Gene sequence for spinocerebellar ataxia type 1 and method...

Details Gene sequence for spinocerebellar ataxia type 1 and method... Gene sequence for spinocerebellar ataxia type 1 and method...

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) C07H 21/00 (2006.01) C07K 14/435 (2006.01) C07K 14/47 (2006.01) C07K 16/18 (2006.01) C12Q 1/68 (2006.01) G01N 33/566 (2006.01) G01N 33/577 (2006.01) G01N 33/68 (2006.01)

Patent

CA 2166117

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, preferablyn = 19-36, for normal individuals. For an affected individual n > 36, preferably n >= 43.

L'invention concerne une molécule d'ADN isolée du gène de l'ataxie spino-cérébelleuse du type 1 dominante autosomique, situé à l'intérieur du bras court du chromosome 6. Cette molécule d'ADN isolée se trouve, de préférence, à l'intérieur d'un fragment d'EcoRI de 3,36 kb, c'est-à-dire un fragment d'EcoRI contenant environ 3360 paires de bases, du gène de SCA1. Les séquences isolées contiennent une région répétée de CAG. Le nombre de répétitions de trinucléotides de CAG (n) est </= 36, de préférence n = 19-36, pour des individus normaux. Et n > 36, de préférence n >/= 43, pour un individu atteint par la maladie.

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