Combinations of biomarkers for methods for detecting trisomy 21
AssigneeRosetta Signaling Laboratories, LLC
InventorsCarl Philip Weiner, Yafeng Dong
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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.
Claims12
A method of detecting a combination of ribonucleic acid (RNA) biomarkers, the 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, wherein the cell free nucleic acids are cell free ribonucleic acids (RNA);
- detecting in the cell free RNA the presence of the combination of RNA biomarkers,
- wherein the detecting comprises:
- contacting the cell free RNA with a combination of primers or probes that are complementary to the combination of RNA biomarkers, and
- detecting hybridization between the primers or probes and the combination of RNA biomarkers,
- wherein the combination of RNA biomarkers used in the method consists of:
- ATP5O, ICOSLG, DOP1B, PKNOX1, COL6A1, and GART.
A method of detecting a combination of ribonucleic acid (RNA) biomarkers, the 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, wherein the cell free nucleic acids are cell free ribonucleic acids (RNA);
- detecting in the cell free RNA the presence of the combination of RNA biomarkers,
- wherein the detecting comprises:
- contacting the cell free RNA with a combination of primers or probes that are complementary to the combination of RNA biomarkers, and
- detecting hybridization between the primers or probes and the combination of RNA biomarkers,
- wherein the combination of RNA biomarkers used in the method consists of:
- RASGRP4, FAM20A, NEK9, ABCC1, SORBS2, TMPRSS2, DSCAM, ERG, ICOSLG, C21orf33, ADAMTS5, CXADR, NCAM2, UBASH3A, PFKL, CHODL, CYYR1, SLC19A1, PRDM15, COL6A1, and ABCG1.
A method of detecting a combination of ribonucleic acid (RNA) biomarkers, the 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, wherein the cell free nucleic acids are cell free ribonucleic acids (RNA);
- detecting in the cell free RNA the presence of the combination of RNA biomarkers,
- wherein the detecting comprises:
- contacting the cell free RNA with a combination of primers or probes that are complementary to the combination of RNA biomarkers, and
- detecting hybridization between the primers or probes and the combination of RNA biomarkers,
- wherein the combination of RNA biomarkers used in the method consists of:
- ATP5O, ICOSLG, DOP1B, PKNOX1, COL6A1, GART, RASGRP4, FAM20A, NEK9, ABCC1, SORBS2, TMPRSS2, DSCAM, ERG, ICOSLG, C21orf33, ADAMTS5, CXADR, NCAM2, UBASH3A, PFKL, CHODL, CYYR1, SLC19A1, PRDM15, COL6A1, and ABCG1.
Dependencies are inferred from the claim text.