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Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Critical Care giúp cho các bạn có thêm kiến thức về ngành y học đề tài: Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes. | Open Access Research Detailed analysis of15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi Angelman and inv dup 15 syndromes Andrew J Makoff and Rachel H Flomen Address Department of Psychological Medicine King s College London Institute of Psychiatry Denmark Hill London SE5 8AF UK. Correspondence Andrew J Makoff. Email a.makoff@iop.kcl.ac.uk Published 15 June 2007 Genome Biology 2007 8 R1 14 doi 10.1186 gb-2007-8-6-r1 14 The electronic version of this article is the complete one and can be found online at http genomebiology.com 2007 8 6 R114 Received 22 December 2006 Revised 23 April 2007 Accepted 15 June 2007 2007 Makoff and Flomen 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 Chromosome 15 contains many segmental duplications including some at 15q11-q1 3 that appear to be responsible for the deletions that cause Prader-Willi and Angelman syndromes and for other genomic disorders. The current version of the human genome sequence is incomplete with seven gaps in the proximal region of 15q some of which are flanked by duplicated sequence. We have investigated this region by conducting a detailed examination of the sequenced genomic clones in the public database focusing on clones from the RP11 library that originates from one individual. Results Our analysis has revealed assembly errors including contig NT_078094 being in the wrong orientation and has enabled most of the gaps between contigs to be closed. We have constructed a map in which segmental duplications are no longer interrupted by gaps and which together reveals a complex region. There are two pairs of large direct repeats that are located in
