

Immature Oocyte-Specific Zap70 and Its Functional Analysis in Regulating Oocyte Maturation

  • Kim, Yun-Na;Kim, Eun-Ju;Kim, Eun-Young;Lee, Hyun-Seo;Kim, Kyeoung-Hwa;Lee, Kyung-Ah
    • 한국발생생물학회지:발생과생식
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    • 제13권3호
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    • pp.145-153
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    • 2009
  • Previously, we obtained the list of genes differentially expressed between GV and MII oocytes. Out of the list, we focused on functional analysis of Zap70 in the present study, because it has been known to be expressed only in immune cells. This is the first report about the expression and its function of Zap70 in the oocytes. Synthetic 475 bp Zap70 dsRNA was microinjected into the GV oocytes, and the oocytes were cultured in vitro. In addition to maturation rates, meiotic spindle and chromosome rearrangements, and changes in expression levels of transcripts of three kinases, Erk1/2, JNK, and p38, were determined. Zap70 is highly expressed in immature GV oocytes, and gradually decreased as oocyte matured. When dsRNA of Zap70 was injected into the GV oocytes, Zap70 mRNA specifically and completely decreased by 2 hr and its protein expression also decreased significantly. Absence of Zap70 resulted in maturation inhibition at meiosis I (57%) with abnormalities in meiotic spindle formation and chromosome rearrangement. Concurrently, mRNA expression of Erk2, JNK, and p38, were affected by Zap70 RNAi. Therefore, we concluded that Zap70 is involved in MI-MII transition by affecting expression of MAP kinases.

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Ginsenosides Inhibit HMGB1-induced Inflammatory Responses in HUVECs and in Murine Polymicrobial Sepsis

  • Lee, Wonhwa;Ku, Sae-Kwang;Jeong, Tae Cheon;Lee, Sangkyu;Bae, Jong-Sup
    • Bulletin of the Korean Chemical Society
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    • 제35권10호
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    • pp.2955-2962
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    • 2014
  • Asian ginseng is used as a treatment for cardiovascular diseases, ischemia, and cancers. High mobility group box 1 (HMGB1) protein acts as a late mediator of severe vascular inflammatory conditions. However, the effect of ginsenosides from Asian ginseng on HMGB1-induced inflammatory responses has not been studied. We addressed this question by monitoring the effects of ginsenoside treatment on lipopolysaccharide (LPS) and cecal ligation and puncture (CLP)-mediated release of HMGB1, and HMGB1-mediated regulation of proinflammatory responses. Ginsenoside treatment suppressed LPS-mediated release of HMGB1 and HMGB1-mediated cytoskeletal rearrangements. Ginsenosides also inhibited HMGB1-mediated inflammatory responses. In addition, ginsenosides inhibited the production of tumor necrosis factor-${\alpha}$ (TNF-${\alpha}$) and activation of protein kinase B (Akt), nuclear factor-${\kappa}B$ (NF-${\kappa}B$), and extracellular-regulated kinases (ERK) 1/2 by HMGB1. Ginsenosides also decreased CLP-induced release of HMGB1, production of interleukin (IL) $1{\beta}/6$, and mortality. These results suggested that ginsenosides may be potential therapeutic agents for treatment of vascular inflammatory diseases through inhibition of the HMGB1 signaling pathway.