Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: Tandem repeat copy-number variation in protein-coding regions of human genes. | Research Open Access Tandem repeat copy-number variation in protein-coding regions of human genes Colm T O Dushlaine Richard J Edwards Stephen D Park and Denis C Shields Address Bioinformatics Core Department of Clinical Pharmacology and Institute of Biopharmaceutical Sciences Royal College of Surgeons in Ireland 123 St Stephen s Green Dublin 2 Ireland. Correspondence Denis C Shields. E-mail dshields@ Published 28 July 2005 Genome Biology 2005 6 R69 doi 186 gb-2005-6-8-r69 The electronic version of this article is the complete one and can be found online at http 2005 6 8 R69 Received 11 February 2005 Revised 31 May 2005 Accepted 13 July 2005 2005 O Dushlaine 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 Tandem repeat variation in protein-coding regions will alter protein length and may introduce frameshifts. Tandem repeat variants are associated with variation in pathogenicity in bacteria and with human disease. We characterized tandem repeat polymorphism in human proteins using the UniGene database and tested whether these were associated with host defense roles. Results Protein-coding tandem repeat copy-number polymorphisms were detected in 249 tandem repeats found in 218 UniGene clusters observed length differences ranged from 2 to 144 nucleotides with unit copy lengths ranging from 2 to 57. This corresponded to 218 13 749 of proteins investigated carrying detectable polymorphisms in the copy-number of protein-coding tandem repeats. We found no evidence that tandem repeat copy-number polymorphism was significantly elevated in defense-response proteins p . An association with the Gene Ontology term protein-binding remained significant after covariate .
