GENE SEQUENCE FOR SPINOCEREBELLAR ATAXIA TYPE 1 AND METHOD FOR DIAGNOSIS

摘要

The present invention provides an isolated DNA molecule of the autosomaldominant spinocerebellar ataxia type 1 gene, which islocated within the short arm of chromosome 6. This isolated DNA molecule ispreferably located within a 3.36 kb EcoRI fragment, i.e., anEcoRI fragment containing about 3360 base pairs, of the SCA1 gene. Theisolated sequences contain a CAG repeat region. The number ofCAG trinucleotide repeats (n) is = 36, preferablyn = 19-36, for normalindividuals. For an affected individual n 36, preferably n = 43.