combined mutation and rearrangement screening by quantitative pcr high-resolution melting is it relevant for hereditary recurrent fever genes结合突变和重组定量pcr筛选的高分辨率融化是相关的遗传基因回归热.pdfVIP

Combined Mutation And Rearrangement Screening by Quantitative PCR High-Resolution Melting: Is It Relevant for Hereditary Recurrent Fever Genes? 1 1 1 ´ 1 2 Nathalie Pallares-Ruiz , Laurent Philibert , Bruno Dumont , Aurelie Fabre , Laurence Cuisset , Elodie 1 ´ 1 ´ 1 1,3 Cointin , Cecile Rittore , Stephan Soler , Isabelle Touitou * ´ ´ ´ ´ ˆ ˆ 1 Unite Medicale des Maladies Auto-Inflammatoires, Laboratoire de Genetique, Hopital A de Villeneuve, Montpellier, France, 2 Assistance Publique Hopitaux de Paris, ˆ ´ ´ Hopital Cochin et Institut Cochin, Universite Paris Descartes, INSERM, Paris, France, 3 Universite Montpellier 1, Montpellier, France Abstract The recent identification of genes implicated in hereditary recurrent fevers has allowed their specific diagnosis. So far however, only punctual mutations have been identified and a significant number of patients remain with no genetic confirmation of their disease after routine molecular approaches such as sequencing. The possible involvement of sequence rearrangements in these patients has only been examined in familial Mediterranean fever and was found to be unlikely. To assess the existence of larger genetic alterations in 3 other concerned genes, MVK (Mevalonate kinase), NLRP3 (Nod like receptor family, pyrin domain containing 3) and TNFRSF1A (TNF receptor superfamily 1A), we adapted the qPCR-HRM method to study possible