LARGE SCALE GENOTYPING OF DISEASES AND A DIAGNOSTIC TEST FORSPINOCEREBELLAR ATAXIA TYPE 6

摘要

The present invention provides a method of screening individuals at risk for developing diseases caused by trinucleotide repeat sequence instability. Specifically, the present invention is drawn to screening individuals at risk for developing autosomal dominant spinocerebellar ataxia type 6 by determining the length of a CAG trinucleoti de repeat in the .alpha. 1A calcium channel gene of the individual. In addition, there is provided a method of identifying genes which are disea se- causing due to trinucleotide repeat sequence instability by large scale genotyping.