tailieunhanh - Báo cáo y học: "he signature of long-standing balancing selection at the human defensin β-1 promoter"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Minireview cung cấp cho các bạn kiến thức về ngành y đề tài: The signature of long-standing balancing selection at the human defensin β-1 promoter. | Research Open Access The signature of long-standing balancing selection at the human defensin p-1 promoter Rachele Cagliani Matteo Fumagalli Stefania Riva Uberto Pozzoli Giacomo P Comi Giorgia Menozzi Nereo Bresolin and Manuela Sironi Addresses Scientific Institute IRCCS E. Medea Bioinformatic Lab Via don L. Monza 20 23842 Bosisio Parini LC Italy. Bioengineering Department Politecnico di Milano Pzza L. da Vinci 32 20133 Milan Italy. Dino Ferrari Centre Department of Neurological Sciences University of Milan IRCCS Ospedale Maggiore Policlinico Mangiagalli and Regina Elena Foundation Via F. Sforza 35 20100 Milan Italy. Correspondence Manuela Sironi. Email Published 25 September 2008 Genome Biology 2008 9 R143 doi gb-2008-9-9-r143 The electronic version of this article is the complete one and can be found online at http 2008 9 9 R143 Received 28 March 2008 Revised 21 May 2008 Accepted 25 September 2008 2008 Cagliani et al. licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Background Defensins small endogenous peptides with antimicrobial activity are pivotal components of the innate immune response. A large cluster of defensin genes is located on human chromosome 8p among them the beta defensin 1 DEFBI promoterhas been extensively studied since discovery that specific polymorphisms and haplotypes associate with asthma and atopy susceptibility to severe sepsis as well as HIV and Candida infection predisposition. Results Here we characterize the sequence variation and haplotype structure of the DEFBI promoter region in six human populations. In all of them we observed high levels of nucleotide variation an excess of intermediate-frequency alleles reduced population .