Gene sequence for spinocerebellar ataxia type 1 and method for d

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

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435 912, 4351723, 435325, 4352523, 4353201, 536 235, 536 231, 536 2431, 536 2433, 935 4, 935 6, 935 8, 935 9, 935 78, C12Q 168, C12P 1934, C07H 2104

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058341838

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.

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