DNA test for SCA-10
AssigneeBaylor College of Medicine
InventorsTetsuo Ashizawa, Tohru Matsuura
Life of this patent
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Abstract
Included is a method for detecting spinocerebellar ataxia type 10 (SCA10) by measuring the presence or absence of a DNA expansion in a gene locus associated with spinocerebellar ataxia type 10. The method employs extracting DNA from a sample to be tested, amplifying the extracted DNA; and identifying the presence or absence of a DNA expansion in the amplified extension products. Also included in the present invention are a kit for diagnosis of SCA10 and non-human transgenic eukaryotes that are not expressing or overexpressing SCA10.
Claims17
A method of detecting spinocerebellar ataxia type 10 in a sample containing DNA from an individual to be tested comprising the step of measuring the presence or absence of DNA expansion at a spinocerebellar ataxia type 10 gene locus.
A method of detecting pentanucleotide repeats in SCA10 comprising the steps of:
- isolating DNA from an individual to be tested;
- and
- performing PCR analysis using the primers of the sequence from the group consisting of SEQ ID NO:
- 3 and SEQ ID NO:
- 4, wherein said PCR analysis detects said pentanucleotide repeats.
A method of diagnosing spinocerebellar ataxia type 10 comprising the steps of:
- isolating DNA from an individual to be tested;
- performing PCR analysis using the primers of the sequence from the group consisting of SEQ ID NO:
- 3 and SEQ ID NO:
- 4;
- assessing the number of ATTCT repeats based on comparison to DNA from an unaffected individual;
- and
- determining whether the number of ATTCT repeats is expanded in comparison to that of unaffected individuals, wherein when said ATTCT repeats are expanded, said spinocerebellar ataxia type 10 is diagnosed.
A method of diagnosing spinocerebellar ataxia type 10 comprising the steps of:
- isolating DNA from an individual to be tested;
- performing PCR analysis using the primers of the sequence from the group consisting of SEQ ID NO:
- 10 and SEQ ID NO:
- 11;
- and
- assessing whether the number of ATTCT repeats is expanded in comparison to that of unaffected individuals, wherein when said ATTCT repeats are expanded said spinocerebellar ataxia type 10 is diagnosed.
Dependencies are inferred from the claim text.