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专利名称：Method for the diagnosis of genetic
diseases by molecular combing anddiagnostic kit
发明人：Aaron Bensimon,David Bensimon,Xavier
Michalet
申请号：US10386354申请日：20030311
公开号：US20040033510A1公开日：20040219
专利附图：
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 DNAon a B DNA characterised in that it consists in: (a) fixing and combing a certain amount ofsaid B DNA on a combing surface; (b) reacting the product of the B combing with one orseveral probes, linked with the gene(s) or specific A DNA sequences, or with themolecules capable of reacting with DNA; (c) extracting information corresponding to atleast one of the following categories: (1) the position of the probes, (2) the distancebetween the probes, (3) the size of the probes (the total sum of sizes for quantifying thenumber of hybridised probes) for determining therefrom the presence, the locationand/or the amount of genes or specific A DNA sequences. This method can be used inparticular for the diagnosis of genetic diseases.
申请人：INSTITUT PASTEUR AND CENTRE NATIONAL DE LA RECHERCHESCIENTIFIQUE (CNRS).
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