Methods for detection of genetic disorders

C - Chemistry – Metallurgy – 12 – Q

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

Patent

CA 2477761

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.

L'invention concerne un procédé utile pour détecter des troubles génétiques. Le procédé comporte les étapes consistant à déterminer la séquence d'allèles d'un locus voulu, et à quantifier un taux d'allèles audit locus, ce taux indiquant la présence ou l'absence d'une anormalité chromosomique. L'invention concerne aussi un procédé non effractif de détection d'anormalités chromosomiques chez un foetus. Elle est spécialement utile comme procédé non effractif pour déterminer la séquence d'ADN foetal.

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