Processes and Compositions for Methylation-Based Enrichment of Nucleic Acid From a Sample Useful for Non-Invasive Diagnosis of Disease
AssigneeSequenom, Inc.
InventorsJohn Allen Tynan, Grant Hogg
Life of this patent
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Abstract
Provided are compositions and processes that utilize genomic regions that are differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are particularly useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuploidies.
Claims12
(canceled)
A method for detecting the presence or absence of a chromosomal abnormality by analyzing the amount or copy number of a target nucleic acid and a control nucleic acid from a sample of differentially methylated nucleic acids comprising the steps of:
- (a) enriching both a target nucleic acid and a control nucleic acid from the sample based on a methylation state for both the target and control nucleic acid;
- (b) performing a copy number analysis of the enriched target nucleic acid in at least one of the fractions;
- (c) performing a copy number analysis of the enriched control nucleic acid in at least one of the fractions;
- (d) comparing the copy number from step (b) with the copy number from step (c);
- and
- (e) determining if a chromosomal abnormality exists based on the comparison in step (d), wherein the target nucleic acid and control nucleic acid have the same or substantially the same methylation status.
Dependencies are inferred from the claim text.