Method for the diagnosis of genetic diseases by molecular combing and diagnostic kit
First Claim
1. Method for detecting the presence or the location of one or more genes or of one or more sequences of specific A DNA or of one or more molecules reacting with the DNA on a B DNA, characterized in that:
- (a) a certain quantity of said B DNA is attached to and combed on a combing surface, (b) the B combing product is reacted with one or more labeled probes, bound to the gene(s) or to the sequences of specific A DNA(s) or to the molecules capable of reacting with the DNA, (c) the information corresponding to at least one of the following categories is extracted;
(1) the position of the probes, (2) the distance between probes, (3) the size of the probes (the total sum of the sizes which make it possible to quantify the number of hybridized probes) so as to deduce therefrom the presence, the location and/or the quantity of the genes or of the sequences of specific A DNA.
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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.
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Citations
32 Claims
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1. Method for detecting the presence or the location of one or more genes or of one or more sequences of specific A DNA or of one or more molecules reacting with the DNA on a B DNA, characterized in that:
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(a) a certain quantity of said B DNA is attached to and combed on a combing surface, (b) the B combing product is reacted with one or more labeled probes, bound to the gene(s) or to the sequences of specific A DNA(s) or to the molecules capable of reacting with the DNA, (c) the information corresponding to at least one of the following categories is extracted;
(1) the position of the probes, (2) the distance between probes, (3) the size of the probes (the total sum of the sizes which make it possible to quantify the number of hybridized probes) so as to deduce therefrom the presence, the location and/or the quantity of the genes or of the sequences of specific A DNA. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28, 29, 30)
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27. Genomic DNA or genomic DNA portion capable of reacting, under molecular combing conditions, with a probe corresponding to a product of transcription or of translation or of regulation.
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31. Molecule capable of reacting with the genomic DNA capable of being combed, which is isolated by one of the methods previously claimed.
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32. Molecule, solvent or method linked to a parameter identified by one of the methods previously claimed.
Specification