Nucleic acid encoding spinocerebellar ataxia-2 and products related thereto
AssigneeCedars-Sinai Medical Center
InventorStefan Pulst
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Abstract
The present invention provides isolated nucleic acids encoding human SCA2 protein, or fragments thereof, and isolated SCA2 proteins encoded thereby. Further provided are vectors containing invention nucleic acids, probes that hybridize thereto, host cells transformed therewith, antisense oligonucleotides thereto and compositions containing antibodies that specifically bind to invention polypeptides, as well as transgenic non-human mammals that express the invention protein. In addition, methods for diagnosing spinocerebellar Ataxia Type 2 are provided.
Claims41
Isolated nucleic acid encoding a mammalian SCA2 polypeptide.
An isolated oligonucleotide comprising at least 15 nucleotides capable of specifically hybridizing with a sequence of nucleic acids of the nucleotide sequence set forth in SEQ ID NO:2 or the nucleotide sequence set forth in SEQ ID NO:4.
An isolated nucleic acid comprising nucleotides 163-657 of SEQ ID NO:2.
An isolated nucleic acid comprising nucleotides 724-4098 of SEQ ID NO:2.
An isolated nucleic acid comprising at least about 15 contiguous nucleotides from nucleotides 163-657 of SEQ ID NO:2, or the nucleotides complementary thereto.
An isolated nucleic acid consisting of at least about 15 continuous nucleotide from nucleotides 724-4098 of SEQ ID NO:2, or the nucleotides complementary thereto.
An isolated nucleic acid comprising nucleotides 163-4098 of SEQ ID NO:2.
An isolated nucleic acid comprising SEQ ID NO:4.
A method of detecting the presence or absence of a CAG repeat region in the SCA2 gene on human chromosome 12 at locus q 24.1 in an individual comprising the steps of obtaining a nucleic acid sample from an individual and detecting the presence of the CAG repeat region in the sample.
A method of diagnosing spinocerebellar ataxia type 2 in a human nucleic acid sample comprising the steps of:
- amplifying said nucleic acid sample with a first primer and a second primer by polymerase chain reaction, wherein said first primer hybridizes to a region of nucleotides 303 to 657 of SEQ ID NO:2 and said second primer hybridizes to a region of nucleotides 723 to 890 of SEQ ID NO:2;
- obtaining an amplification product of said nucleic acid sample by said polymerase chain reaction;
- and
- measuring a number of CAG repeats in said amplification product,
- wherein a normal number of CAG repeats in said nucleic acid sample would be negative for spinocerebellar ataxia type 2.
A method of diagnosing spinocerebellar ataxia type 2 in a human nucleic acid sample comprising the steps of:
- amplifying said nucleic acid sample with a first primer and a second primer by polymerase chain reaction, wherein said first primer hybridizes to a region of nucleotides 303 to 657 of SEQ ID NO:2 and said second primer hybridizes to a region of nucleotides 723 to 890 of SEQ ID NO:2;
- obtaining an amplification product of said nucleic acid sample by said polymerase chain reaction;
- and
- measuring a number of CAG repeats in said amplification product,
- wherein a number of 35 or more CAG repeats in said nucleic acid sample would be indicative of said spinocerebellar ataxia type 2 and a number of 15-24 CAG repeats in said nucleic acid sample would be negative for spinocerebellar ataxia type 2.
A method of diagnosing SCA2 in a human sample comprising identifying the presence of a CAG repeat in a nucleic acid sample from chromosome 12 at locus q 24.1, wherein the presence of a larger number of CAG repeats than exists in a normal population is indicative of SCA2.
A method of diagnosing spinocerebellar ataxia type 2 in a human nucleic acid sample comprising the steps of:
- amplifying said nucleic acid sample with a first primer and a second primer by polymerase chain reaction, wherein said first primer hybridizes to a region of nucleotides 163 to 657 of SEQ ID NO:2 and said second primer hybridizes to a region of nucleotides 724-4098 of SEQ ID NO:2;
- obtaining an amplification product of said nucleic acid sample by said polymerase chain reaction;
- and
- measuring a number of CAG repeats in said amplification product,
- wherein thirty-two or more CAG repeats in said nucleic acid sample is indicative of said spinocerebellar ataxia type 2 and a normal number of CAG repeats in said nucleic acid sample would be negative for spinocerebellar ataxia type 2.
A method of diagnosing SCA2 in a human sample comprising obtaining a nucleic acid sample from a human and identifying the presence of a CAG repeat in a nucleic acid sample from chromosome 12 at locus q 24.1, wherein the presence of a larger number of CAG repeats than exists in a normal population is indicative of SCA2.
Dependencies are inferred from the claim text.