Gene sequence for spinocerebellar ataxia type 1 and method for diagnosis
First Claim
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1. A method for identifying individuals at risk for developing spinocerebellar ataxia type 1 comprising the step of:
- analyzing the CAG repeat region of a spinocerebellar ataxia type 1 gene wherein individuals at risk for developing spinocerebellar ataxia type 1 have greater than or equal to 43 CAG repeats.
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Abstract
The present invention provides an isolated DNA sequence of the short arm of chromosome 6 which is located within the autosomal dominant spinocerebellar ataxia type 1 gene. This isolated DNA sequence is preferably located within a 3.36 kb EcoRI fragment, i.e., an EcoRI fragment containing about 3360 base pairs, of the SCA1 gene. The isolated sequence preferably contains a CAG repeat region. The number of CAG trinucleotide repeats (n) is≦36, preferably n=19-36, for normal individuals. For an affected individual n>36, preferably n≧43.
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13 Claims
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1. A method for identifying individuals at risk for developing spinocerebellar ataxia type 1 comprising the step of:
analyzing the CAG repeat region of a spinocerebellar ataxia type 1 gene wherein individuals at risk for developing spinocerebellar ataxia type 1 have greater than or equal to 43 CAG repeats. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8)
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9. An isolated DNA fragment having a sequence comprising bases 1716-1749 of SEQ ID NO:
- 1 of a spinocerebellar ataxia type 1 gene and a CAG repeat region.
- View Dependent Claims (10, 11, 12)
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13. Isolated oligonucleotide primers selected from the group consisting of CCGGAGCCCTGCTGAGGT (SEQ ID NO:
- 8), CCAGACGCCGGGACAC (SEQ ID NO;
9), AACTGGAAATGTGGACGTAC (SEQ ID NO;
10), CAACATGGGCAGTCTGAG (SEQ ID NO;
11), CCACCACTCCATCCCAGC (SEQ ID NO;
12), TGCTGGGCTGGTGGGGGG (SEQ ID NO;
13), CTCTGGCTTTCTTGGTG (SEQ ID NO;
14), and GTACGTCCACATTTCCAGTT (SEQ ID NO;
15) useful for detecting spinocerebellar ataxia type 1.
- 8), CCAGACGCCGGGACAC (SEQ ID NO;
Specification