Combinations of biomarkers for methods for detecting trisomy 21
AssigneeRosetta Signaling Laboratories, LLC
InventorsCarl Philip Weiner, Yafeng Dong
Life of this patent
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Abstract
Methods for detecting a Group of Biomarkers is provided herein. The translation profile of the Group of Biomarkers can be used for determining whether a subject, such as a fetus, has Down syndrome The methods include detecting one or more specific groups of biomarkers in a biological sample, and determining whether the expression of the biomarkers is altered when compared to expression of the biomarkers in one or more subjects that do not have trisomy 21 (e.g., a transcriptional standard). The biological sample can be a blood sample, and the biomarkers are cell free plasma RNAs.
Claims20
A method comprising:
- obtaining a plasma sample from a human subject, wherein the human subject is a pregnant female;
- obtaining cell free nucleic acids from the plasma sample;
- detecting in the cell free nucleic acids the presence of a combination of nucleic acid biomarkers comprising:
- ATP5O, ICOSLG, DOP1B, PKNOX1, COL6A1, and GART,
- wherein the detecting comprises:
- contacting the cell free nucleic acids with primers or probes that are complementary to the nucleic acid biomarkers in the combination of nucleic acid biomarkers, and
- detecting hybridization between the primers or probes and the combination of nucleic acid biomarkers.
A method comprising:
- obtaining a plasma sample from a human subject, wherein the human subject is a pregnant female;
- obtaining cell free nucleic acids from the plasma sample;
- detecting in the cell free nucleic acids the presence of a combination of nucleic acid biomarkers comprising:
- ENSG00000199633 F2, hsa-mir-548I, hsa-mir-26b, hsa-mir-450b, ENSG00000212363, and GART,
- wherein the detecting comprises:
- contacting the cell free nucleic acids with primers or probes that are complementary to the nucleic acid biomarkers in the combination of nucleic acid biomarkers, and
- detecting hybridization between the primers or probes and the combination of nucleic acid biomarkers
Dependencies are inferred from the claim text.