Method for the diagnosis of genetic diseases by molecular combing and diagnostic kit
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Abstract
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.
17 Citations
45 Claims
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1-32. -32. (canceled)
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33. A method of identifying a genetic abnormality comprising a break in a genome, wherein the method comprises:
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(a) providing a surface on which genomic DNA has been aligned using a molecular combing technique; (b) contacting the genomic DNA with at least one probe that is specific for a genomic sequence for which the genetic abnormality is sought; (c) detecting a hybridization signal between the at least one probe and the genomic DNA; and (d) identifying the presence of the break in the genome directly or by comparing the length of the hybridized sequences to the length of hybridized sequences obtained using a control genome that does not contain the break and the at least one probe of part (b), wherein the lengths of the hybridized sequences are converted into a histogram. - View Dependent Claims (34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45)
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Specification