Methods for detection of genetic disorders

C - Chemistry – Metallurgy – 12 – Q

Patent

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C12Q 1/68 (2006.01) C07H 19/00 (2006.01) C07H 21/00 (2006.01) C07H 21/02 (2006.01) C07H 21/04 (2006.01)

Patent

CA 2517017

The invention provides a method useful for detection of genetic disorders. The method comprises determining the sequence of alleles of a locus of interest, and quantitating a ratio for the alleles at the locus of interest, wherein the ratio indicates the presence or absence of a chromosomal abnormality. The present invention also provides a non-invasive method for the detection of chromosomal abnormalities in a fetus. The invention is especially useful as a non-invasive method for determining the sequence of fetal DNA. The invention further provides methods of isolation of free DNA from a sample.

L'invention concerne un méthode utile pour la détection de troubles génétiques. Cette méthode consiste à déterminer la séquence d'allèles d'un locus à examiner, et à quantifier un rapport pour les allèles au niveau du locus à examiner. Ce rapport indique la présence ou l'absence d'une anormalité chromosomique. L'invention concerne également une méthode non invasive pour la détection d'anormalités chromosomiques chez un foetus. L'invention est spécifiquement utile en tant que méthode non invasive pour déterminer la séquence d'un ADN foetal. L'invention concerne également des méthodes d'isolement d'ADN libre à partir d'un échantillon.

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