Subtelomeric DNA probes and method of producing the same
First Claim
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1. A subtelomeric probe useful for detecting chromosomal rearrangements comprising:
- a single copy DNA sequence having a length of less than 25 kb, said sequence being capable of hybridizing to the terminal G-band or R-band of an arm of a single chromosome.
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Abstract
The present invention provides subtelomeric probes and primer pairs which can be used to develop subtelomeric probes as well as methods of making and using the same. Advantageously, the probes are located in close proximity to the telomere of a chromosome and are generally much smaller than currently available probes.
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Citations
40 Claims
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1. A subtelomeric probe useful for detecting chromosomal rearrangements comprising:
a single copy DNA sequence having a length of less than 25 kb, said sequence being capable of hybridizing to the terminal G-band or R-band of an arm of a single chromosome. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11)
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12. A method of developing single copy DNA sequence probes from subtelomeric regions of chromosomes, said probes being able to hybridize to a single location in the genome, said method comprising the steps of:
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searching the DNA sequence of said chromosome on a nucleotide-by-nucleotide basis beginning at the terminal nucleotide for a single copy interval of at least 500 base pairs in length that is closest to said terminal nucleotide;
identifying said single copy interval;
synthesizing said single copy interval; and
using said synthesized single copy interval as said probes. - View Dependent Claims (13, 14, 15, 16, 17, 18, 19)
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- 20. A synthetic single copy polynucleotide for identifying chromosomal rearrangements, said polynucleotide being located within 8,000 kb of the terminal nucleotide of a chromosome and hybridizing to a single location on a specific chromosome when no chromosomal rearrangement has occurred, said polynucleotide having a length of less than 25 kb.
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26. An oligonucleotide primer pair used for deriving single copy probes that can detect chromosomal rearrangements, said primers comprising:
a sequence selected from the group consisting of SEQ ID NOS. 83-244.
- 27. An improved synthetic DNA probe operable for detecting chromosomal rearrangements, said probe including a DNA sequence operable to hybridize to a precise location on a single chromosome arm wherein the improvement comprises a probe of less than 25 kb in length.
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34. A method of screening an individual for cytogenetic abnormalities, said individual having either idiopathic mental retardation or mental retardation and at least one other clinical abnormality or cancer said method comprising the steps of:
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screening the genome of the individual using a plurality of hybridization probes, each of said probes having a length of less than about 25 kb; and
detecting hybridization patterns of said probes, said hybridization patterns indicating cytogenetic abnormalities in said genome. - View Dependent Claims (35, 36)
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37. A method of delineating the extent of a chromosome imbalance comprising the steps of:
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assaying a chromosome arm using at least one hybridization probe having a length of less than about 25 kb;
detecting hybridization patterns of said probes on said arm; and
comparing said hybridization patterns with a standard genome map of said arm in order to delineate the extent of a chromosome imbalance. - View Dependent Claims (38, 39, 40)
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Specification