Methods for disease detection
View Patent ↗The present invention provides methods for detecting disease by analysis of a patient sample to determine the integrity of nucleic acids in the sample.
1. A method of detecting fetal abnormality, the method comprising the steps of:
conducting a plurality of amplification reactions on a nucleic acid to produce a plurality of nucleic acid fragments of different lengths, wherein the nucleic acid is obtained from maternal blood comprising fetal cells or fetal cellular debris;
qualitatively determining amplification level in the plurality of amplification reactions; and
identifying fetal abnormality if the qualitative amplification level is greater than a pre-determined threshold level.
2. The method of claim 1 , wherein the fetal abnormality is associated with genomic instability.
3. The method of claim 1 , wherein the step of qualitatively determining comprises:
assigning a binary score to each reaction such that the binary score indicates if a positive amplification takes place; and
determining a total score indicative of the amplification level for the plurality of amplification reactions based on the binary score in each reaction.
4. The method of claim 1 , wherein the plurality of amplification reactions are conducted at a single genomic locus.
5. The method claim 1 , wherein the plurality of amplification reactions are conducted on a plurality of different genomic loci.
6. The method of claim 1 , wherein the pre-determined threshold level is the level of amplification determined in a normal sample.
7. The method of claim 1 , wherein at least one amplified nucleic acid fragment is at least 200 bp in length.
8. The method of claim 1 , wherein at least one amplified nucleic acid fragment is at least 400 bp in length.
9. The method of claim 1 , wherein at least one amplified nucleic acid fragment is at least 800 bp in length.
10. The method of claim 1 , wherein at least one amplified nucleic acid fragment is at least 1.3 Kb in length.
11. The method of claim 1 , wherein at least one amplified nucleic acid fragment is at least 1.8 Kb in length.
12. The method of claim 1 , wherein at least one amplified nucleic acid fragment is at least 2.4 Kb in length.