Methods of detecting spinocerebellar Ataxia-2 nucleic acids
First Claim
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1. A method for determining whether a human is negative for 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 193 to 264 of SEQ ID NO;
1 and said second primer hybridizes to a region of nucleotides 333 to 509 of SEQ ID NO;
1 obtaining an amplification product of said nucleic acid sample by said polymerase chain reaction; and
measuring a number of CAG repeals in said amplification product, wherein 22 CAG repeats in said nucleic acid sample would be negative for spinocerebellar Ataxia type 2.
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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.
20 Citations
4 Claims
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1. A method for determining whether a human is negative for spinocerebellar ataxia type 2 in a human nucleic acid sample comprising the steps of:
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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 193 to 264 of SEQ ID NO;
1 and said second primer hybridizes to a region of nucleotides 333 to 509 of SEQ ID NO;
1obtaining an amplification product of said nucleic acid sample by said polymerase chain reaction; and
measuring a number of CAG repeals in said amplification product, wherein 22 CAG repeats in said nucleic acid sample would be negative for spinocerebellar Ataxia type 2.
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2. A method for detecting the presence of a nucleic acid molecule comprising obtaining a human nucleic acid sample and detecting the presence of the nucleic acid molecule represented by SEQ ID NO:
- 1 in a human nucleic acid sample.
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3. A method for detecting the presence of CAG repeated comprising obtaining a human nucleic acid sample and detecting the presence of a CAG repeated in the nucleic acid molecule represented by SEQ ID NO:
- 1 in a human nucleic acid sample.
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4. A method for detecting the presence of a CAG repeat comprising obtaining a human nucleic acid sample and detecting the presence of a 45 CAG repeat in the nucleic acid molecule represented by SEQ ID NO:
- 1 in a human nucleic acid sample.
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Current AssigneeCedars-Sinai Medical Center (Cedars Sinai Health System)
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Original AssigneeCedars-Sinai Medical Center (Cedars Sinai Health System)
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InventorsPulst, Stefan M.
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Primary Examiner(s)Fredman, Jeffrey
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Assistant Examiner(s)Goldberg, Jeanine
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Application NumberUS09/083,268Time in Patent Office2,055 DaysField of Search536/23.1, 536/24.33, 536/24.31, 435/6, 435/320.1, 435/325, 435/91.2US Class Current435/6.18CPC Class CodesA01K 2217/05 Animals comprising random i...C07K 14/47 from mammalsC12Q 1/6883 for diseases caused by alte...C12Q 2600/156 Polymorphic or mutational m...
