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- Mantripragada, K K, et al.
(författare)
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Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.
- 2006
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Ingår i: Journal of medical genetics. - : BMJ. - 1468-6244 .- 0022-2593. ; 43:1, s. 28-38
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Segmental duplications flanking the neurofibromatosis type 1 (NF1) gene locus on 17q11 mediate most gene deletions in NF1 patients. However, the large size of the gene and the complexity of the locus architecture pose difficulties in deletion analysis. We report the construction and application of the first NF1 locus specific microarray, covering 2.24 Mb of 17q11, using a non-redundant approach for array design. The average resolution of analysis for the array is approximately 12 kb per measurement point with an increased average resolution of 6.4 kb for the NF1 gene. METHODS: We performed a comprehensive array-CGH analysis of 161 NF1 derived samples and identified heterozygous deletions of various sizes in 39 cases. The typical deletion was identified in 26 cases, whereas 13 samples showed atypical deletion profiles. RESULTS: The size of the atypical deletions, contained within the segment covered by the array, ranged from 6 kb to 1.6 Mb and their breakpoints could be accurately determined. Moreover, 10 atypical deletions were observed to share a common breakpoint either on the proximal or distal end of the deletion. The deletions identified by array-CGH were independently confirmed using multiplex ligation-dependent probe amplification. Bioinformatic analysis of the entire locus identified 33 segmental duplications. CONCLUSIONS: We show that at least one of these segmental duplications, which borders the proximal breakpoint located within the NF1 intron 1 in five atypical deletions, might represent a novel hot spot for deletions. Our array constitutes a novel and reliable tool offering significantly improved diagnostics for this common disorder.
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| 5. |
- Joabsson, F., et al.
(författare)
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Interfacial interaction between sodium dodecyl sulfate and hydrophobically modified ethyl(hydroxyethyl)cellulose. A surface force study
- 2001
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Ingår i: Langmuir. - : American Chemical Society (ACS). - 0743-7463 .- 1520-5827. ; 17:5, s. 1506-1510
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Tidskriftsartikel (refereegranskat)abstract
- The effect of addition of sodium dodecyl sulfate (SDS) to a layer of hydrophobically modified ethyl(hydroxyethyl)cellulose (HM-EHEC) preadsorbed on hydrophobized mica has been studied with an interferometric surface force apparatus (SFA). The force between the surfaces was always repulsive on both compression and separation. The range of this force, which is 1500 Angstrom for the HM-EHEC layers, undergoes a non-monotonic change on addition of SDS. Initially, at low SDS concentrations the layer expand, while at higher surfactant concentrations a contraction of the adsorbed layer is observed. At 1.5 mM SDS the range of the force is at maximum, while at 6 mM SDS the layer is significantly thinner than before addition of SDS. The results are discussed in terms of polymer-surfactant interfacial association and competitive adsorption. The data obtained by surface force measurements agree qualitatively with ellipsometry findings on the same system.
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| 6. |
- Jonsson, A., et al.
(författare)
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Substance Flow Analyses of Organic Pollutants in Stockholm
- 2008
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Ingår i: Water Air Soil Pollut: Focus. - : Springer Science and Business Media LLC. - 1567-7230 .- 1573-2940. ; 8, s. 433-443
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Tidskriftsartikel (refereegranskat)abstract
- This paper summarizes substance flow analyses for four organic substances in the City of Stockholm, Sweden: diethylhexyl phthalate (DEHP), alkylphenolethoxylates (APEO), polybrominated diphenylethers (PBDE) and chlorinated paraffins (CP). The results indicate that the stocks of APEO, PBDE and CP all are approximately 200–250 tonnes, whereas the DEHP stock is two orders of magnitude larger. Emissions can be linked to imported consumer goods such as electronics (PBDE) and textiles (APEO), and to construction materials (DEHP, CP). For several of the substances considerable amounts remain in the technosphere for a long time, even after use of the substance in new products has been eliminated. For example, the use of DEHP as plasticizer for PVC plastics in cables and floorings has more or less been phased-out, but still these applications make up a stock of some 20,000 tonnes (85% of the total DEHP stock in Stockholm) and emit 28 tonnes of DEHP annually (93% of overall emissions). Likewise, the use of chlorinated paraffins in sealants has been radically reduced, but there are 170 tonnes of CP in sealants in Stockholm making up 75% of the stock, and causing half of the emissions to water and air. These emissions are likely to continue for decades, and the stocks therefore have to be considered when analysing and managing the impact of urban substance flows on the environment.
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- Rajnavolgyi, E, et al.
(författare)
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A repetitive sequence of Epstein-Barr virus nuclear antigen 6 comprises overlapping T cell epitopes which induce HLA-DR-restricted CD4(+) T lymphocytes
- 2000
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Ingår i: International Immunology. - : Oxford University Press (OUP). - 1460-2377 .- 0953-8178. ; 12:3, s. 281-293
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Tidskriftsartikel (refereegranskat)abstract
- Most human adults carry the Epstein-Barr virus (EBV) and develop immunological memory against the structural and the virus-encoded cellular proteins. The EBV nuclear antigen 6 (EBNA6) elicits cytotoxic T cell responses and it also maintains a persistent antibody response. The majority of sera from EBV-seropositive individuals reacts with a synthetic peptide, p63, comprising 21 amino acids of a repetitive region of EBNA6. CD4(+) T lymphocytes, with specificity for p63, could be recalled from the T cell repertoire of EBV carriers that expressed certain HLA-DR allotypes which were identified as good binders of p63 by an in vitro flow cytometric assay. Analysis of the HLA-DR/p63 interaction by molecular mechanics calculations indicated the presence of multiple overlapping epitopes which were predicted to bind in a HLA-DRB1 allo- and subtype-specific manner. Specific activation of p63-selected long-term CD4(+) T cell cultures resulted in a proliferative response, in the production of IL-2 and in the secretion of high levels of tumor necrosis factor as measured by bioassays. Proliferation and cytokine production of p63-specific T cells could be induced by p63-loaded HLA-DR-matched antigen-presenting cells and by B cells co-expressing relevant HLA-DR molecules and EBNA6. Our results show that peptides of an EBNA6 repeat region induce CD4(+) T cells which can react with EBNA6-carrying cells in many individuals. We suggest that these T(h) cells may be important in conditioning dendritic cells for initiation potent virus-specific immune responses, provide help for EBV-specific B cells, drive IgG isotype switch and support the sustained effector function of memory cytotoxic T lymphocytes.
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