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US 5,580,728 AGranted
Method and system for genotyping
OwnerMark W. Perlininventor
Life of this patent
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Abstract
The present invention pertains to a process which can be fully automated for accurately determining the alleles of STR genetic markers. More specifically, the present invention is related to performing PCR amplification on a location of DNA, labelling the PCR products, converting the labels into a signal, removing a reproducible PCR stutter pattern from the signal by means of a computational device, and then determining the genotype of the location of the DNA. The invention also pertains to genetics applications and systems which can effectively use this genotyping information.
Claims22
A method for genotyping comprised of the steps:
- (a) obtaining DNA or RNA material from a genome;
- (b) amplifying a location of the material, with the length of the location not exceeding fifty kilobases and the location containing a multinucleotide repeat region;
- (c) labelling the amplified material with labels;
- (d) converting the labels with a sensing device which produces a first electrical signal;
- (e) removing a reproducible pattern of the amplification from the first electrical signal using a program residing in the memory of a computer to form a third electrical signal:
- and
- (f) producing from the third electrical signal a genotype of the material at the location.
4 more elements
A system for genotyping comprising:
- (a) means for obtaining DNA or RNA material from a genome;
- (b) means for amplifying a location of the material, with the length of the location not exceeding fifty kilobases and the location containing a multinucleotide repeat region, said amplifying means in communication with the DNA or RNA material;
- (c) means for labelling the amplified material with labels, said labelling means in communication with amplified material;
- (d) means for converting the labels with a sensing device which produces a first electrical signal, said converting means in communication with the labelling means;
- (e) means for removing a reproducible pattern of the amplification from the first electrical signal using a program residing in the memory of a computer to form a third electrical signal, said removing means in communication with the first electrical signal;
- and
- (f) means for producing from the third electrical signal a genotype of the material at the location, said producing means in communication with the removing means.
4 more elements
A method for analyzing genetic material of an organism comprising the steps of:
- (a) obtaining DNA or RNA material from the organism;
- (b) amplifying a location of the material, with the length of the location not exceeding fifty kilobases and the location containing a multinucleotide repeat region;
- (c) labelling the amplified material with labels;
- (d) converting the labels with a sensing device which produces a first electrical signal;
- and
- (e) producing the genotype of an amplified location of the genetic material in an electronic acquisition system comprising a region having a radius of less than five feet at a rate exceeding 100 genotypes per hour per organism.
3 more elements
A method for identifying and isolating a gene comprising the steps of:
- (a) obtaining DNA or RNA materials from genomes of a first set of individuals expressing a trait, and possibly of a second set of individuals whose members may be biologically related to a member of the first set of individuals;
- (b) amplifying a location of the materials, with the length of the location not exceeding fifty kilobases and the location containing a multinucleotide repeat region;
- (c) labelling the amplified material with labels;
- (d) converting the labels with a sensing device which produces a first electrical signal;
- (e) removing reproducible patterns of the amplifications from the first electrical signal using a program residing in the memory of a computer to form a third electrical signal;
- (f) producing from the third electrical signal a genotype of the material at the location;
- (g) identifying and isolating a gene linked to said trait by positional cloning;
- (h) determining the DNA sequence of the gene;
- (i) analyzing mutations in the genome of the first or second sets of individuals;
- (j) verifying that the gene is causative or tightly linked to the trait by said analysis of mutations;
- and
- (k) purifying derivatives of the gene that share at least 85% homology with the gene sequence.
9 more elements
A system for genotyping comprising:
- (a) mechanism for obtaining DNA or RNA material from a genome;
- (b) mechanism for amplifying a location of the material, with the length of the location not exceeding fifty kilobases and the location containing a multinucleotide repeat region, said amplifying mechanism in communication with the DNA or RNA material;
- (c) mechanism for labelling the amplified material with labels, said labelling mechanism in communication with amplified material;
- (d) mechanism for converting the labels with a sensing device which produces a first electrical signal, said converting mechanism in communication with the labelling mechanism;
- (e) mechanism for removing a reproducible pattern of the amplification from the first electrical signal using a program residing in the memory of a computer to form a third electrical signal, said removing mechanism in communication with the first electrical signal;
- and
- (f) mechanism for producing from the third electrical signal a genotype of the material at the location, said producing mechanism in communication with the removing mechanism.
4 more elements
Dependencies are inferred from the claim text.