tailieunhanh - Báo cáo y học: "Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population"

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: Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population. | Research Open Access Deafblindness in French Canadians from Quebec a predominant founder mutation in the USHIC gene provides the first genetic link with the Acadian population Inga Ebermann Irma Lopez Maria Bitner-Glindzicz Carolyn Brown Robert Karel Koenekoop and Hanno Jorn Bolz Addresses institute of Human Genetics University Hospital of Cologne Kerpener Str. 50931 Cologne Germany. McGill Ocular Genetics Laboratory Montreal Children s Hospital Research Institute Tupper Montreal PQ Canada H3H 1P3. Unit of Clinical and Molecular Genetics Institute of Child Health University College London Guilford St London WC1N 1EH UK. Correspondence Hanno Jorn Bolz. Email Published 3 April 2007 Genome Biology 2007 8 R47 doi 186 gb-2007-8-4-r47 The electronic version of this article is the complete one and can be found online at http 2007 8 4 R47 Received 7 December 2006 Revised 2 March 2007 Accepted 3 April 2007 2007 Ebermann 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 Usher syndrome type 1 USH1 is the leading cause of deafblindness. In most populations many private mutations are distributed across the five known USH1 genes. We investigated patients from the French Canadian population of Quebec approximately 6 million people that descends from about 8 500 French settlers who colonized the St Lawrence River valley between 1608 and 1759. We hypothesized that founder mutations in USH1 genes exist in this population. Results We have genetically characterized 15 patients from different regions of Quebec who were clinically diagnosed as USH1. Of these cases 60 carried mutations of the USHIC gene a genetic subtype that is rare outside the Acadian population. We have .