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Báo cáo khoa hoc:" Association study with Wegener granulomatosis of the human phospholipase Cγ2 gene"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Association study with Wegener granulomatosis of the human phospholipase Cγ2 gene | Journal of Negative Results in BioMedicine BioMed Central Research Open Access Association study with Wegener granulomatosis of the human phospholipase Cỵ2 gene Peter Jagiello t1 Stefan Wieczorek 1 Philipp Yu2 Elena Csernok3 Wolfgang L Gross3 and Joerg T Epplen1 Address Department of Human Genetics Ruhr-University Bochum Germany institute of Medical Microbiology Immunology and Hygiene Technical University Munich Germany and 3Department of Rheumatology University Hospital Luebeck and Rheumaklinik Bad Bramstedt Germany Email Peter Jagiello - peter.jagiello@rub.de Stefan Wieczorek - stefan.wieczorek@rub.de Philipp Yu - philipp.yu@lrz.tu-muenchen.de Elena Csernok - csernok@rheuma-zentrum.de Wolfgang L Gross - gross@rheuma-zentrum.de Joerg T Epplen - joerg.t.epplen@rub.de Corresponding author tEqual contributors Published 09 February 2005 Received 07 October 2004 r-71-1 I Accepted 09 February 2005 Journal of Negative Results in BioMedicine 2005 4 1 doi l0.ll86 l 477-5751-4-1 This article is available from http www.jnrbm.com content 4 1 1 2005 Jagiello et al licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http creativecommons.Org licenses by 2.0 which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Background Wegener Granulomatosis WG is a multifactorial disease of yet unknown aetiology characterized by granulomata of the respiratory tract and systemic necrotizing vasculitis. Analyses of candidate genes revealed several associations e.g. with cz 1 -antitrypsin proteinase 3 and with the HLA-DPB1 locus. A mutation in the abnormal limb mutant 5 ALI5 mouse in the region coding for the hydrophobic ridge loop 3 HRL3 of the phospholipaseCỵ2 PLCỵ-2 gene corresponding to human PLCỵ-2 exon 27 leads to acute and chronic inflammation and granulomatosis. For that reason we screened exons ll l2 and l3 coding for the hydrophobic