US 7,732,143 B2Granted

Method for the diagnosis of genetic diseases by molecular combing and diagnostic kit

AssigneesInstitut Pasteur, Centre National de la Recherche Scientifique (CNRS)

InventorsAaron Bensimon, David Bensimon, Xavier Michalet

Life of this patent

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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.

Claims14

Dependent claims

A method of identifying a genetic abnormality comprising a break in a genome, wherein the method comprises:

(a) providing a surface on which genomic DNA comprising a plurality of clones 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;
(d) identifying the presence of the break in the genome directly or by comparing the length of the sequences detected by the hybridization signal to the length of sequences detected by a hybridization signal obtained using a control genome that does not contain the break and the at least one probe of part (b), and
(e) determining the number of clones having a defined probe length, wherein the determined numbers of clones and the lengths of the sequences detected by the hybridization signals are converted into a graph.

2 more elements

Dependencies are inferred from the claim text.

Facts

Application: 12/076,408Filed 18 Mar 2008 · continuation
Priority: FR 96 1327630 Oct 1996
Published: US 2009/0123926 A114 May 2009
Granted: 8 Jun 2010
Term ends: Not estimatedThe source records don’t support an estimate.

Classification12 codes

C12Q 1/6841
Hybridisation assays: in situ hybridisation
C12Q 1/6809
Involving nucleic acids: methods for determination or identification of nucleic acids involving differential detection
C12Q 1/6827
Hybridisation assays: for detection of mutation or polymorphism
C12Q 1/6834
Hybridisation assays: enzymatic or biochemical coupling of nucleic acids to a solid phase

Family

PCT/FR97/01949Parent of this continuation · filed 30 Oct 1997
Application09/921,302Parent of this continuation · filed 3 Aug 2001
Application10/386,354Parent of this continuation · filed 11 Mar 2003
US 2009/0123926 A1Pre-grant publication · published 14 May 2009
US 7,368,234 B2Parent of this continuation
Application09/297,302Parent of this continuation
US 6,344,319 B1Parent of this continuation
US 2002/0048767 A1Published application
US 2004/0033510 A1Published application
US 7,732,143 B2This patent

From the US filing history. Foreign family members aren’t listed.