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    • 8. 发明申请
    • MUTATIONS ASSOCIATED WITH THE LONG QT SYNDROME AND DIAGNOSTIC USE THEREOF
    • 与长QT综合征相关的突变及其诊断用途
    • WO2006131528A3
    • 2007-03-29
    • PCT/EP2006062956
    • 2006-06-07
    • FOND SALVATORE MAUGERI CLINICAUNIV PAVIAPRIORI SILVIA GIULIANA
    • PRIORI SILVIA GIULIANA
    • C12Q1/68
    • C12Q1/6883C12Q2600/106C12Q2600/156
    • The present invention is based on the identification of new mutations in KCNQ1 (also termed KvLQTI), KCNH2 (also termed HERG), SCN5A, KCNE1 (also termed minK), KCNE2 (also termed MiRP) genes that encode ionic channels involved in cardiac electrical activity and are potentially responsible for the Long QT Syndrome. According to a main aspect, the invention relates to nucleic acids, oligonucleotides and polynucleotides and mRNA, containing sequences of KCNQ1 , KCNH2 SCN5A, KCNE1 , KCNE2 genes and cDNAs in a mutated form and to respective variant proteins thereof. A preferred embodiment of the present invention is represented by a diagnostic method based on the identification of a group of about 70 non-private mutations in the KCNQ1 , KCNH2 and SCN5A genes, detected at high frequency. The method, which is able to identify about 40% of the probands, is non exclusively based on identification of mutations that are described and characterized in this invention where said identification has both prognostic and diagnostic value for the Long QT Syndrome.
    • 本发明基于鉴定KCNQ1(也称为KvLQTI),KCNH2(也称为HERG),SCN5A,KCNE1(也称为minK),KCNE2(也称为MiRP)基因的新突变,其编码涉及心脏电的离子通道 活动,并可能对长QT综合征负责。 根据主要方面,本发明涉及包含KCNQ1,KCNH2 SCN5A,KCNE1,KCNE2基因和突变形式的cDNA及其各自变体蛋白质的序列的核酸,寡核苷酸和多核苷酸和mRNA。 本发明的优选实施方案以基于鉴定在高频检测的KCNQ1,KCNH2和SCN5A基因中约70个非私人突变的组的诊断方法表示。 能够鉴定约40%的先证者的方法不仅仅基于本发明描述和表征的突变的鉴定,其中所述鉴定对于长QT综合征具有预后和诊断价值。