Gene sequence for spinocerebellar ataxia type 1 and method for diagnosis
US5834183A · kind A · utility
17Cited by
5References
10Claims
0Family size
Assignee
Inventors
Key dates
| Filing date | Jun 28, 1994 |
| Grant date | Nov 10, 1998 |
| Priority date | — |
| Expiry date | Jun 28, 2014 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG01N2800/2835
- WIPO fieldMeasurement
- WIPO sectorInstruments
Abstract
The present invention provides an isolated DNA molecule of the autosomal dominant spinocerebellar ataxia type 1 gene, which is located within the short arm of chromosome 6. This isolated DNA molecule 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 sequences contain a CAG repeat region. The number of CAG trinucleotide repeats (n) is .ltoreq.36, preferably n=19-36, for normal individuals. For an affected individual n>36, preferably n.gtoreq.43.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.