University of Minnesota

Ming-yi Chung

Huda Y Zoghbi

Harry T Orr

Laura P Ranum

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&gt;36, preferably n.gtoreq.43.

Gene sequence for spinocerebellar ataxia type 1 and method for diagnosis

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.ltoreq.36, preferably n=19-36, for normal individuals. For an affected individual n&gt;36, preferably n.gtoreq.43.

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Minneapolis, MN, United States of America

Ming-yi Chung