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METHOD FOR DIAGNOSIS OF GENETIC DISEASES BY MOLECULAR COMBING AND DIAGNOSIS BOX

机译:分子梳和诊断盒诊断遗传性疾病的方法

摘要

The invention concerns a method for detecting or locating one or several genes of one or several specific A DNA sequence or one or several molecules reacting with DNA on a B DNA characterised in that it consists in: (a) fixing and combing a certain amount of said B DNA on a combing surface; (b) reacting the product of the B combing with one or several probes, linked with the gene(s) or specific A DNA sequences, or with the molecules capable of reacting with DNA; (c) extracting information corresponding to at least one of the following categories: (1) the position of the probes, (2) the distance between the probes, (3) the size of the probes (the total sum of sizes for quantifying the number of hybridised probes) for determining therefrom the presence, the location and/or the amount of genes or specific A DNA sequences. This method can be used in particular for the diagnosis of genetic diseases.
机译:本发明涉及一种检测或定位一个或几个特定的​​A DNA序列的一个或几个基因或与B DNA上的DNA反应的一个或几个分子的方法,其特征在于:(a)固定并结合一定量的所述B DNA在梳理表面上; (b)使B梳的产物与一种或几种与基因或特异性A DNA序列连接的探针或与能够与DNA反应的分子反应; (c)提取与至少以下类别之一相对应的信息:(1)探针的位置,(2)探针之间的距离,(3)探针的大小(用于量化探针的大小的总和) (杂交探针的数量),从而确定基因或特定A DNA序列的存在,位置和/或数量。该方法尤其可以用于遗传疾病的诊断。

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