Intron associated with myotonic dystrophy type 2 and methods of use
First Claim
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1. A method for detecting a polynucleotide comprising a repeat tract within an intron 1 of a zinc finger protein 9 (ZNF9) genomic sequence, the method comprising:
- amplifying nucleotides of an intron 1 region of a ZNF9 genomic sequence to form amplified polynucleotides, wherein the amplified polynucleotides comprise repeat tracts; and
detecting the amplified polynucleotides.
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Abstract
The present invention provides methods for identifying individuals not at risk for developing myotonic dystrophy type 2 (DM2), and individuals that have or are at risk for developing DM2. The present invention also provides isolated polynucleotides that include a repeat tract within intron 1 of the zinc finger protein 9.
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Citations
33 Claims
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1. A method for detecting a polynucleotide comprising a repeat tract within an intron 1 of a zinc finger protein 9 (ZNF9) genomic sequence, the method comprising:
amplifying nucleotides of an intron 1 region of a ZNF9 genomic sequence to form amplified polynucleotides, wherein the amplified polynucleotides comprise repeat tracts; and
detecting the amplified polynucleotides.- View Dependent Claims (12, 13, 14, 15, 16, 17, 18)
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2. A method for detecting a polynucleotide comprising a repeat tract within an intron 1 of a ZNF9 genomic sequence, the method comprising:
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digesting genomic DNA with a restriction endonuclease to obtain polynucleotides;
probing the polynucleotides under hybridizing conditions with a detectably labeled probe which hybridizes to a polynucleotide containing a repeat tract within an intron 1 of a ZNF9 genomic sequence; and
detecting the probe which has hybridized to the polynucleotides. - View Dependent Claims (19, 20)
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3. A method for identifying an individual not at risk for developing myotonic dystrophy type 2 (DM2), the method comprising:
analyzing intron 1 regions of ZNF9 genomic sequences of an individual for two not at risk alleles comprising repeat tracts of no greater than about 176 nucleotides, wherein an individual comprising two alleles comprising repeat tracts of no greater than about 176 nucleotides is not at risk for developing DM2.
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4. A method for identifying an individual not at risk for developing DM2, the method comprising:
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amplifying nucleotides of intron 1 regions of ZNF9 genomic sequences of an individual to form amplified polynucleotides, wherein the amplified polynucleotides comprise repeat tracts;
comparing the size of the amplified polynucleotides; and
analyzing the amplified polynucleotides for two not at risk alleles wherein an individual comprising two not at risk alleles is not at risk for developing DM2. - View Dependent Claims (5, 21, 22)
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6. A method for identifying an individual not at risk for developing DM2, the method comprising:
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amplifying nucleotides of intron 1 regions within ZNF9 genomic sequences of an individual to form amplified polynucleotides, wherein the amplified polynucleotides comprise repeat tracts; and
analyzing the repeat tracts of the amplified polynucleotides for two not at risk alleles comprising repeat tracts of no greater than about 176 nucleotides, wherein an individual comprising two alleles comprising repeat tracts of no greater than about 176 nucleotides is not at risk for developing DM2. - View Dependent Claims (23, 24, 25)
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7. A method for identifying an individual that has DM2 or is at risk for developing DM2, the method comprising:
analyzing an intron 1 region of a ZNF9 genomic sequence of an individual for one at risk allele comprising a repeat tract comprising at least about 75 CCTG repeats wherein an individual comprising one allele comnrising a repeat tract of at least about 75 CCTG repeats has DM2 or is at risk for developing DM2.
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8. A method for identifying an individual that has DM2 or is at risk for developing DM2, the method comprising:
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digesting genomic DNA of an individual with a restriction endonuclease to obtain polynucleotides;
probing the polynucleotides under hybridizing conditions with a detectably labeled probe that hybridizes to a polynucleotide containing a repeat tract within an intron 1 of a ZNF9 genomic sequence;
detecting the probe that has hybridized to the polynucleotide; and
analyzing the intron 1 region of the hybridized polynucleotide for one at risk allele comprising a repeat tract comprising at least about 75 CCTG repeats, wherein an individual comprising one allele comprising a repeat tract of at least about 75 CCTG repeats has DM2 or is at risk for developing DM2. - View Dependent Claims (9, 26)
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10. A method for identifying an individual that has or is at risk for developing DM2, the method comprising:
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amplifying nucleotides of an intron 1 region of a ZNF9 genomic sequence of an individual to form amplified polynucleotides, wherein the amplified polynucleotides comprise a repeat tract; and
analyzing the repeat tracts of the amplified polynucleotides for one at risk allele comprising a repeat tract comprising at least about 75 CCTG repeats, wherein an individual comprising one at risk allele comnrising a repeat tract of at least about 75 CCTG reoeats has or is at risk for develoDing DM2. - View Dependent Claims (11, 27, 28)
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29. A method for identifying an individual not at risk for developing DM2, the method comprising:
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amplifying nucleotides of intron 1 regions of ZNF9 genomic sequences of an individual to form amplified polynucleotides, wherein the amplified polynucleotides comprise repeat tracts; and
comparing the size of the amplified polynucleotides, wherein the presence of two amplified polynucleotides indicates the individual is not at risk for developing DM2.
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30. A method for identifying an individual that has DM2 or is at risk for developing DM2, the method comprising:
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providing a tissue sample from an individual;
probing the tissue sample under hybridizing conditions with a detectably labeled probe which hybridizes to a polynucleotide containing a repeat tract within an intron 1 of a ZNF9 genomic sequence;
detecting the probe which has hybridized to polynucleotides present in the tissue sample; and
observing nuclei of cells present in the tissue sample, wherein the presence of the detectably labeled probe in nuclei of the cells indicates the individual has or is at risk for developing DM2. - View Dependent Claims (31)
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32. A method for identifying an individual that is not at risk for developing DM2, the method comprising:
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providing a tissue sample from an individual;
probing the tissue sample under hybridizing conditions with a detectably labeled probe which hybridizes to a polynucleotide containing a repeat tract within an intron 1 of a ZNF9 genomic sequence;
detecting the probe which has hybridized to polynucleotides present in the tissue sample; and
observing nuclei of cells present in the tissue sample, wherein the absence of the detectably labeled probe in nuclei of the cells indicates the individual is not at risk for developing DM2. - View Dependent Claims (33)
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Specification