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Identifier 39605
Title Μελέτη της αστάθειας του μικροδορυφορικού DNA(MICROSATELLITE INSTABILITY) σε κυτταρολογικά δείγματα ασθενών με άσθμα
Creator Paraskakis, Emmanouel N
Abstract Asthma is a common chronic inflammatory disease of the lungs characterized by a number of structural alterations (smooth muscle hyperplasia, thickening of the basal membane) that lead in severe cases to abnormal “remodeling” and permanently reduced airway caliber. The inheritance of asthma has been shown to be a complex, characterized by polygenic inheritance and genetic heterogenic. Recently, it has become apparent that several regions in chromosomes 5q, 6p, 11q, and 14q of the genome are likely to contain susceptibility genes for asthma. DNA microsatellites are highly polymorphic markers used to map specific areas of chromosomes. Certain genetic alterations in microsatellite markers including microsatellite loss of heterozygosity (LOH) and microsatellite instability (MI), have been reported in a number of human malignant and benign diseases characterized by abnormal accumulation of the cells. The aim of this study was to investigate whether genetic defects such as MI and LOH are detectable phenomena in chromosomal regions that are likely to contain susceptibility genes for asthma. Eighteen highly polymorphic microsatellite markers located on chromosomes 5q, 6p, 11q, and 14q were investigated. MI and LOH were scored by comparing the electrophoretic patterns of the microsatellite markers amplified from the paired DNA preparations (sputum/peripheral blood). Results: Genetic alterations were found in 16 out of 22 asthmatic patients (73%). Twelve (54.5%) exhibited LOH only, one patient (4.5%) MI only, while 3 patients showed both MI and LOH. Highest incidence of LOH and MI was found on chromosome 14q. Mean IgE and blood eosinophils were significant higher in asthmatics with 3 or more genetic alterations than those with less (p<0.02, p<0.03 respectively). Conclusion: A high incidence of genetic alterations (either LOH or MI), in the DNA of the sputum cells was found in asthmatic patients. Further studies are needed to identify the role of LOH and MI in the pathogenesis of asthma.
Language Greek
Issue date 2004-03-01
Date available 2004-08-26
Collection   School/Department--School of Medicine--Department of Medicine--Doctoral theses
  Type of Work--Doctoral theses
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