Back to results
US 2014/0272954 A1Published application
Methods and systems for electronic karyotyping
AssigneeNABsys, Inc.
InventorsStan Rose, Ulrich Broeckel
Life of this patent
Estimating the term…
Abstract
Embodiments of the present invention relate to a method for producing patterns of sequence specific markers on a chromosomal segment. By comparing these patterns to those produced on a reference chromosome, various genetic abnormalities can be detected.
Claims19
A method for analyzing chromosomal segments, the method comprising comprises the steps of:
- a) providing a chromosomal segment to be analyzed,
- b) providing at least one sequence-specific marker set, each marker within the set binding or otherwise locating at a sequence-specific location on the segment to be analyzed,
- c) allowing the one or more marker sets to bind or otherwise locate on the chromosomal segment to form an analyte,
- d) introducing the analyte into a device comprising a nanodetector;
- e) translocating the analyte through the nanodetector,
- f) monitoring changes in an electrical property as the analyte translocates through the nanodetector, such changes indicative of at least one of i) no chromosomal segment present in the nanodetector, ii) a portion of the chromosomal segment lacking a marker present in the nanodetector, or iii) a portion of the chromosomal segment having a marker present in the nanodetector, and
- g) recording the changes in the electrical property relative to their positions on the analyte to form a pattern distinctive of the chromosomal segment.
4 more elements
A method for analyzing structural variation in genomes, the method comprising the steps of:
- a) isolating DNA representing an entire genome or a portion thereof to be analyzed;
- b) providing at least one sequence-specific marker set, with each marker in the set capable of binding to or otherwise locating at a specific sequence that appears one or more times in the isolated DNA;
- c) allowing the one or more marker sets to bind or otherwise locate on the isolated DNA to form an analyte;
- d) introducing the analyte into a device comprising a nanodetector having a detection volume;
- e) translocating the analyte through the detection volume of the nanodetector,
- f) monitoring changes in an electrical property as the analyte translocates through a detection volume in the nanodetector, such changes indicative of i) no DNA segment present in the detection volume, ii) a DNA segment lacking a marker present in the detection volume, and iii) a DNA segment having a marker present in the detection volume;
- g) recording the changes in the electrical property relative to their positions on the analyte, thereby revealing a pattern of changes in the electrical signal that is related to the positions at which markers are present on the isolated DNA;
- and
- h) comparing the pattern to analogous patterns from control and test samples to reveal differences that are indicative of specific abnormalities or structural variations in the test sample.
6 more elements
Dependencies are inferred from the claim text.