UN CO RR EC TE D PR OO F A 24 - bp duplication in exon 10 of human chitotriosidase gene from the sub - Saharan to the Mediterranean area : role of parasitic diseases and environmental conditions
نویسنده
چکیده
L Malaguarnera, J Simporè, DA Prodi, A Angius, A Sassu, I Persico, R Barone and S Musumeci Department of Biomedical Sciences, University of Catania, Italy; Centre Medical San Camille, Ouagdougou, Burkina Faso, Italy; Institute of Population Genetics, CNR, Alghero, Italy; Institute of Neurological Sciences, Catania Section, CNR, Cosenza, Italy; Department of Pharmacology, Gynecology/Obstetrics, Pediatrics, University of Sassari, Italy
منابع مشابه
UN CO RR EC TE D PR OO F 1 Motivational priming and processing interrupt : Startle re fl ex modulation during
8 Article history: 9 Received 7 September 2009 10 Received in revised form 10 February 2010 11 Accepted 11 February 2010 12 Available online xxxx 1345 16
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3 AHMED SAID*, DAVID K. STEVENS and GERALD SEHLKE 4 Department of Civil and Environmental Engineering, University of South Florida, Tampa, FL, USA; 5 2 Civil and Environmental Engineering Department, Utah State University, Logan, UT, USA; 6 3 Integrated Environmental Analysis Department, Idaho National Engineering and Environmental 7 Laboratory, Idaho Falls, Idaho, USA 8 (*author for correspond...
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The human genome encodes a gene for an enzymatically active chitinase (CHIT1) located in a single copy on Chromosome 1, which is highly expressed by activated macrophages and in other cells of the innate immune response. Several dysfunctional mutations are known in CHIT1, including a 24-bp duplication in Exon 10 causing catalytic deficiency. This duplication is a common variant conserved in man...
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© 2008 The Authors. Journal compilation © 2008 British Ecological Society F E C 1 4 6 4 Operator: ZhangYi Dispatch: 29.07.08 PE: Penny Baker Journal Name Manuscript No. Proofreader: Chen Xiaoming No. of Pages: 7 Copy-editor: Cadgraf UN CO RR EC TE D PR OO F 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 5...
متن کاملChitotriosidase deficiency: a mutation update in an african population.
Human plasma chitotriosidase activity is a commonly used diagnostic and therapeutic biomarker for non-neuronopathic Gaucher disease. Chitotriosidase deficiency is common in non-African populations and is primarily caused by a 24 bp duplication in the encoding gene (CHIT1). Allele frequencies for the 24 bp duplication range from 20-50 % outside Africa. The present study found chitotriosidase def...
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