Genomic Vision

Institut Pasteur

Université´ D'aix-Marseille

Assistance Publique Des Hopitaux Marseille

Assistance Publique Des Hopitaux De Marseille

Pierre Walrafen

Aaron Bensimon

Ronald Lebofsky

Emmanuel Conseiller

Nicolas Levy

Maurizio Ceppi

Anne Vannier

Jun Komatsu

Kevin Cheeseman

Nicolas Lévy

The present invention relates to a method for analyzing in vitro D4Z4 tandem repeat arrays of nucleic acid contained on nucleic acid representative of chromosomes, in particular on nucleic acid representative of Human chromosomes 4 and 10, and to a kit therefore. Said method is in particular suitable for determining the number of D4Z4 repeat units in said D4Z4 repeat arrays. Said method is based on stretching of nucleic acid and in particular on Molecular Combing and relies on the use of probes, especially nucleic acid probes, with a particular design. The invention also relates to a method for providing tools for the diagnosis of facioscapulohumeral muscular dystrophy (FSHD) and to a diagnostic kit therefore. The invention further relates to a method for identifying biochemical events and/or genetic in regions containing such tandem repeat arrays.

Method for analyzing D4Z4 tandem repeat arrays of nucleic acid and kit therefore

A method for detection, visualization and/or comparison of polynucleotide sequences of interest using specially designed sets of long and short probes that enhance resolution and simplify visualization and detection. Probe compositions useful for practicing this method and procedures for identifying useful probes and probe combinations. These methods are useful for the detection of genomic rearrangements, especially those associated with various diseases, disorders and conditions including cancer or for assessment of genomic rearrangements associated with therapy. The probe compositions may be used in kits for detection of genetic rearrangements or in companion diagnostic products or kits, such as kits for the diagnosis or assessment of predisposition to cancer such as colorectal cancer.

Method for identifying or detecting genomic rearrangements in a biological sample

The present invention relates to a method of detection of the presence of at least one domain of interest on a macromolecule to test, wherein said method comprises the following steps: a) determining beforehand at least two target regions on the domain of interest, designing and obtaining corresponding labeled probes of each target region, named set of probe of the domain of interest, the position of these probes one compared to the others being chosen and forming the specific signature of said domain of interest on the macromolecule to test; b) after spreading of the macromolecule to test on which the probes obtained in step a) are bound, detection of the position one compared to the others of the probes bound on the linearized macromolecule, the detection of the signature of a domain of interest indicating the presence of said domain of interest on the macromolecule to test, and conversely the absence of detection of signature or part of signature of a domain of interest indicating the absence of said domain or part of said domain of interest on the macromolecule to test.

Genomic morse code

The present invention relates to a method of detection of the presence of at least one domain of interest on a macromolecule to test, wherein said method comprises the following steps:

Growing community of inventors

Montrouge, France

Pierre Walrafen