Methods for obtaining and using haplotype data
    3.
    发明公开
    Methods for obtaining and using haplotype data 审中-公开
    一种用于制备和使用数据单倍型的过程

    公开(公告)号:EP1233365A3

    公开(公告)日:2004-11-17

    申请号:EP02007044.7

    申请日:2000-06-26

    IPC分类号: G06F19/00

    摘要: Method(s), computer program(s) and database(s) to analyze and make use of gene haplotype information. These include methods, program, and database to find and measure the frequency of haplotypes in the general population; methods, program, and database to find correlations between an individual's haplotypes or genotypes and a clinical outcome; methods, program and database to predict an individual's haplotypes from the individual's genotype for a gene; and methods, program and database to predict an individual's clinical response to a treatment based on the individual's genotype or haplotype.

    Methods for obtaining and using haplotype data
    5.
    发明公开
    Methods for obtaining and using haplotype data 审中-公开
    获得和使用单元型数据的方法

    公开(公告)号:EP1233365A2

    公开(公告)日:2002-08-21

    申请号:EP02007044.7

    申请日:2000-06-26

    IPC分类号: G06F19/00

    摘要: Method(s), computer program(s) and database(s) to analyze and make use of gene haplotype information. These include methods, program, and database to find and measure the frequency of haplotypes in the general population; methods, program, and database to find correlations between an individual's haplotypes or genotypes and a clinical outcome; methods, program and database to predict an individual's haplotypes from the individual's genotype for a gene; and methods, program and database to predict an individual's clinical response to a treatment based on the individual's genotype or haplotype.

    摘要翻译: 方法,计算机程序和数据库来分析和利用基因单体型信息。 这些包括方法,程序和数据库,以查找和测量一般人群中单体型的频率; 方法,程序和数据库,以查明个体的单体型或基因型与临床结果之间的相关性; 方法,程序和数据库,以预测个体基因型个体的单倍型为基因; 以及基于个体的基因型或单体型来预测个体对治疗的临床反应的方法,程序和数据库。

    POLYMORPHISMS ASSOCIATED WITH ION-CHANNEL DISEASE
    10.
    发明公开
    POLYMORPHISMS ASSOCIATED WITH ION-CHANNEL DISEASE 审中-公开
    离子通道病相关的多态性

    公开(公告)号:EP1425415A2

    公开(公告)日:2004-06-09

    申请号:EP02757301.3

    申请日:2002-08-20

    IPC分类号: C12Q1/68 C07H21/04

    CPC分类号: C12Q1/6883 C12Q2600/156

    摘要: The present invention provides methods and materials to identify genetic abnormalities that predispose an individual to ion-channel diseases. The invention provides four polymorphic sites in the KCNQ1 gene that cause reduced conductance of the associated potassium ion channel current and a variant form of the KCNE1 gene which causes decreased conductance though the channel. The variant form of KCNE1 also acts synergistically with variants of KCNQ1 to cause further decreased conductance than either variant alone. The invention further provides polymorphisms in ion channel genes showing a higher frequency in populations afflicted with ion channel diseases or within control groups. The detection of these polymorphic sites that produce the potassium ion channel protein variants in either heterozygous or homozygous form in a subject indicates that the subject has, or is susceptible to, ion channel diseases such as congenital or acquired cardiac arrhythmia, LQT syndrome, SIDS, epilepsy, or hearing loss.