Optimizing genome-wide mutation analysis of chromosomes and genes
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, said method including selecting multiple gene loci of said DNAs to be examined in said test, conducting said 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 including selecting the most common genetic disease-causing mutations in a population by frequency, selecting and identifying the most common mutations in each by frequencies, multiplying the two frequencies together to get a frequency product which is the frequency of each mutation in the population, and ordering the frequency products beginning with the most common to prioritize which are the most common to detect the largest number of genetic abnormalities possible per test. Depending upon the stage of the life cycle, both of the methods can be done together or in sequence.
1 - 51 . (canceled)
52 . A method for conducting a genome-wide test of an associated patient for use in detecting genotypic abnormalities, the steps comprising:
providing a group of genotypic abnormalities comprising:
aneuploidy of chromosomal regions and partial chromosome imbalances and common gene mutations;
identifying at least a first characteristic of the associated patient;
providing a testing means for determining the presence of one or more of the genotypic abnormalities, wherein the testing means selectively comprises a plurality of nucleic acid primers;
selecting a predetermined plurality of nucleic acid primers based upon the at least a first characteristic of the associated patient;
providing a sample of DNA from the associated patient; and,
simultaneously conducting a quantification test for use in detecting one or more of the genotypic abnormalities.
53 . The method of claim 52 , wherein the step of identifying at least a first characteristic of the associated patient, comprises the step of:
identifying at least a first demographic characteristic of the associated patient.
54 . The method of claim 52 , wherein the step of identifying at least a first characteristic of the associated patient, comprises the step of:
identifying at least a first phenotypic characteristic of the associated patient.
55 . The method of claim 52 , wherein the step of identifying at least a first characteristic of the associated patient, comprises the step of:
identifying one of either the associated patient age or ethnic origin.