New method for genotype determination

C - Chemistry – Metallurgy – 12 – Q

Patent

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C12Q 1/68 (2006.01)

Patent

CA 2442936

The present invention is directed to a new method for genotype determination at a specific gene locus of an individual or a fetus comprising (i) amplifying a first sequence of said gene locus and a second sequence of a second reference gene locus from DNA originating from a sample containing biological material of said individual or fetus (ii) Monitoring both amplifications preferably in real time and determining the amount of amplification products after each cycle, and (iii) Calculating the ratio between the amount of DNA from the first gene locus and the amount of DNA from the second gene locus. The new method is useful for a variety of applications, especially for detection of chromosomal abnormalities in fetal cells.

L'invention concerne une nouvelle de détermination du génotype au niveau d'un locus de gène spécifique d'un individu ou d'un foetus. Cette méthode consiste à (i) amplifier une première séquence dudit locus de gène et une seconde séquence d'un second locus de gène de référence de l'ADN prélevée sur un échantillon contenant les substances biologiques dudit individu ou foetus, (ii) surveiller l'amplification des deux séquences, de préférence en temps réel, et déterminer la quantité de produits d'amplification après chaque cycle, et (iii) calculer le rapport entre la quantité d'ADN prélevée sur le premier gène et la quantité d'ADN prélevée sur le second gène. Cette nouvelle méthode est utile dans de nombreuses applications, notamment dans la détection d'anomalies chromosomiques dans les cellules foetales.

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