Method for diagnosing spinocerebellar ataxia type 2 and primers therefor
First Claim
1. A method for 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 SEQ ID NO;
1 and said second primer hybridizes to a region of SEQ ID NO;
3;
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 is 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.
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Abstract
A method for specifically diagnosing spinocerebellar ataxia type 2 (SCA2) is disclosed. In the method of the present invention, PCR is carried out using a first primer which hybridizes with a part of the nucleotide sequence shown in SEQ ID NO:1, a second primer which hybridizes with a part of the nucleotide sequence shown in SEQ ID NO:3, and a test DNA as a template, and the number of CAG repeats is measured in the amplified PCR product. Since the numbers of CAG repeat in the genes of SCA2 patients are not less than 35 while those of normal individuals are 15 to 24, diagnosis of SCA2 can be carried out by the method of the present invention.
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Citations
8 Claims
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1. A method for diagnosing 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 SEQ ID NO;
1 and said second primer hybridizes to a region of SEQ ID NO;
3;
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 is 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. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8)
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Specification