Rare cell analysis using sample splitting and dna tags

C - Chemistry – Metallurgy – 12 – Q

Patent

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C12Q 1/68 (2006.01) G06F 19/18 (2011.01) C12P 19/34 (2006.01)

Patent

CA 2655272

The present invention provides systems, apparatuses, and methods to detect the presence of fetal cells when mixed with a population of maternal cells in a sample and to test fetal abnormalities, e.g. aneuploidy. The present invention involves labeling regions of genomic DNA in each cell in said mixed sample with different labels wherein each label is specific to each cell and quantifying the labeled regions of genomic DNA from each cell in the mixed sample. More particularly the invention involves quantifying labeled DNA polymorphisms from each cell in the mixed sample.

La présente invention propose des systèmes, des appareils et des procédés pour détecter la présence de cellules foetales lorsqu'elles sont mélangées avec une population de cellules maternelles dans un échantillon afin de tester des anomalies foetales, par exemple l'aneuploïdie. La présente invention recourt au marquage par différents marqueurs des régions de l'ADN génomique de chaque cellule dans ledit échantillon mélangé, chaque marqueur étant spécifique à chaque cellule, et à la quantification des régions marquées de l'ADN génomique de chaque cellule dans l'échantillon mélangé. Plus particulièrement, l'invention recourt à la quantification des polymorphismes de l'ADN marqué de chaque cellule dans l'échantillon mélangé.

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