Methods for the detection of nucleic acids
OwnerAnthony P. Shuber, Stanley N. Lapidusinventors
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Abstract
Methods are provided for identifying nucleic acids. Methods of the invention are usefull for identifying and analyzing nucleic acids, especially variants of single nucleotide polymorphisms, that are indicative of disease or the predisposition for disease.
Claims21
A method for identifying a variation in a nucleic acid in two or more samples, the method comprising the steps of:
- (a) enumerating a number of a nucleic acid in a first sample;
- (b) enumerating a number of said nucleic acid in a second sample;
- and
- (c) determining whether a statistically-significant difference exists between enumerated numbers of said nucleic acid between said first sample and said second sample;
- a statistically-significant difference being indicative of a variation in said nucleic acid between said first sample and said second sample.
A method for identifying a nucleic acid variation, the presence of which is indicative of a disease, the method comprising the steps of:
- (a) enumerating a first number of a first nucleic acid in a sample obtained from a healthy member of a population;
- (b) enumerating a second number of a second nucleic acid in a sample obtained from a member of said population having a disease;
- and
- (c) determining whether there is a statistically-significant difference between said first number and said second number, the presence of said difference being indicative that said nucleic acid variation is indicative of said disease.
A method for identifying a single nucleotide polymorphic locus as a diagnostic disease marker, the method comprising the steps of:
- (a) obtaining a first sample comprising pooled genomic DNA from healthy members of an organism population;
- (b) obtaining a second sample comprising pooled genomic DNA from diseased members of said population;
- (c) determining whether a statistically-significant difference exists between an enumerated number of a single nucleotide variant at a single nucleotide polymorphic locus in said first sample and an enumerated number of a single nucleotide variant at said locus in said second sample,
- said difference being indicative that said locus is a diagnostic marker of said disease.
A method for identifying a genomic polymorphic variant, the presence of which is a diagnostic marker for a disease, the method comprising the steps of:
- (a) determining a number of each of two or more variants at a single nucleotide polymorphic locus in pooled genomic DNA samples obtained from a statistically-significant number of members of a population;
- and
- (b) correlating each said number to the disease state of said member, a statistically-significant positive correlation between any of said variants and said disease state being indicative of a diagnostic marker for said disease.
A method for identifying a single nucleotide polymorphic locus as a diagnostic marker of a loss of heterozygosity, the method comprising the steps of:
- (a) obtaining a first sample comprising pooled genomic DNA from healthy members of an organism population;
- (b) obtaining a second sample comprising pooled genomic DNA from members of said population having a disease caused by a loss of heterozygosity in genomic DNA;
- (c) determining whether a statistically-significant difference exists between an enumerated number of a single nucleotide variant at a single nucleotide polymorphic locus in said first sample and an enumerated number of a single nucleotide variant at said locus in said second sample,
- said difference being indicative that said locus is a diagnostic marker of a loss of heterozygosity.
A method for identifying a single nucleotide polymorphic locus as a diagnostic marker for a mutation in genomic DNA, the method comprising the steps of:
- (a) obtaining a first sample comprising pooled genomic DNA from healthy members of an organism population;
- (b) obtaining a second sample comprising pooled genomic DNA from members of said population having a disease caused by a mutation in genomic DNA;
- (c) determining whether a statistically-significant difference exists between an enumerated number of a single nucleotide variant at a single nucleotide polymorphic locus in said first sample and an enumerated number of a single nucleotide variant at said locus in said second sample,
- said difference being indicative that said locus is a diagnostic marker of a mutation in genomic DNA.
A method for identifying a single nucleotide polymorphic locus as a diagnostic disease marker, the method comprising the steps of:
- (a) enumerating a first number of each of a pluarlity of suspected single nucleotide variants in a sample comprising genomic DNA pooled from members of a population each of whom do not have the disease the detection of which is desired;
- (b) enumerating a second number of each of said pluarlity of suspected single nucleotide variants in a sample comprising genomic DNA pooled from members of a population each of whom has the disease the detection of which is desired;;
- (c) determining whether a statistically-significant difference exists between said first number and said second number for each member of said plurality,
- the presence of a statistically-significant difference for any member of said plurality being indicative that said member is a diagnostic marker of said disease.
Dependencies are inferred from the claim text.