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1.
Br J Haematol ; 113(2): 365-8, 2001 May.
Article in English | MEDLINE | ID: mdl-11380400

ABSTRACT

To identify a commonly deleted region of 13q14 in idiopathic myelofibrosis (IMF), we used fluorescence in situ hybridization analysis to test for deletion of the RB1 and BRCA2 genes, and the microsatellite loci D13S319 and D13S25, in a series of 25 patients. A further two patients with myelofibrosis secondary to polycythaemia vera and essential thrombocythaemia with reciprocal 13q translocations were studied in an attempt to further define the CDR. Twenty out of 21 patients with a cytogenetically normal chromosome 13 failed to show allelic loss with any of the four probes. In contrast, all four cases with cytogenetic deletion of 13q14 and both cases with 13q translocations involving 13q14 exhibited loss of RB1, D13S319 and D13S25. Loss of the BRCA2 locus was present in a single case only. Our results indicate that cryptic deletions of the 13q14 in myelofibrosis are rare. In addition, the genetic loss associated with cytogenetic 13q14 deletions or reciprocal translocations involving 13q14 is large and encompasses the gene-rich region around RB1, D13S319 and D13S25.


Subject(s)
Chromosome Aberrations/diagnosis , Chromosomes, Human, Pair 13 , Gene Deletion , Primary Myelofibrosis/genetics , Translocation, Genetic , Adult , Aged , Aged, 80 and over , Chromosome Disorders , Female , Humans , In Situ Hybridization, Fluorescence , Male , Middle Aged
2.
Tissue Cell ; 16(2): 237-50, 1984.
Article in English | MEDLINE | ID: mdl-6429895

ABSTRACT

Progressive changes in the ultrastructure of the larval fat body of Drosophila melanogaster were studied during the third instar. In addition to electron microscopy, light microscopy and morphometric stereology were employed to evaluate the tissue at five 12-hr intervals: 48, 60, 72, 84, and 96 hr after hatching from the egg. Lipid and glycogen were found stored throughout the instar, whereas protein is stored in the form of cytoplasmic granules mainly during the final 24 hr. The cells increased in cross-sectional area, and there was a concomitant increase in the relative amounts of these substances. Based on morphological characteristics there were three types of protein granules which we called dense granules (D), heterogeneous granules (H), and autophagic vacuoles. The morphology, size range, time of appearance, and changes in frequency of these granules suggested that the H type arose from D granules, and that the autophagic vacuoles were derived from D and H types. Morphological evidence indicated D granules have the unusual characteristic of forming in the intercellular space before entering the cytoplasm.


Subject(s)
Adipose Tissue/ultrastructure , Drosophila melanogaster/anatomy & histology , Fat Body/ultrastructure , Animals , Cell Survival , Cytoplasmic Granules/analysis , Fat Body/analysis , Glycogen/analysis , Larva/anatomy & histology , Lipids/analysis , Microscopy, Electron , Proteins/analysis , Time Factors
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