Identification of alleles
First Claim
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1. A method to determine a nucleotide at a polymorphic locus in a nucleic acid sample, comprising the steps of:
- amplifying a region of DNA comprising a polymorphic locus in the sample to form amplified DNA products using a primer which terminates at its 3′
end at the polymorphic locus, wherein the primer comprises a 3′
portion which is complementary to the region of DNA and a 5′
portion which is identical in sequence to all or part of a probe on a solid support and not complementary to the region of DNA;
labeling the amplified DNA products to form labeled amplified DNA products;
hybridizing the labeled amplified DNA products to the probe on the solid support.
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Abstract
A method for determining the genotype of one or more individuals at a polymorphic locus employs amplification of a region of DNA using primers containing tags and hybridization of the products to one or more probes on a solid support. The genotype or ratio of alleles is identified from the pattern of hybridization. The method can also be used to determine the frequency of different alleles in a population.
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Citations
22 Claims
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1. A method to determine a nucleotide at a polymorphic locus in a nucleic acid sample, comprising the steps of:
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amplifying a region of DNA comprising a polymorphic locus in the sample to form amplified DNA products using a primer which terminates at its 3′
end at the polymorphic locus, wherein the primer comprises a 3′
portion which is complementary to the region of DNA and a 5′
portion which is identical in sequence to all or part of a probe on a solid support and not complementary to the region of DNA;
labeling the amplified DNA products to form labeled amplified DNA products;
hybridizing the labeled amplified DNA products to the probe on the solid support. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16)
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17. A pair of primers which specifically amplify an allelic form of a polymorphic locus wherein a first primer comprises a 3′
- portion and a 5′
portion, wherein the 3′
portion is complementary to a region of DNA comprising the polymorphic locus and the 5′
portion is identical in sequence to all or part of a probe on a solid support which is not complementary to the region of DNA, wherein the first primer terminates in a 3′
nucleotide which is complementary to a selected allelic form of the polymorphic locus. - View Dependent Claims (18, 19, 20, 21, 22)
- portion and a 5′
Specification