C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01)
Patent
CA 2601221
The non-invasive detection of fetal chromosomal aneuploidies is demonstrated. Alleles of fetal RNA-SNPs present in a biological sample (e.g. maternal blood) containing fetal RNA are detected and quantified in order to determine the ratio of the alleles. This ratio is compared to a standard control consisting of euploid fetuses. Deviation of allele ratio indicates the presence of chromosomal aneuploidy.
Cette invention se rapporte à la démonstration de la détection non-invasive des aneuploïdies chromosomiques fAEtales. Des allèles d~ARN-SNP de fAEtus présents dans un échantillon biologique (à savoir du sang maternel) contenant un ARN fAEtal sont détectés et quantifiés de façon à déterminer la proportion d~allèles. Cette proportion est comparée à un contrôle standard consistant en fAEtus euploïdes. L~écart relatif à la proportion d~allèles indique la présence d~aneuploïdie chromosomique.
Cantor Charles
Chiu Rossa Wai Kwun
Ding Chunming
Lo Yuk-Ming Dennis
Tsui Bo Yin
Boston University
Sim & Mcburney
The Chinese University Of Hong Kong
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