| 摘要 |
<p>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 « 36, preferably n = 19-36, for normal individuals. For an affected individual n > 36, preferably n » 43.</p> |
