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Sökning: WFRF:(Thuresson K) > Engelska

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1.
  • Mantripragada, K K, et al. (författare)
  • Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.
  • 2006
  • Ingår i: Journal of medical genetics. - : BMJ. - 1468-6244 .- 0022-2593. ; 43:1, s. 28-38
  • 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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  • Joabsson, F., et al. (författare)
  • Interfacial interaction between sodium dodecyl sulfate and hydrophobically modified ethyl(hydroxyethyl)cellulose. A surface force study
  • 2001
  • Ingår i: Langmuir. - : American Chemical Society (ACS). - 0743-7463 .- 1520-5827. ; 17:5, s. 1506-1510
  • 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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