{"id":88,"date":"2011-01-25T20:12:57","date_gmt":"2011-01-25T20:12:57","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=88"},"modified":"2011-01-25T20:12:57","modified_gmt":"2011-01-25T20:12:57","slug":"rapid-identification-of-mutations-in-gjc2-in-primary-lymphoedema-using-whole-exome-sequencing-combined-with-linkage-analysis-with-delineation-of-the-phenotype","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2011\/01\/25\/rapid-identification-of-mutations-in-gjc2-in-primary-lymphoedema-using-whole-exome-sequencing-combined-with-linkage-analysis-with-delineation-of-the-phenotype\/","title":{"rendered":"Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype"},"content":{"rendered":"<p>Lymphoedema is swelling of parts of the body due to a failure of the lymph vessels. The lymph system takes up fluid from the tissues, and transports cells that fight against infection round the body.<\/p>\n<p>This paper describes the identification of a gene which can cause lymphoedema. A newly developed technique known as whole exome sequencing was used to find this gene.\u00a0 The gene, called <em>GJC2<\/em>, makes a protein that is part of cell junctions. It opens an entirely new area to look for genes that might cause this disease. It has also been identified independently by a research group in the USA, confirming it does cause lymphoedema.\u00a0<\/p>\n<p>It is hoped that using this new technique will rapidly lead to the discovery of more genes which cause lymphoedema. (Pia Ostergaard, Michael A Simpson, Glen Brice, Sahar Mansour, Fiona C Connell, Alexandros Onoufriadis, Anne H Child, Jae Hwang, Kamini Kalidas, Peter S Mortimer, Richard Trembath, Steve Jeffery, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2011\/01\/24\/jmg.2010.085563?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2011\/01\/24\/jmg.2010.085563?papetoc<\/a>)<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Lymphoedema is swelling of parts of the body due to a failure of the lymph vessels. The lymph system takes up fluid from the tissues, and transports cells that fight against infection round the body. This paper describes the identification of a gene which can cause lymphoedema. A newly developed technique known as whole exome [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2011\/01\/25\/rapid-identification-of-mutations-in-gjc2-in-primary-lymphoedema-using-whole-exome-sequencing-combined-with-linkage-analysis-with-delineation-of-the-phenotype\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-88","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/88","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=88"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/88\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=88"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=88"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=88"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}