Optimizing genome-wide mutation analysis of chromosomes and genes
View Patent ↗Provided is a method of genome-wide testing of gene copy number at the genetically most important loci to determine whether the gene and/or its selected larger surrounding chromosome region is rearranged to result in an unbalanced abnormality in one or more subjects. The method includes selecting multiple gene loci of the DNAs to be examined in the test, conducting the test, and comparing the number of copies at each locus tested by quantification of total gene target number to determine the relative number of each polymorphic sequence detected to assure that each important tested sequence is distinguished from the other alleles at the same locus. A method of detecting the highest number of abnormal patients possible based upon the number of test sites available in a protocol is also provided. Depending upon the state of the life cycle, both of the methods can be done together or in sequence.
1. A method of simultaneously testing for a plurality of sets of chromosomal anomalies, each set corresponding to one or more anomalies that result in a different disease to identify the largest number of tested patients who carry one or more selected tested abnormal gene sites relative to all the tested patients for each site tested in a predefined segment of the world wide population, comprising the steps of:
providing a list ordered from the most frequently occurring to the least frequently occurring chromosomal anomalies including at least two unrelated chromosomal anomalies that result in the different genetic diseases, wherein the different genetic diseases are being derived from the list beginning with the most frequently occurring chromosomal anomaly in the predefined segment of the world wide population;
selecting a threshold of the chromosomal anomaly occurrence with respect to the predefined segment of the world wide population;
selecting the at least two unrelated chromosomal anomalies for testing when the frequency of occurrence of the chromosomal anomaly in the predefined segment of the world wide population exceeds the threshold;
providing a sample of DNA for testing; and,
simultaneously testing the sample for the presence of the selected at least two unrelated chromosomal anomalies,
wherein said sample of DNA for testing is taken from a point in a life cycle.
2. The method of claim 1 , wherein the step of providing a list beginning with the most frequently occurring to the least frequently occurring chromosomal anomalies comprises:
formulating a multiplicative product of the frequency of occurrence of the genetic disease in the predefined segment of the world wide population times a proportion of the total number of chromosomal abnormalities tested in the selected gene site.
3. The method of claim 1 , wherein the step of simultaneously testing the sample for the presence of the selected at least two chromosomal anomalies, further comprises the step of:
simultaneously testing the sample for the presence of the selected at least twenty chromosomal anomalies.
4. The method of claim 1 , wherein the step of simultaneously testing the sample for the presence of the selected at least two chromosomal anomalies, further comprises the step of:
simultaneously testing the sample for the presence of the selected at least thirty chromosomal anomalies.
5. The method of claim 1 , wherein the step of simultaneously testing the sample for the presence of the selected at least two chromosomal anomalies, further comprises the step of:
simultaneously testing the sample for the presence of the selected at least thirty-seven chromosomal anomalies.
6. The method of claim 1 , wherein the step of simultaneously testing the sample for the presence of the selected at least two chromosomal anomalies, further comprises the step of:
simultaneously testing the sample for the presence of the selected at least three chromosomal anomalies.
7. The method of claim 1 , wherein the step of simultaneously testing the sample for the presence of the selected at least two chromosomal anomalies, further comprises the step of:
simultaneously testing the sample for the presence of the selected at least six chromosomal anomalies.
8. A method of simultaneously testing for a plurality of sets of chromosomal anomalies, each set corresponding to one or more anomalies and mutations that result in a different disease to identify the largest number of tested patients who carry one or more selected tested abnormal gene sites relative to all the tested patients for each site tested in a predefined segment of the world wide population, comprising the steps of:
providing a list ordered from the most frequently occurring to the least frequently occurring chromosomal anomalies including at least two chromosomal anomalies that result in the different genetic diseases, wherein the different genetic diseases are being derived from the list beginning with the most frequently occurring chromosomal anomaly in the predefined segment of the world wide population;
selecting a threshold of the chromosomal anomaly occurrence with respect to the predefined segment of the world wide population;
selecting the at least two chromosomal anomalies for testing when the frequency of occurrence of the chromosomal anomaly and gene mutation in the predefined segment of the world wide population exceeds the threshold;
providing a sample of DNA for testing; and,
simultaneously testing the sample for the presence of the selected at least two chromosomal anomalies.
9. The method of claim 8 , wherein the step providing a list ordered from the most frequently occurring to the least frequently occurring chromosomal anomalies and gene mutations comprises:
formulating a multiplicative product of the frequency of occurrence of the genetic disease in the predefined segment of the world wide population times the proportion of the total number of chromosomal abnormalities and gene mutations tested in the selected gene site.
10. The method of claim 8 , wherein the step of simultaneously testing the sample for the presence of the selected at least two chromosomal anomalies, further comprises the step of:
simultaneously testing the sample for the presence of the selected at least twenty chromosomal anomalies.
11. The method of claim 8 , wherein the step of simultaneously testing the sample for the presence of the selected at least two chromosomal anomalies, further comprises the step of:
simultaneously testing the sample for the presence of the selected at least thirty chromosomal anomalies.
12. The method of claim 8 , wherein the step of simultaneously testing the sample for the presence of the selected at least two chromosomal anomalies, further comprises the step of:
simultaneously testing the sample for the presence of the selected at least thirty-seven chromosomal anomalies.
13. The method of claim 8 , wherein the step of simultaneously testing the sample for the presence of the selected at least two chromosomal anomalies, further comprises the step of:
simultaneously testing the sample for the presence of the selected at least three chromosomal anomalies.
14. The method of claim 8 , wherein the step of simultaneously testing the sample for the presence of the selected at least two chromosomal anomalies, further comprises the step of:
simultaneously testing the sample for the presence of the selected at least six chromosomal anomalies.
15. The method of claim 8 wherein the at least two chromosomal anomalies are unrelated.
16. The method of claim 8 , wherein each of the chromosomal anomalies in the list cause genetic disease for the predefined segment of the world wide population.